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3. Unilateral inguinofemoral lymphadenectomy in patients with early-stage vulvar squamous cell carcinoma and a unilateral metastatic sentinel lymph node is safe

Author

Kolk, W.L. van der, Zee, A.G.J. van der, Slomovitz, B.M., Baldwin, P.J.W., Doorn, H.C. van, Hullu, J.A. de, Velden, J. van der, Gaarenstroom, K.N., Slangen, B.F.M., Kjolhede, P., Brannstrom, M., Vergote, I., Holland, C.M., Coleman, R., Dorst, E.B.L. van, Driel, W.J. van, Nunns, D., Widschwendter, M., Nugent, D., DiSilvestro, P.A., Mannel, R.S., Tjiong, M.Y., Boll, D., Cibula, D., Covens, A., Provencher, D., Runnebaum, I.B., Monk, B.J., Zanagnolo, V., Tamussino, K., Oonk, M.H.M., Levenback, C.F., Hermans, R.H., Bouda, J., Sharma, A., Luesley, D., Ellis, P., Cruickshank, D.J., Duncan, T.J., Kieser, K., Palle, C., Spirtos, N.M., O'Malley, D.M., Leitao, M.M., Geller, M., Dhar, K., Asher, V., Tobias, D.H., Borgfeldt, C., Lea, J.S., Lood, M., Bailey, J., Eyjolfsdottir, B., Attard-Montalto, S., Tewari, K.S., Persson, P., Manchanda, R., Jensen, P., L. van le, GROINSS-V I II Participants, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), RS: GROW - R2 - Basic and Translational Cancer Biology, Obstetrics and gynaecology, Amsterdam Reproduction & Development (AR&D), Targeted Gynaecologic Oncology (TARGON), Cancer Center Amsterdam, Obstetrics and Gynaecology, CCA - Cancer Treatment and Quality of Life, and Gynecological Oncology

Subjects
Lymphadenopathy, CANCER-PATIENTS, Groin, Humans, Science & Technology, Vulvar Neoplasms, Vulvar cancer, Radiotherapy, Sentinel Lymph Node Biopsy, Kirurgi, Obstetrics and Gynecology, Obstetrics & Gynecology, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Oncology, Sentinel lymph node, Inguinofemoral lymphadenectomy, Lymph node metastases, Lymphatic Metastasis, Carcinoma, Squamous Cell, Lymph Node Excision, Surgery, Female, Lymph Nodes, Neoplasm Recurrence, Local, Life Sciences & Biomedicine
Abstract

Objective. Optimal management of the contralateral groin in patients with early-stage vulvar squamous cell carcinoma (VSCC) and a metastatic unilateral inguinal sentinel lymph node (SN) is unclear. We analyzed patients who participated in GROINSS-V I or II to determine whether treatment of the contralateral groin can safely be omitted in patients with a unilateral metastatic SN.Methods. We selected the patients with a unilateral metastatic SN from the GROINSS-V I and II databases. We determined the incidence of contralateral additional non-SN metastases in patients with unilateral SN-metastasis who underwent bilateral inguinofemoral lymphadenectomy (IFL). In those who underwent only ipsilateral groin treatment or no further treatment, we determined the incidence of contralateral groin recurrences during follow-up.Results. Of 1912 patients with early-stage VSCC, 366 had a unilateral metastatic SN. Subsequently, 244 had an IFL or no treatment of the contralateral groin. In seven patients (7/244; 2.9% [95% CI: 1.4%-5.8%]) disease was di-agnosed in the contralateral groin: five had contralateral non-SN metastasis at IFL and two developed an isolated contralateral groin recurrence after no further treatment. Five of them had a primary tumor >= 30 mm. Bilateral ra-diotherapy was administered in 122 patients, of whom one (1/122; 0.8% [95% CI: 0.1%-4.5%]) had a contralateral groin recurrence.Conclusion. The risk of contralateral lymph node metastases in patients with early-stage VSCC and a unilateral metastatic SN is low. It appears safe to limit groin treatment to unilateral IFL or inguinofemoral radiotherapy in these cases.(c) 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/4.0/). On behalf of all GROINSS-V I and II participants: C.F. Levenback, R.H. Hermans, J. Bouda, A. Sharma, D. Luesley, P. Ellis, D.J. Cruickshank, T.J. Duncan, K. Kieser,C. Palle, N.M. Spirtos, D.M. O'Malley, M.M. Leitao, M. Geller, K. Dhar, V. Asher, D.H. Tobias, C. Borgfeldt, J.S. Lea,M. Lood, J. Bailey, B. Eyjolfsdottir, S. Attard-Montalto, K.S. Tewari, P. Persson, R. Manchanda, P. Jensen, L. Van Le

Published
2022

4. Unilateral inguinofemoral lymphadenectomy in patients with early-stage vulvar squamous cell carcinoma and a unilateral metastatic sentinel lymph node is safe

Author

Van der Kolk, W.L., primary, Van der Zee, A.G.J., additional, Slomovitz, B.M., additional, Baldwin, P.J.W., additional, Van Doorn, H.C., additional, De Hullu, J.A., additional, Van der Velden, J., additional, Gaarenstroom, K.N., additional, Slangen, B.F.M., additional, Kjolhede, P., additional, Brännström, M., additional, Vergote, I., additional, Holland, C.M., additional, Coleman, R., additional, Van Dorst, E.B.L., additional, Van Driel, W.J., additional, Nunns, D., additional, Widschwendter, M., additional, Nugent, D., additional, DiSilvestro, P.A., additional, Mannel, R.S., additional, Tjiong, M.Y., additional, Boll, D., additional, Cibula, D., additional, Covens, A., additional, Provencher, D., additional, Runnebaum, I.B., additional, Monk, B.J., additional, Zanagnolo, V., additional, Tamussino, K., additional, Oonk, M.H.M., additional, Levenback, C.F., additional, Hermans, R.H., additional, Bouda, J., additional, Sharma, A., additional, Luesley, D., additional, Ellis, P., additional, Cruickshank, D.J., additional, Duncan, T.J., additional, Kieser, K., additional, Palle, C., additional, Spirtos, N.M., additional, O'Malley, D.M., additional, Leitao, M.M., additional, Geller, M., additional, Dhar, K., additional, Asher, V., additional, Tobias, D.H., additional, Borgfeldt, C., additional, Lea, J.S., additional, Lood, M., additional, Bailey, J., additional, Eyjolfsdottir, B., additional, Attard-Montalto, S., additional, Tewari, K.S., additional, Persson, P., additional, Manchanda, R., additional, Jensen, P., additional, and Van Le, L., additional

Published
2022
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6. Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers.

Author

Glubb D.M., Thompson D.J., Aben K.K.H., Alsulimani A., Amant F., Annibali D., Attia J., Barricarte A., Beckmann M.W., Berchuck A., Bermisheva M., Bernardini M.Q., Bischof K., Bjorge L., Bodelon C., Brand A.H., Brenton J.D., Brinton L.A., Bruinsma F., Buchanan D.D., Burghaus S., Butzow R., Cai H., Carney M.E., Chanock S.J., Chen C., Chen X.Q., Chen Z., Cook L.S., Cunningham J.M., De Vivo I., deFazio A., Doherty J.A., Dork T., du Bois A., Dunning A.M., Durst M., Edwards T., Edwards R.P., Ekici A.B., Ewing A., Fasching P.A., Ferguson S., Flanagan J.M., Fostira F., Fountzilas G., Friedenreich C.M., Gao B., Gaudet M.M., Gawelko J., Gentry-Maharaj A., Giles G.G., Glasspool R., Goodman M.T., Gronwald J., Harris H.R., Harter P., Hein A., Heitz F., Hildebrandt M.A.T., Hillemanns P., Hogdall E., Hogdall C.K., Holliday E.G., Huntsman D.G., Huzarski T., Jakubowska A., Jensen A., Jones M.E., Karlan B.Y., Karnezis A., Kelley J.L., Khusnutdinova E., Killeen J.L., Kjaer S.K., Klapdor R., Kobel M., Konopka B., Konstantopoulou I., Kopperud R.K., Koti M., Kraft P., Kupryjanczyk J., Lambrechts D., Larson M.C., Le Marchand L., Lele S., Lester J., Li A.J., Liang D., Liebrich C., Lipworth L., Lissowska J., Lu L., Lu K.H., Macciotta A., Mattiello A., May T., McAlpine J.N., McGuire V., McNeish I.A., Menon U., Modugno F., Moysich K.B., Nevanlinna H., Odunsi K., Olsson H., Orsulic S., Osorio A., Palli D., Park-Simon T.-W., Pearce C.L., Pejovic T., Permuth J.B., Podgorska A., Ramus S.J., Rebbeck T.R., Riggan M.J., Risch H.A., Rothstein J.H., Runnebaum I.B., Scott R.J., Sellers T.A., Senz J., Setiawan V.W., Siddiqui N., Sieh W., Spiewankiewicz B., Sutphen R., Swerdlow A.J., Szafron L.M., Teo S.H., Thompson P.J., Thomsen L.C.V., Titus L., Tone A., Tumino R., Turman C., Vanderstichele A., Edwards D.V., Vergote I., Vierkant R.A., Wang Z., Wang-Gohrke S., Webb P.M., White E., Whittemore A.S., Winham S.J., Wu X., Wu A.H., Yannoukakos D., Spurdle A.B., O'Mara T.A., Glubb D.M., Thompson D.J., Aben K.K.H., Alsulimani A., Amant F., Annibali D., Attia J., Barricarte A., Beckmann M.W., Berchuck A., Bermisheva M., Bernardini M.Q., Bischof K., Bjorge L., Bodelon C., Brand A.H., Brenton J.D., Brinton L.A., Bruinsma F., Buchanan D.D., Burghaus S., Butzow R., Cai H., Carney M.E., Chanock S.J., Chen C., Chen X.Q., Chen Z., Cook L.S., Cunningham J.M., De Vivo I., deFazio A., Doherty J.A., Dork T., du Bois A., Dunning A.M., Durst M., Edwards T., Edwards R.P., Ekici A.B., Ewing A., Fasching P.A., Ferguson S., Flanagan J.M., Fostira F., Fountzilas G., Friedenreich C.M., Gao B., Gaudet M.M., Gawelko J., Gentry-Maharaj A., Giles G.G., Glasspool R., Goodman M.T., Gronwald J., Harris H.R., Harter P., Hein A., Heitz F., Hildebrandt M.A.T., Hillemanns P., Hogdall E., Hogdall C.K., Holliday E.G., Huntsman D.G., Huzarski T., Jakubowska A., Jensen A., Jones M.E., Karlan B.Y., Karnezis A., Kelley J.L., Khusnutdinova E., Killeen J.L., Kjaer S.K., Klapdor R., Kobel M., Konopka B., Konstantopoulou I., Kopperud R.K., Koti M., Kraft P., Kupryjanczyk J., Lambrechts D., Larson M.C., Le Marchand L., Lele S., Lester J., Li A.J., Liang D., Liebrich C., Lipworth L., Lissowska J., Lu L., Lu K.H., Macciotta A., Mattiello A., May T., McAlpine J.N., McGuire V., McNeish I.A., Menon U., Modugno F., Moysich K.B., Nevanlinna H., Odunsi K., Olsson H., Orsulic S., Osorio A., Palli D., Park-Simon T.-W., Pearce C.L., Pejovic T., Permuth J.B., Podgorska A., Ramus S.J., Rebbeck T.R., Riggan M.J., Risch H.A., Rothstein J.H., Runnebaum I.B., Scott R.J., Sellers T.A., Senz J., Setiawan V.W., Siddiqui N., Sieh W., Spiewankiewicz B., Sutphen R., Swerdlow A.J., Szafron L.M., Teo S.H., Thompson P.J., Thomsen L.C.V., Titus L., Tone A., Tumino R., Turman C., Vanderstichele A., Edwards D.V., Vergote I., Vierkant R.A., Wang Z., Wang-Gohrke S., Webb P.M., White E., Whittemore A.S., Winham S.J., Wu X., Wu A.H., Yannoukakos D., Spurdle A.B., and O'Mara T.A.

Abstract

BACKGROUND: Accumulating evidence suggests a relationship between endometrial cancer and ovarian cancer. Independent genome-wide association studies (GWAS) for endometrial cancer and ovarian cancer have identified 16 and 27 risk regions, respectively, four of which overlap between the two cancers. We aimed to identify joint endometrial and ovarian cancer risk loci by performing a meta-analysis of GWAS summary statistics from these two cancers. METHOD(S): Using LDScore regression, we explored the genetic correlation between endometrial cancer and ovarian cancer. To identify loci associated with the risk of both cancers, we implemented a pipeline of statistical genetic analyses (i.e., inverse-variance meta-analysis, colocalization, and M-values) and performed analyses stratified by subtype. Candidate target genes were then prioritized using functional genomic data. RESULT(S): Genetic correlation analysis revealed significant genetic correlation between the two cancers (rG = 0.43, P = 2.66 x 10-5). We found seven loci associated with risk for both cancers (PBonferroni < 2.4 x 10-9). In addition, four novel subgenome-wide regions at 7p22.2, 7q22.1, 9p12, and 11q13.3 were identified (P < 5 x 10-7). Promoter-associated HiChIP chromatin loops from immortalized endometrium and ovarian cell lines and expression quantitative trait loci data highlighted candidate target genes for further investigation. CONCLUSION(S): Using cross-cancer GWAS meta-analysis, we have identified several joint endometrial and ovarian cancer risk loci and candidate target genes for future functional analysis. IMPACT: Our research highlights the shared genetic relationship between endometrial cancer and ovarian cancer. Further studies in larger sample sets are required to confirm our findings.Copyright ©2020 American Association for Cancer Research.

Published
2022

7. A randomized phase III adjuvant study in high-risk cervical cancer: simultaneous radiochemotherapy with cisplatin (S-RC) versus systemic paclitaxel and carboplatin followed by percutaneous radiation (PC-R): a NOGGO-AGO Intergroup Study

Author

Sehouli, J., Runnebaum, I.B., Fotopoulou, C., Blohmer, U., Belau, A., Leber, H., Hanker, L.C., Hartmann, W., Richter, R., Keyver-Paik, M.D., Oberhoff, C., Heinrich, G., du Bois, A., Olbrich, C., Simon, E., Friese, K., Kimmig, R., Boehmer, D., Lichtenegger, W., and Kuemmel, S.

Published
2012
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10. Radiotherapy Versus Inguinofemoral Lymphadenectomy as Treatment for Vulvar Cancer Patients With Micrometastases in the Sentinel Node: Results of GROINSS-V II

Author

Oonk, M.H., Slomovitz, B., Baldwin, P.J., Doorn, H.C. van, Velden, J. van der, Hullu, J.A. de, Gaarenstroom, K.N., Slangen, B.F.M., Vergote, I., Brännström, M., Dorst, E.B.L. van, Driel, W.J. van, Hermans, R.H., Nunns, D., Widschwendter, M., Nugent, D., Holland, C.M., Sharma, A., DiSilvestro, P.A., Mannel, R., Boll, D., Cibula, D., Covens, A., Provencher, D., Runnebaum, I.B., Luesley, D., Ellis, P., Duncan, T.J., Tjiong, M.Y., Cruickshank, D.J., Kjølhede, P., Levenback, C.F., Bouda, J., Kieser, K.E., Palle, C., Spirtos, N.M., O'Malley, D.M., Leitao, M.M., Geller, M.A., Dhar, K., Asher, V., Tamussino, K., Tobias, D.H., Borgfeldt, C., Lea, J.S., Bailey, J., Lood, M., Eyjolfsdottir, B., Attard-Montalto, S., Tewari, K.S., Manchanda, R., Jensen, P.T., Persson, P., Le, L, Putter, H., Bock, G.H. de, Monk, B.J., Creutzberg, C.L., Zee, A.G. van der, Oonk, M.H., Slomovitz, B., Baldwin, P.J., Doorn, H.C. van, Velden, J. van der, Hullu, J.A. de, Gaarenstroom, K.N., Slangen, B.F.M., Vergote, I., Brännström, M., Dorst, E.B.L. van, Driel, W.J. van, Hermans, R.H., Nunns, D., Widschwendter, M., Nugent, D., Holland, C.M., Sharma, A., DiSilvestro, P.A., Mannel, R., Boll, D., Cibula, D., Covens, A., Provencher, D., Runnebaum, I.B., Luesley, D., Ellis, P., Duncan, T.J., Tjiong, M.Y., Cruickshank, D.J., Kjølhede, P., Levenback, C.F., Bouda, J., Kieser, K.E., Palle, C., Spirtos, N.M., O'Malley, D.M., Leitao, M.M., Geller, M.A., Dhar, K., Asher, V., Tamussino, K., Tobias, D.H., Borgfeldt, C., Lea, J.S., Bailey, J., Lood, M., Eyjolfsdottir, B., Attard-Montalto, S., Tewari, K.S., Manchanda, R., Jensen, P.T., Persson, P., Le, L, Putter, H., Bock, G.H. de, Monk, B.J., Creutzberg, C.L., and Zee, A.G. van der

Abstract

Item does not contain fulltext, PURPOSE: The Groningen International Study on Sentinel nodes in Vulvar cancer (GROINSS-V)-II investigated whether inguinofemoral radiotherapy is a safe alternative to inguinofemoral lymphadenectomy (IFL) in vulvar cancer patients with a metastatic sentinel node (SN). METHODS: GROINSS-V-II was a prospective multicenter phase-II single-arm treatment trial, including patients with early-stage vulvar cancer (diameter < 4 cm) without signs of lymph node involvement at imaging, who had primary surgical treatment (local excision with SN biopsy). Where the SN was involved (metastasis of any size), inguinofemoral radiotherapy was given (50 Gy). The primary end point was isolated groin recurrence rate at 24 months. Stopping rules were defined for the occurrence of groin recurrences. RESULTS: From December 2005 until October 2016, 1,535 eligible patients were registered. The SN showed metastasis in 322 (21.0%) patients. In June 2010, with 91 SN-positive patients included, the stopping rule was activated because the isolated groin recurrence rate in this group went above our predefined threshold. Among 10 patients with an isolated groin recurrence, nine had SN metastases > 2 mm and/or extracapsular spread. The protocol was amended so that those with SN macrometastases (> 2 mm) underwent standard of care (IFL), whereas patients with SN micrometastases (≤ 2 mm) continued to receive inguinofemoral radiotherapy. Among 160 patients with SN micrometastases, 126 received inguinofemoral radiotherapy, with an ipsilateral isolated groin recurrence rate at 2 years of 1.6%. Among 162 patients with SN macrometastases, the isolated groin recurrence rate at 2 years was 22% in those who underwent radiotherapy, and 6.9% in those who underwent IFL (P = .011). Treatment-related morbidity after radiotherapy was less frequent compared with IFL. CONCLUSION: Inguinofemoral radiotherapy is a safe alternative for IFL in patients with SN micrometastases, with minimal morbidity. For patients with SN macr

Published
2021

17. rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

Author

Kelemen, L.E., Earp, M., Fridley, B.L., Chenevix-Trench, G., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Hein, A., Lambrechts, D., Lambrechts, S., Nieuwenhuysen, E. Van, Vergote, I., Rossing, M.A., Doherty, J.A., Chang-Claude, J., Behrens, S., Moysich, K.B., Cannioto, R., Lele, S., Odunsi, K., Goodman, M.T., Shvetsov, Y.B., Thompson, P.J., Wilkens, L.R., Dork, T., Antonenkova, N., Bogdanova, N., Hillemanns, P., Runnebaum, I.B., Bois, A. du, Harter, P., Heitz, F., Schwaab, I., Butzow, R., Pelttari, L.M., Nevanlinna, H., Modugno, F., Edwards, R.P., Kelley, J.L., Ness, R.B., Karlan, B.Y., Lester, J., Orsulic, S., Walsh, C., Kjaer, S.K., Jensen, A., Cunningham, J.M., Vierkant, R.A., Giles, G.G., Bruinsma, F., Southey, M.C., Hildebrandt, M.A., Liang, D., Lu, K., Wu, X., Sellers, T.A., Levine, D.A., Schildkraut, J.M., Iversen, E.S., Terry, K.L., Cramer, D.W, Tworoger, S.S., Poole, E.M., Bandera, E.V., Olson, S.H., Orlow, I., Thomsen, L.C., Bjorge, L., Krakstad, C., Tangen, I.L., Kiemeney, L.A.L.M., Aben, K.K.H., Massuger, L.F., Altena, A.M. van, Pejovic, T., Bean, Y., Kellar, M., Cook, L.S., Le, N.D., Brooks-Wilson, A., Gronwald, J., Cybulski, C., Jakubowska, A., Lubinski, J., Wentzensen, N., Brinton, L.A., Lissowska, J., Hogdall, E., Engelholm, S.A., Hogdall, C., Lundvall, L., Nedergaard, L., Pharoah, P.D., Dicks, E., Song, H., Tyrer, J.P., McNeish, I., Siddiqui, N., Carty, K., Goode, E.L., Berchuck, A., Kelemen, L.E., Earp, M., Fridley, B.L., Chenevix-Trench, G., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Hein, A., Lambrechts, D., Lambrechts, S., Nieuwenhuysen, E. Van, Vergote, I., Rossing, M.A., Doherty, J.A., Chang-Claude, J., Behrens, S., Moysich, K.B., Cannioto, R., Lele, S., Odunsi, K., Goodman, M.T., Shvetsov, Y.B., Thompson, P.J., Wilkens, L.R., Dork, T., Antonenkova, N., Bogdanova, N., Hillemanns, P., Runnebaum, I.B., Bois, A. du, Harter, P., Heitz, F., Schwaab, I., Butzow, R., Pelttari, L.M., Nevanlinna, H., Modugno, F., Edwards, R.P., Kelley, J.L., Ness, R.B., Karlan, B.Y., Lester, J., Orsulic, S., Walsh, C., Kjaer, S.K., Jensen, A., Cunningham, J.M., Vierkant, R.A., Giles, G.G., Bruinsma, F., Southey, M.C., Hildebrandt, M.A., Liang, D., Lu, K., Wu, X., Sellers, T.A., Levine, D.A., Schildkraut, J.M., Iversen, E.S., Terry, K.L., Cramer, D.W, Tworoger, S.S., Poole, E.M., Bandera, E.V., Olson, S.H., Orlow, I., Thomsen, L.C., Bjorge, L., Krakstad, C., Tangen, I.L., Kiemeney, L.A.L.M., Aben, K.K.H., Massuger, L.F., Altena, A.M. van, Pejovic, T., Bean, Y., Kellar, M., Cook, L.S., Le, N.D., Brooks-Wilson, A., Gronwald, J., Cybulski, C., Jakubowska, A., Lubinski, J., Wentzensen, N., Brinton, L.A., Lissowska, J., Hogdall, E., Engelholm, S.A., Hogdall, C., Lundvall, L., Nedergaard, L., Pharoah, P.D., Dicks, E., Song, H., Tyrer, J.P., McNeish, I., Siddiqui, N., Carty, K., Goode, E.L., and Berchuck, A.

Abstract

Contains fulltext : 195643.pdf (publisher's version ) (Open Access), Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported association between rs495139 in the TYMS-ENOSF1 3' gene region and increased risk of mucinous ovarian carcinoma (MOC) in an independent sample. Genotypes from 24,351 controls to 15,000 women with invasive OC, including 665 MOC, were available. We estimated per-allele odds ratios (OR) and 95% confidence intervals (CI) using unconditional logistic regression, and meta-analysis when combining these data with our previous report. The association between rs495139 and MOC was not significant in the independent sample (OR = 1.09; 95% CI = 0.97(-)1.22; p = 0.15; N = 665 cases). Meta-analysis suggested a weak association (OR = 1.13; 95% CI = 1.03(-)1.24; p = 0.01; N = 1019 cases). No significant association with risk of other OC histologic types was observed (p = 0.05 for tumor heterogeneity). In expression quantitative trait locus (eQTL) analysis, the rs495139 allele was positively associated with ENOSF1 mRNA expression in normal tissues of the gastrointestinal system, particularly esophageal mucosa (r = 0.51, p = 1.7 x 10(-28)), and nonsignificantly in five MOC tumors. The association results, along with inconclusive tumor eQTL findings, suggest that a true effect of rs495139 might be small.

Published
2018

18. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author

Phelan, C. (Catherine), Kuchenbaecker, K.B. (Karoline), Tyrer, J.P. (Jonathan P.), Kar, S.P. (Siddhartha P.), Lawrenson, K. (Kate), Winham, S.J. (Stacey J.), Dennis, J. (Joe), Pirie, A. (Ailith), Riggan, M.J. (Marjorie J.), Chornokur, G. (Ganna), Earp, M.A. (Madalene A.), Lyra, P.C. (Paulo C.), Lee, J.M. (Janet M.), Coetzee, S. (Simon), Beesley, J. (Jonathan), McGuffog, L. (Lesley), Soucy, P. (Penny), Dicks, E. (Ed), Lee, A. (Andrew), Barrowdale, D. (Daniel), Lecarpentier, J. (Julie), Leslie, G. (Goska), Aalfs, C.M. (Cora), Aben, K.K.H. (Katja), Adams, M. (Marcia), Adlard, J.W. (Julian), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N. (Natalia), Aravantinos, G. (Gerasimos), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita), Azzollini, J., Balmana, J. (Judith), Banerjee, S. (Susana), Barjhoux, L. (Laure), Barkardottir, R.B. (Rosa B.), Bean, Y. (Yukie), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bermisheva, M. (Marina), Bernardini, M.Q. (Marcus Q.), Birrer, M.J. (Michael J.), Bjorge, L. (Line), Black, A., Blankstein, K. (Kenneth), Blok, M.J. (Marinus), Bodelon, C. (Clara), Bogdanova, N. (Natalia), Bojesen, A. (Anders), Bonanni, B. (Bernardo), Borg, Å. (Åke), Bradbury, A.R. (Angela R.), Brenton, J.D. (James D.), Brewer, C. (Carole), Brinton, L.A. (Louise), Broberg, P. (Per), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Buecher, B. (Bruno), Butzow, R. (Ralf), Buys, S.S. (Saundra), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Cannioto, R. (Rikki), Carney, M.E. (Michael), Cescon, T. (Terence), Chan, S. (Salina), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, X.Q. (Xiao Qing), Chiew, Y.-E. (Yoke-Eng), Chiquette, J. (Jocelyne), Chung, W. (Wendy), Claes, K. (Kathleen), Conner, T. (Thomas), Cook, L.S. (Linda S.), Cook, J. (Jackie), Cramer, D.W. (Daniel), Cunningham, J.M. (Julie), D'Aloisio, A.A. (Aimee A.), Daly, M.B. (Mary), Damiola, F. (Francesca), Damirovna, S.D. (Sakaeva Dina), Dansonka-Mieszkowska, A. (Agnieszka), Dao, F. (Fanny), Davidson, R. (Rosemarie), DeFazio, A. (Anna), Delnatte, C.D. (Capucine), Doheny, K.F. (Kimberly), Díez, O. (Orland), Ding, Y.C. (Yuan Chun), Doherty, J.A. (Jennifer), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Dossus, L. (Laure), Duran, M. (Mercedes), Dürst, M. (Matthias), Dworniczak, B. (Bernd), Eccles, D. (Diana), Edwards, T. (Todd), Eeles, R. (Rosalind), Eilber, U. (Ursula), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S. (Steve), Elvira, M. (Mingajeva), Eng, K.H. (Kevin H.), Engel, C. (Christoph), Evans, D.G. (Gareth), Fasching, P.A. (Peter), Ferguson, S. (Sarah), Ferrer, S.F., Flanagan, J.M. (James), Fogarty, Z.C. (Zachary C.), Fortner, R.T. (Renée T.), Fostira, F. (Florentia), Foulkes, W.D. (William D.), Fountzilas, G. (George), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Frost, D. (Debra), Ganz, P.A. (Patricia), Garber, J. (Judy), García, M.J. (María J.), Garcia-Barberan, V. (Vanesa), Gehrig, P.A. (Paola A.), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham G.), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Radice, P. (Paolo), Goranova, T. (Teodora), Gore, M. (Martin), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Gruber, S.B. (Stephen), Hahnen, E. (Eric), Haiman, C.A. (Christopher), Håkansson, N. (Niclas), Hamann, U. (Ute), Hansen, T.V.O. (Thomas V.O.), Harrington, P.A. (Patricia A.), Harris, H.R. (Holly), Hauke, J. (Jan), Hein, A. (Alexander), Henderson, A. (Alex), Hildebrandt, M.A.T. (Michelle A.T.), Hillemanns, P. (Peter), Hodgson, S. (Shirley), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans B. L.), Holland, H. (Helene), Hooning, M.J. (Maartje J.), Hosking, K. (Karen), Huang, R.-Y. (Ruea-Yea), Hulick, P.J. (Peter), Hung, J. (Jillian), Hunter, D.J. (David J.), Huntsman, D.G. (David G.), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Iversen, E. (Erik), Izatt, L. (Louise), Izquierdo, A. (A.), Jakubowska, A. (Anna), James, P. (Paul), Janavicius, R. (Ramunas), Jernetz, M. (Mats), Jensen, A. (Allan), Jensen, U.B., John, E.M. (Esther), Johnatty, S.E. (Sharon), Jones, M.E. (Michael E.), Kannisto, P. (Päivi), Karlan, B.Y. (Beth), Karnezis, A. (Anthony), Kast, K. (Karin), Kennedy, C.J. (Catherine J.), Khusnutdinova, E.K. (Elza), Kiemeney, L.A.L.M. (Bart), Kiiski, J.I. (Johanna I.), Kim, S.-W. (Sung-Won), Kjaer, M. (Michael), Köbel, M. (Martin), Kopperud, R.K. (Reidun K.), Kruse, T.A. (Torben), Kupryjanczyk, J. (Jolanta), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Larrañaga, N. (Nerea), Larson, M.C. (Melissa), Lazaro, C. (Conxi), Le, N.D. (Nhu D.), Le Marchand, L. (Loic), Lee, J.W. (Jong Won), Lele, S.B. (Shashikant B.), Leminen, A. (Arto), Leroux, D. (Dominique), Lester, J. (Jenny), Lesueur, F. (Fabienne), Levine, D.A. (Douglas), Liang, D. (Dong), Liebrich, C. (Clemens), Lilyquist, J. (Jenna), Lipworth, L. (Loren), Lissowska, J. (Jolanta), Lu, K.H. (Karen), Lubinski, J. (Jan), Luccarini, C. (Craig), Lundvall, L. (Lene), Mai, P.L. (Phuong), Mendoza-Fandiño, G. (Gustavo), Manoukian, S. (Siranoush), Massuger, L.F. (Leon), May, T. (Taymaa), Mazoyer, S. (Sylvie), McAlpine, J.N. (Jessica N.), McGuire, V. (Valerie), McLaughlin, J. (John), McNeish, I. (Iain), Meijers-Heijboer, E.J. (Hanne), Meindl, A. (Alfons), Menon, U. (Usha), Mensenkamp, A.R. (Arjen R.), Merritt, M.A. (Melissa A.), Milne, R.L. (Roger), Mitchell, G. (Gillian), Modugno, F. (Francesmary), Moes-Sosnowska, J. (Joanna), Moffitt, M. (Melissa), Montagna, M. (Marco), Moysich, K.B. (Kirsten), Mulligan, A.M. (Anna Marie), Musinsky, J. (Jacob), Nathanson, K.L. (Katherine), Nedergaard, L. (Lotte), Ness, R.B. (Roberta), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Niederacher, D. (Dieter), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Olah, E. (Edith), Olopade, O.I. (Olofunmilayo), Olsson, H. (Håkan), Olswold, C. (Curtis), O'Malley, D.M. (David M.), Ong, K.-R. (Kai-Ren), Onland-Moret, N.C. (Charlotte), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Palli, D. (Domenico), Papi, L. (Laura), Park-Simon, T.-W., Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Søkilde), Peeters, P.H.M., Peissel, B. (Bernard), Peixoto, A. (Ana), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa M.), Permuth, J.B. (Jennifer B.), Peterlongo, P. (Paolo), Pezzani, L. (Lidia), Pfeiler, G. (Georg), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm), Piskorz, A.M. (Anna M.), Poblete, S.R. (Samantha R.), Pócza, T. (Tímea), Poole, E.M. (Elizabeth M.), Poppe, B. (Bruce), Porteous, M.E. (Mary), Prieur, F. (Fabienne), Prokofyeva, D. (Darya), Pugh, E. (Elizabeth), Pujana, M.A. (Miquel Angel), Pujol, P. (Pascal), Rantala, J. (Johanna), Rappaport-Fuerhauser, C. (Christine), Rennert, G. (Gad), Rhiem, K. (Kerstin), Rice, P. (Patricia), Richardson, A.L. (Andrea), Robson, M. (Mark), Rodriguez, G.C. (Gustavo), Rodríguez-Antona, C. (Cristina), Romm, J. (Jane), Rookus, M.A. (Matti), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salvesen, H.B. (Helga), Sandler, D.P. (Dale P.), Schoemaker, M.J. (Minouk J.), Senter, L. (Leigha), Setiawan, V.W. (V. Wendy), Severi, G. (Gianluca), Sharma, P. (Priyanka), Shelford, T. (Tameka), Siddiqui, N. (Nadeem), Side, L. (Lucy), Sieh, W. (Weiva), Singer, C.F. (Christian), Sobol, H. (Hagay), Song, H. (Honglin), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Stadler, Z. (Zsofia), Steinemann, D. (Doris), Stoppa-Lyonnet, D. (Dominique), Sucheston-Campbell, L.E. (Lara E.), Sukiennicki, G. (Grzegorz), Sutphen, R. (Rebecca), Sutter, C. (Christian), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Szafron, L. (Lukasz), Tan, Y.Y. (Yen Y.), Taylor, J.A. (Jack A.), Tea, M.-K., Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, K.L. (Kathryn L.), Thompson, P.J. (Pamela J.), Thomsen, L.C.V. (Liv Cecilie Vestrheim), Thull, D.L. (Darcy L.), Tihomirova, L. (Laima), Tinker, A.V. (Anna V.), Tischkowitz, M. (Marc), Tognazzo, S. (Silvia), Toland, A.E. (Amanda Ewart), Tone, A. (Alicia), Trabert, B. (Britton), Travis, S.P.L. (Simon), Trichopoulou, A. (Antonia), Tung, N. (Nadine), Tworoger, S. (Shelley), Van Altena, A.M. (Anne M.), Van Den Berg, D. (David), Van Der Hout, A.H. (Annemarie H.), Luijt, R.B. (Rob) van der, Van Heetvelde, M. (Mattias), Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vanderstichele, A. (Adriaan), Varon-Mateeva, R. (Raymonda), Vega, A. (Ana), Edwards, D.V. (Digna Velez), Vergote, I., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vratimos, A. (Athanassios), Walker, L.J. (Lisa), Walsh, C. (Christine), Wand, D. (Dorothea), Wang-Gohrke, S. (Shan), Wappenschmidt, B. (Barbara), Webb, P.M. (Penelope M.), Weinberg, C.R. (Clarice R.), Weitzel, J.N. (Jeffrey), Wentzensen, N. (N.), Whittemore, A.S. (Alice), Wijnen, J.T. (Juul), Wilkens, L.R. (Lynne), Wolk, K. (Kerstin), Woo, M. (Michelle), Wu, X. (Xifeng), Wu, A.H. (Anna), Yang, H.P. (Hannah), Yannoukakos, D. (Drakoulis), Ziogas, A. (Argyrios), Zorn, K.K. (Kristin K.), Narod, S.A. (Steven A.), Easton, D.F. (Douglas), Amos, W., Schildkraut, J.M. (Joellen), Ramus, S.J. (Susan), Ottini, L. (Laura), Goodman, M.T. (Marc), Park, S.K. (Sue K.), Kelemen, L.E. (Linda), Risch, H. (Harvey), Thomassen, M. (Mads), Offit, K. (Kenneth), Simard, J. (Jacques), Schmutzler, R.K. (Rita), Hazelett, D. (Dennis), Monteiro, A.N.A. (Alvaro N.), Couch, F.J. (Fergus), Berchuck, A. (Andrew), Chenevix-Trench, G. (Georgia), Goode, E.L. (Ellen), Sellers, T.F., Gayther, S.A. (Simon), Antoniou, A.C. (Antonis), Pharoah, P.D.P. (Paul), Phelan, C. (Catherine), Kuchenbaecker, K.B. (Karoline), Tyrer, J.P. (Jonathan P.), Kar, S.P. (Siddhartha P.), Lawrenson, K. (Kate), Winham, S.J. (Stacey J.), Dennis, J. (Joe), Pirie, A. (Ailith), Riggan, M.J. (Marjorie J.), Chornokur, G. (Ganna), Earp, M.A. (Madalene A.), Lyra, P.C. (Paulo C.), Lee, J.M. (Janet M.), Coetzee, S. (Simon), Beesley, J. (Jonathan), McGuffog, L. (Lesley), Soucy, P. (Penny), Dicks, E. (Ed), Lee, A. (Andrew), Barrowdale, D. (Daniel), Lecarpentier, J. (Julie), Leslie, G. (Goska), Aalfs, C.M. (Cora), Aben, K.K.H. (Katja), Adams, M. (Marcia), Adlard, J.W. (Julian), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N. (Natalia), Aravantinos, G. (Gerasimos), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita), Azzollini, J., Balmana, J. (Judith), Banerjee, S. (Susana), Barjhoux, L. (Laure), Barkardottir, R.B. (Rosa B.), Bean, Y. (Yukie), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bermisheva, M. (Marina), Bernardini, M.Q. (Marcus Q.), Birrer, M.J. (Michael J.), Bjorge, L. (Line), Black, A., Blankstein, K. (Kenneth), Blok, M.J. (Marinus), Bodelon, C. (Clara), Bogdanova, N. (Natalia), Bojesen, A. (Anders), Bonanni, B. (Bernardo), Borg, Å. (Åke), Bradbury, A.R. (Angela R.), Brenton, J.D. (James D.), Brewer, C. (Carole), Brinton, L.A. (Louise), Broberg, P. (Per), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Buecher, B. (Bruno), Butzow, R. (Ralf), Buys, S.S. (Saundra), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Cannioto, R. (Rikki), Carney, M.E. (Michael), Cescon, T. (Terence), Chan, S. (Salina), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, X.Q. (Xiao Qing), Chiew, Y.-E. (Yoke-Eng), Chiquette, J. (Jocelyne), Chung, W. (Wendy), Claes, K. (Kathleen), Conner, T. (Thomas), Cook, L.S. (Linda S.), Cook, J. (Jackie), Cramer, D.W. (Daniel), Cunningham, J.M. (Julie), D'Aloisio, A.A. (Aimee A.), Daly, M.B. (Mary), Damiola, F. (Francesca), Damirovna, S.D. (Sakaeva Dina), Dansonka-Mieszkowska, A. (Agnieszka), Dao, F. (Fanny), Davidson, R. (Rosemarie), DeFazio, A. (Anna), Delnatte, C.D. (Capucine), Doheny, K.F. (Kimberly), Díez, O. (Orland), Ding, Y.C. (Yuan Chun), Doherty, J.A. (Jennifer), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Dossus, L. (Laure), Duran, M. (Mercedes), Dürst, M. (Matthias), Dworniczak, B. (Bernd), Eccles, D. (Diana), Edwards, T. (Todd), Eeles, R. (Rosalind), Eilber, U. (Ursula), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S. (Steve), Elvira, M. (Mingajeva), Eng, K.H. (Kevin H.), Engel, C. (Christoph), Evans, D.G. (Gareth), Fasching, P.A. (Peter), Ferguson, S. (Sarah), Ferrer, S.F., Flanagan, J.M. (James), Fogarty, Z.C. (Zachary C.), Fortner, R.T. (Renée T.), Fostira, F. (Florentia), Foulkes, W.D. (William D.), Fountzilas, G. (George), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Frost, D. (Debra), Ganz, P.A. (Patricia), Garber, J. (Judy), García, M.J. (María J.), Garcia-Barberan, V. (Vanesa), Gehrig, P.A. (Paola A.), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham G.), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Radice, P. (Paolo), Goranova, T. (Teodora), Gore, M. (Martin), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Gruber, S.B. (Stephen), Hahnen, E. (Eric), Haiman, C.A. (Christopher), Håkansson, N. (Niclas), Hamann, U. (Ute), Hansen, T.V.O. (Thomas V.O.), Harrington, P.A. (Patricia A.), Harris, H.R. (Holly), Hauke, J. (Jan), Hein, A. (Alexander), Henderson, A. (Alex), Hildebrandt, M.A.T. (Michelle A.T.), Hillemanns, P. (Peter), Hodgson, S. (Shirley), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans B. L.), Holland, H. (Helene), Hooning, M.J. (Maartje J.), Hosking, K. (Karen), Huang, R.-Y. (Ruea-Yea), Hulick, P.J. (Peter), Hung, J. (Jillian), Hunter, D.J. (David J.), Huntsman, D.G. (David G.), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Iversen, E. (Erik), Izatt, L. (Louise), Izquierdo, A. (A.), Jakubowska, A. (Anna), James, P. (Paul), Janavicius, R. (Ramunas), Jernetz, M. (Mats), Jensen, A. (Allan), Jensen, U.B., John, E.M. (Esther), Johnatty, S.E. (Sharon), Jones, M.E. (Michael E.), Kannisto, P. (Päivi), Karlan, B.Y. (Beth), Karnezis, A. (Anthony), Kast, K. (Karin), Kennedy, C.J. (Catherine J.), Khusnutdinova, E.K. (Elza), Kiemeney, L.A.L.M. (Bart), Kiiski, J.I. (Johanna I.), Kim, S.-W. (Sung-Won), Kjaer, M. (Michael), Köbel, M. (Martin), Kopperud, R.K. (Reidun K.), Kruse, T.A. (Torben), Kupryjanczyk, J. (Jolanta), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Larrañaga, N. (Nerea), Larson, M.C. (Melissa), Lazaro, C. (Conxi), Le, N.D. (Nhu D.), Le Marchand, L. (Loic), Lee, J.W. (Jong Won), Lele, S.B. (Shashikant B.), Leminen, A. (Arto), Leroux, D. (Dominique), Lester, J. (Jenny), Lesueur, F. (Fabienne), Levine, D.A. (Douglas), Liang, D. (Dong), Liebrich, C. (Clemens), Lilyquist, J. (Jenna), Lipworth, L. (Loren), Lissowska, J. (Jolanta), Lu, K.H. (Karen), Lubinski, J. (Jan), Luccarini, C. (Craig), Lundvall, L. (Lene), Mai, P.L. (Phuong), Mendoza-Fandiño, G. (Gustavo), Manoukian, S. (Siranoush), Massuger, L.F. (Leon), May, T. (Taymaa), Mazoyer, S. (Sylvie), McAlpine, J.N. (Jessica N.), McGuire, V. (Valerie), McLaughlin, J. (John), McNeish, I. (Iain), Meijers-Heijboer, E.J. (Hanne), Meindl, A. (Alfons), Menon, U. (Usha), Mensenkamp, A.R. (Arjen R.), Merritt, M.A. (Melissa A.), Milne, R.L. (Roger), Mitchell, G. (Gillian), Modugno, F. (Francesmary), Moes-Sosnowska, J. (Joanna), Moffitt, M. (Melissa), Montagna, M. (Marco), Moysich, K.B. (Kirsten), Mulligan, A.M. (Anna Marie), Musinsky, J. (Jacob), Nathanson, K.L. (Katherine), Nedergaard, L. (Lotte), Ness, R.B. (Roberta), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Niederacher, D. (Dieter), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Olah, E. (Edith), Olopade, O.I. (Olofunmilayo), Olsson, H. (Håkan), Olswold, C. (Curtis), O'Malley, D.M. (David M.), Ong, K.-R. (Kai-Ren), Onland-Moret, N.C. (Charlotte), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Palli, D. (Domenico), Papi, L. (Laura), Park-Simon, T.-W., Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Søkilde), Peeters, P.H.M., Peissel, B. (Bernard), Peixoto, A. (Ana), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa M.), Permuth, J.B. (Jennifer B.), Peterlongo, P. (Paolo), Pezzani, L. (Lidia), Pfeiler, G. (Georg), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm), Piskorz, A.M. (Anna M.), Poblete, S.R. (Samantha R.), Pócza, T. (Tímea), Poole, E.M. (Elizabeth M.), Poppe, B. (Bruce), Porteous, M.E. (Mary), Prieur, F. (Fabienne), Prokofyeva, D. (Darya), Pugh, E. (Elizabeth), Pujana, M.A. (Miquel Angel), Pujol, P. (Pascal), Rantala, J. (Johanna), Rappaport-Fuerhauser, C. (Christine), Rennert, G. (Gad), Rhiem, K. (Kerstin), Rice, P. (Patricia), Richardson, A.L. (Andrea), Robson, M. (Mark), Rodriguez, G.C. (Gustavo), Rodríguez-Antona, C. (Cristina), Romm, J. (Jane), Rookus, M.A. (Matti), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salvesen, H.B. (Helga), Sandler, D.P. (Dale P.), Schoemaker, M.J. (Minouk J.), Senter, L. (Leigha), Setiawan, V.W. (V. Wendy), Severi, G. (Gianluca), Sharma, P. (Priyanka), Shelford, T. (Tameka), Siddiqui, N. (Nadeem), Side, L. (Lucy), Sieh, W. (Weiva), Singer, C.F. (Christian), Sobol, H. (Hagay), Song, H. (Honglin), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Stadler, Z. (Zsofia), Steinemann, D. (Doris), Stoppa-Lyonnet, D. (Dominique), Sucheston-Campbell, L.E. (Lara E.), Sukiennicki, G. (Grzegorz), Sutphen, R. (Rebecca), Sutter, C. (Christian), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Szafron, L. (Lukasz), Tan, Y.Y. (Yen Y.), Taylor, J.A. (Jack A.), Tea, M.-K., Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, K.L. (Kathryn L.), Thompson, P.J. (Pamela J.), Thomsen, L.C.V. (Liv Cecilie Vestrheim), Thull, D.L. (Darcy L.), Tihomirova, L. (Laima), Tinker, A.V. (Anna V.), Tischkowitz, M. (Marc), Tognazzo, S. (Silvia), Toland, A.E. (Amanda Ewart), Tone, A. (Alicia), Trabert, B. (Britton), Travis, S.P.L. (Simon), Trichopoulou, A. (Antonia), Tung, N. (Nadine), Tworoger, S. (Shelley), Van Altena, A.M. (Anne M.), Van Den Berg, D. (David), Van Der Hout, A.H. (Annemarie H.), Luijt, R.B. (Rob) van der, Van Heetvelde, M. (Mattias), Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vanderstichele, A. (Adriaan), Varon-Mateeva, R. (Raymonda), Vega, A. (Ana), Edwards, D.V. (Digna Velez), Vergote, I., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vratimos, A. (Athanassios), Walker, L.J. (Lisa), Walsh, C. (Christine), Wand, D. (Dorothea), Wang-Gohrke, S. (Shan), Wappenschmidt, B. (Barbara), Webb, P.M. (Penelope M.), Weinberg, C.R. (Clarice R.), Weitzel, J.N. (Jeffrey), Wentzensen, N. (N.), Whittemore, A.S. (Alice), Wijnen, J.T. (Juul), Wilkens, L.R. (Lynne), Wolk, K. (Kerstin), Woo, M. (Michelle), Wu, X. (Xifeng), Wu, A.H. (Anna), Yang, H.P. (Hannah), Yannoukakos, D. (Drakoulis), Ziogas, A. (Argyrios), Zorn, K.K. (Kristin K.), Narod, S.A. (Steven A.), Easton, D.F. (Douglas), Amos, W., Schildkraut, J.M. (Joellen), Ramus, S.J. (Susan), Ottini, L. (Laura), Goodman, M.T. (Marc), Park, S.K. (Sue K.), Kelemen, L.E. (Linda), Risch, H. (Harvey), Thomassen, M. (Mads), Offit, K. (Kenneth), Simard, J. (Jacques), Schmutzler, R.K. (Rita), Hazelett, D. (Dennis), Monteiro, A.N.A. (Alvaro N.), Couch, F.J. (Fergus), Berchuck, A. (Andrew), Chenevix-Trench, G. (Georgia), Goode, E.L. (Ellen), Sellers, T.F., Gayther, S.A. (Simon), Antoniou, A.C. (Antonis), and Pharoah, P.D.P. (Paul)

Abstract

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.

Published
2017
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20. Sentinel nodes in vulvar cancer: Long-term follow-up of the GROningen INternational Study on Sentinel nodes in Vulvar cancer (GROINSS-V) I

Author

Grootenhuis, N.C. te, Zee, A.G. van der, Doorn, H.C. van, Velden, J. Van der, Vergote, I., Zanagnolo, V., Baldwin, P.J., Gaarenstroom, K.N., Dorst, E.B. van, Trum, J.W., Slangen, B.F., Runnebaum, I.B., Tamussino, K., Hermans, R.H., Provencher, D.M., Bock, G.H. de, Hullu, J.A. de, Oonk, M.H., Grootenhuis, N.C. te, Zee, A.G. van der, Doorn, H.C. van, Velden, J. Van der, Vergote, I., Zanagnolo, V., Baldwin, P.J., Gaarenstroom, K.N., Dorst, E.B. van, Trum, J.W., Slangen, B.F., Runnebaum, I.B., Tamussino, K., Hermans, R.H., Provencher, D.M., Bock, G.H. de, Hullu, J.A. de, and Oonk, M.H.

Abstract

Item does not contain fulltext

Published
2016

21. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

Author

Cuellar-Partida, G., Lu, Y., Dixon, S.C., Fasching, P.A., Hein, A., Burghaus, S., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Vanderstichele, A., Doherty, J.A., Rossing, M.A., Chang-Claude, J., Rudolph, A., Wang-Gohrke, S., Goodman, M.T., Bogdanova, N., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L.M., Edwards, R.P., Kelley, J.L., Modugno, F., Moysich, K.B., Ness, R.B., Cannioto, R., Hogdall, E., Hogdall, C., Jensen, A., Giles, G.G., Bruinsma, F., Kjaer, S.K., Hildebrandt, M.A.T., Liang, D., Lu, K.H., Wu, X., Bisogna, M., Dao, F., Levine, D.A., Cramer, D.W, Terry, K.L., Tworoger, S.S., Stampfer, M., Missmer, S., Bjorge, L., Salvesen, H.B., Kopperud, R.K., Bischof, K., Aben, K.K.H., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Brooks-Wilson, A., Olson, S.H., McGuire, V., Rothstein, J.H., Sieh, W., Whittemore, A.S., Cook, L.S., Le, N.D., Gilks, C. Blake, Gronwald, J., Jakubowska, A., Lubinski, J., Kluz, T., Song, H., Tyrer, J.P., Wentzensen, N., Brinton, L., Trabert, B., Lissowska, J., McLaughlin, J.R., Narod, S.A., Phelan, C., Anton-Culver, H., Ziogas, A., Eccles, D., Campbell, I., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Wu, A.H., Dansonka-Mieszkowska, A., Kupryjanczyk, J., Timorek, A., Szafron, L., Cunningham, J.M., Fridley, B.L., Winham, S.J., Bandera, E.V., Poole, E.M., Morgan, T.K., Goode, E.L., Cuellar-Partida, G., Lu, Y., Dixon, S.C., Fasching, P.A., Hein, A., Burghaus, S., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Vanderstichele, A., Doherty, J.A., Rossing, M.A., Chang-Claude, J., Rudolph, A., Wang-Gohrke, S., Goodman, M.T., Bogdanova, N., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L.M., Edwards, R.P., Kelley, J.L., Modugno, F., Moysich, K.B., Ness, R.B., Cannioto, R., Hogdall, E., Hogdall, C., Jensen, A., Giles, G.G., Bruinsma, F., Kjaer, S.K., Hildebrandt, M.A.T., Liang, D., Lu, K.H., Wu, X., Bisogna, M., Dao, F., Levine, D.A., Cramer, D.W, Terry, K.L., Tworoger, S.S., Stampfer, M., Missmer, S., Bjorge, L., Salvesen, H.B., Kopperud, R.K., Bischof, K., Aben, K.K.H., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Brooks-Wilson, A., Olson, S.H., McGuire, V., Rothstein, J.H., Sieh, W., Whittemore, A.S., Cook, L.S., Le, N.D., Gilks, C. Blake, Gronwald, J., Jakubowska, A., Lubinski, J., Kluz, T., Song, H., Tyrer, J.P., Wentzensen, N., Brinton, L., Trabert, B., Lissowska, J., McLaughlin, J.R., Narod, S.A., Phelan, C., Anton-Culver, H., Ziogas, A., Eccles, D., Campbell, I., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Wu, A.H., Dansonka-Mieszkowska, A., Kupryjanczyk, J., Timorek, A., Szafron, L., Cunningham, J.M., Fridley, B.L., Winham, S.J., Bandera, E.V., Poole, E.M., Morgan, T.K., and Goode, E.L.

Abstract

Contains fulltext : 171782.pdf (publisher's version ) (Closed access), Epithelial ovarian cancer (EOC) is one of the deadliest common cancers. The five most common types of disease are high-grade and low-grade serous, endometrioid, mucinous and clear cell carcinoma. Each of these subtypes present distinct molecular pathogeneses and sensitivities to treatments. Recent studies show that certain genetic variants confer susceptibility to all subtypes while other variants are subtype-specific. Here, we perform an extensive analysis of the genetic architecture of EOC subtypes. To this end, we used data of 10,014 invasive EOC patients and 21,233 controls from the Ovarian Cancer Association Consortium genotyped in the iCOGS array (211,155 SNPs). We estimate the array heritability (attributable to variants tagged on arrays) of each subtype and their genetic correlations. We also look for genetic overlaps with factors such as obesity, smoking behaviors, diabetes, age at menarche and height. We estimated the array heritabilities of high-grade serous disease ([Formula: see text] = 8.8 +/- 1.1 %), endometrioid ([Formula: see text] = 3.2 +/- 1.6 %), clear cell ([Formula: see text] = 6.7 +/- 3.3 %) and all EOC ([Formula: see text] = 5.6 +/- 0.6 %). Known associated loci contributed approximately 40 % of the total array heritability for each subtype. The contribution of each chromosome to the total heritability was not proportional to chromosome size. Through bivariate and cross-trait LD score regression, we found evidence of shared genetic backgrounds between the three high-grade subtypes: serous, endometrioid and undifferentiated. Finally, we found significant genetic correlations of all EOC with diabetes and obesity using a polygenic prediction approach.

Published
2016

22. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author

Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, SWE-BRCA, Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. 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(Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. 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(Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, and SWE-BRCA

Abstract

Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and br

Published
2016
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23. Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study

Author

Ong, J.S., Cuellar-Partida, G., Lu, Y., Fasching, P.A., Hein, A., Burghaus, S., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Vanderstichele, A., Doherty, J., Rossing, M. Anne, Chang-Claude, J., Eilber, U., Rudolph, A., Wang-Gohrke, S., Goodman, M.T., Bogdanova, N., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L.M., Edwards, R.P., Kelley, J.L., Modugno, F., Moysich, K.B., Ness, R.B., Cannioto, R., Hogdall, E., Hogdall, C.K., Jensen, A., Giles, G.G., Bruinsma, F., Kjaer, S.K., Hildebrandt, M.A.T., Liang, D., Lu, K.H., Wu, X., Bisogna, M., Dao, F., Levine, D.A., Cramer, D.W, Terry, K.L., Tworoger, S.S., Stampfer, M., Missmer, S., Bjorge, L., Salvesen, H.B., Kopperud, R.K., Bischof, K., Aben, K.K.H., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Brooks-Wilson, A., Olson, S.H., McGuire, V., Rothstein, J.H., Sieh, W., Whittemore, A.S., Cook, L.S., Le, N.D., Gilks, C.B., Gronwald, J., Jakubowska, A., Lubinski, J., Kluz, T., Song, H., Tyrer, J.P., Wentzensen, N., Brinton, L., Trabert, B., Lissowska, J., McLaughlin, J.R., Narod, S.A., Phelan, C., Anton-Culver, H., Ziogas, A., Eccles, D., Campbell, I., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Wu, A.H., Dansonka-Mieszkowska, A., Kupryjanczyk, J., Timorek, A., Szafron, L., Cunningham, J.M., Fridley, B.L., Winham, S.J., Bandera, E.V., Poole, E.M., Morgan, T.K., Ong, J.S., Cuellar-Partida, G., Lu, Y., Fasching, P.A., Hein, A., Burghaus, S., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Vanderstichele, A., Doherty, J., Rossing, M. Anne, Chang-Claude, J., Eilber, U., Rudolph, A., Wang-Gohrke, S., Goodman, M.T., Bogdanova, N., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L.M., Edwards, R.P., Kelley, J.L., Modugno, F., Moysich, K.B., Ness, R.B., Cannioto, R., Hogdall, E., Hogdall, C.K., Jensen, A., Giles, G.G., Bruinsma, F., Kjaer, S.K., Hildebrandt, M.A.T., Liang, D., Lu, K.H., Wu, X., Bisogna, M., Dao, F., Levine, D.A., Cramer, D.W, Terry, K.L., Tworoger, S.S., Stampfer, M., Missmer, S., Bjorge, L., Salvesen, H.B., Kopperud, R.K., Bischof, K., Aben, K.K.H., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Brooks-Wilson, A., Olson, S.H., McGuire, V., Rothstein, J.H., Sieh, W., Whittemore, A.S., Cook, L.S., Le, N.D., Gilks, C.B., Gronwald, J., Jakubowska, A., Lubinski, J., Kluz, T., Song, H., Tyrer, J.P., Wentzensen, N., Brinton, L., Trabert, B., Lissowska, J., McLaughlin, J.R., Narod, S.A., Phelan, C., Anton-Culver, H., Ziogas, A., Eccles, D., Campbell, I., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Wu, A.H., Dansonka-Mieszkowska, A., Kupryjanczyk, J., Timorek, A., Szafron, L., Cunningham, J.M., Fridley, B.L., Winham, S.J., Bandera, E.V., Poole, E.M., and Morgan, T.K.

Abstract

Contains fulltext : 171904.pdf (publisher's version ) (Closed access), BACKGROUND: In vitro and observational epidemiological studies suggest that vitamin D may play a role in cancer prevention. However, the relationship between vitamin D and ovarian cancer is uncertain, with observational studies generating conflicting findings. A potential limitation of observational studies is inadequate control of confounding. To overcome this problem, we used Mendelian randomization (MR) to evaluate the association between single nucleotide polymorphisms (SNPs) associated with circulating 25-hydroxyvitamin D [25(OH)D] concentration and risk of ovarian cancer. METHODS: We employed SNPs with well-established associations with 25(OH)D concentration as instrumental variables for MR: rs7944926 (DHCR7), rs12794714 (CYP2R1) and rs2282679 (GC). We included 31 719 women of European ancestry (10 065 cases, 21 654 controls) from the Ovarian Cancer Association Consortium, who were genotyped using customized Illumina Infinium iSelect (iCOGS) arrays. A two-sample (summary data) MR approach was used and analyses were performed separately for all ovarian cancer (10 065 cases) and for high-grade serous ovarian cancer (4121 cases). RESULTS: The odds ratio for epithelial ovarian cancer risk (10 065 cases) estimated by combining the individual SNP associations using inverse variance weighting was 1.27 (95% confidence interval: 1.06 to 1.51) per 20 nmol/L decrease in 25(OH)D concentration. The estimated odds ratio for high-grade serous epithelial ovarian cancer (4121 cases) was 1.54 (1.19, 2.01). CONCLUSIONS: Genetically lowered 25-hydroxyvitamin D concentrations were associated with higher ovarian cancer susceptibility in Europeans. These findings suggest that increasing plasma vitamin D levels may reduce risk of ovarian cancer.

Published
2016

24. Evaluating the ovarian cancer gonadotropin hypothesis: A candidate gene study

Author

Lee, A.W., Tyrer, J.P., Doherty, J.A., Stram, D.A., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Plisiecka-Halasa, J., Spiewankiewicz, B., Myers, E.J., Study, G., Chenevix-Trench, G., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Hein, A., Vergote, I., Nieuwenhuysen, E. Van, Lambrechts, D., Wicklund, K.G., Eilber, U., Wang-Gohrke, S., Chang-Claude, J., Rudolph, A., Sucheston-Campbell, L., Odunsi, K., Moysich, K.B., Shvetsov, Y.B., Thompson, P.J., Goodman, M.T., Wilkens, L.R., Dork, T., Hillemanns, P., Durst, M., Runnebaum, I.B., Bogdanova, N., Pelttari, L.M., Nevanlinna, H., Leminen, A., Edwards, R.P., Kelley, J.L., Harter, P., Schwaab, I., Heitz, F., Bois, A. du, Orsulic, S., Lester, J., Walsh, C., Karlan, B.Y., Hogdall, E., Kjaer, S.K., Jensen, A., Vierkant, R.A., Cunningham, J.M., Goode, E.L., Fridley, B.L., Southey, M.C., Giles, G.G., Bruinsma, F., Wu, X., Hildebrandt, M.A.T., Lu, K., Liang, D., Bisogna, M., Levine, D.A., Weber, R.P., Schildkraut, J.M., Iversen, E.S., Berchuck, A., Terry, K.L., Cramer, D.W, Tworoger, S.S., Poole, E.M., Olson, S.H., Orlow, I., Bandera, E.V., Bjorge, L., Tangen, I.L., Salvesen, H.B., Krakstad, C., Massuger, L.F.A.G., Kiemeney, L.A.L.M., Aben, K.K.H., Altena, A.M. van, Bean, Y., Pejovic, T., Kellar, M., Le, N.D., Cook, L.S., Kelemen, L.E., Brooks-Wilson, A., Lubinski, J., Gronwald, J., Cybulski, C., Jakubowska, A., Wentzensen, N., Brinton, L.A., Lissowska, J., Yang, H., Nedergaard, L., et al., Lee, A.W., Tyrer, J.P., Doherty, J.A., Stram, D.A., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Plisiecka-Halasa, J., Spiewankiewicz, B., Myers, E.J., Study, G., Chenevix-Trench, G., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Hein, A., Vergote, I., Nieuwenhuysen, E. Van, Lambrechts, D., Wicklund, K.G., Eilber, U., Wang-Gohrke, S., Chang-Claude, J., Rudolph, A., Sucheston-Campbell, L., Odunsi, K., Moysich, K.B., Shvetsov, Y.B., Thompson, P.J., Goodman, M.T., Wilkens, L.R., Dork, T., Hillemanns, P., Durst, M., Runnebaum, I.B., Bogdanova, N., Pelttari, L.M., Nevanlinna, H., Leminen, A., Edwards, R.P., Kelley, J.L., Harter, P., Schwaab, I., Heitz, F., Bois, A. du, Orsulic, S., Lester, J., Walsh, C., Karlan, B.Y., Hogdall, E., Kjaer, S.K., Jensen, A., Vierkant, R.A., Cunningham, J.M., Goode, E.L., Fridley, B.L., Southey, M.C., Giles, G.G., Bruinsma, F., Wu, X., Hildebrandt, M.A.T., Lu, K., Liang, D., Bisogna, M., Levine, D.A., Weber, R.P., Schildkraut, J.M., Iversen, E.S., Berchuck, A., Terry, K.L., Cramer, D.W, Tworoger, S.S., Poole, E.M., Olson, S.H., Orlow, I., Bandera, E.V., Bjorge, L., Tangen, I.L., Salvesen, H.B., Krakstad, C., Massuger, L.F.A.G., Kiemeney, L.A.L.M., Aben, K.K.H., Altena, A.M. van, Bean, Y., Pejovic, T., Kellar, M., Le, N.D., Cook, L.S., Kelemen, L.E., Brooks-Wilson, A., Lubinski, J., Gronwald, J., Cybulski, C., Jakubowska, A., Wentzensen, N., Brinton, L.A., Lissowska, J., Yang, H., Nedergaard, L., and et al.

Abstract

Contains fulltext : 155211.pdf (publisher's version ) (Closed access), OBJECTIVE: Ovarian cancer is a hormone-related disease with a strong genetic basis. However, none of its high-penetrance susceptibility genes and GWAS-identified variants to date are known to be involved in hormonal pathways. Given the hypothesized etiologic role of gonadotropins, an assessment of how variability in genes involved in the gonadotropin signaling pathway impacts disease risk is warranted. METHODS: Genetic data from 41 ovarian cancer study sites were pooled and unconditional logistic regression was used to evaluate whether any of the 2185 SNPs from 11 gonadotropin signaling pathway genes was associated with ovarian cancer risk. A burden test using the admixture likelihood (AML) method was also used to evaluate gene-level associations. RESULTS: We did not find any genome-wide significant associations between individual SNPs and ovarian cancer risk. However, there was some suggestion of gene-level associations for four gonadotropin signaling pathway genes: INHBB (p=0.045, mucinous), LHCGR (p=0.046, high-grade serous), GNRH (p=0.041, high-grade serous), and FSHB (p=0.036, overall invasive). There was also suggestive evidence for INHA (p=0.060, overall invasive). CONCLUSIONS: Ovarian cancer studies have limited sample numbers, thus fewer genome-wide susceptibility alleles, with only modest associations, have been identified relative to breast and prostate cancers. We have evaluated the majority of ovarian cancer studies with biological samples, to our knowledge, leaving no opportunity for replication. Using both our understanding of biology and powerful gene-level tests, we have identified four putative ovarian cancer loci near INHBB, LHCGR, GNRH, and FSHB that warrant a second look if larger sample sizes and denser genotype chips become available.

Published
2015

25. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

Author

Lu, Y., Cuellar-Partida, G., Painter, J.N., Nyholt, D.R., Morris, A.P., Fasching, P.A., Hein, A., Burghaus, S., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Vanderstichele, A., Doherty, J.A., Rossing, M.A., Wicklund, K.G., Chang-Claude, J., Eilber, U., Rudolph, A., Wang-Gohrke, S., Goodman, M.T., Bogdanova, N., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L.M., Edwards, R.P., Kelley, J.L., Modugno, F., Moysich, K.B., Ness, R.B., Cannioto, R., Hogdall, E., Jensen, A., Giles, G.G., Bruinsma, F., Kjaer, S.K., Hildebrandt, M.A., Liang, D., Lu, K.H., Wu, X., Bisogna, M., Dao, F., Levine, D.A., Cramer, D.W, Terry, K.L., Tworoger, S.S., Missmer, S., Bjorge, L., Salvesen, H.B., Kopperud, R.K., Bischof, K., Aben, K.K.H., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Brooks-Wilson, A., Olson, S.H., McGuire, V., Rothstein, J.H., Sieh, W., Whittemore, A.S., Cook, L.S., Le, N.D., Gilks, C.B., Gronwald, J., Jakubowska, A., Lubinski, J., Gawelko, J., Song, H., Tyrer, J.P., Wentzensen, N., Brinton, L., Trabert, B., Lissowska, J., McLaughlin, J.R., Narod, S.A., Phelan, C., Anton-Culver, H., Ziogas, A., Eccles, D., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Wu, A.H., Dansonka-Mieszkowska, A., Kupryjanczyk, J., Timorek, A., Szafron, L., Cunningham, J.M., Fridley, B.L., Winham, S.J., Bandera, E.V., Poole, E.M., Morgan, T.K., et al., Lu, Y., Cuellar-Partida, G., Painter, J.N., Nyholt, D.R., Morris, A.P., Fasching, P.A., Hein, A., Burghaus, S., Beckmann, M.W., Lambrechts, D., Nieuwenhuysen, E. Van, Vergote, I., Vanderstichele, A., Doherty, J.A., Rossing, M.A., Wicklund, K.G., Chang-Claude, J., Eilber, U., Rudolph, A., Wang-Gohrke, S., Goodman, M.T., Bogdanova, N., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L.M., Edwards, R.P., Kelley, J.L., Modugno, F., Moysich, K.B., Ness, R.B., Cannioto, R., Hogdall, E., Jensen, A., Giles, G.G., Bruinsma, F., Kjaer, S.K., Hildebrandt, M.A., Liang, D., Lu, K.H., Wu, X., Bisogna, M., Dao, F., Levine, D.A., Cramer, D.W, Terry, K.L., Tworoger, S.S., Missmer, S., Bjorge, L., Salvesen, H.B., Kopperud, R.K., Bischof, K., Aben, K.K.H., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Brooks-Wilson, A., Olson, S.H., McGuire, V., Rothstein, J.H., Sieh, W., Whittemore, A.S., Cook, L.S., Le, N.D., Gilks, C.B., Gronwald, J., Jakubowska, A., Lubinski, J., Gawelko, J., Song, H., Tyrer, J.P., Wentzensen, N., Brinton, L., Trabert, B., Lissowska, J., McLaughlin, J.R., Narod, S.A., Phelan, C., Anton-Culver, H., Ziogas, A., Eccles, D., Gayther, S.A., Gentry-Maharaj, A., Menon, U., Ramus, S.J., Wu, A.H., Dansonka-Mieszkowska, A., Kupryjanczyk, J., Timorek, A., Szafron, L., Cunningham, J.M., Fridley, B.L., Winham, S.J., Bandera, E.V., Poole, E.M., Morgan, T.K., and et al.

Abstract

Contains fulltext : 153959.pdf (publisher's version ) (Closed access), Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18-0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07-0.89 and 0.40, 95% CI = 0.05-0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11-0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci.

Published
2015

26. Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

Author

Kelemen, L.E., Terry, K.L., Goodman, M.T., Webb, P.M., Bandera, E.V., McGuire, V., Rossing, M.A., Wang, Q., Dicks, E., Tyrer, J.P., Song, H., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Plisiecka-Halasa, J., Timorek, A., Menon, U., Gentry-Maharaj, A., Gayther, S.A., Ramus, S.J., Narod, S.A., Risch, H.A., McLaughlin, J.R., Siddiqui, N., Glasspool, R., Paul, J., Carty, K., Gronwald, J., Lubinski, J., Jakubowska, A., Cybulski, C., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Altena, A.M. van, Aben, K.K.H., Olson, S.H., Orlow, I., Cramer, D.W, Levine, D.A., Bisogna, M., Giles, G.G., Southey, M.C., Bruinsma, F., Kjaer, S.K., Hogdall, E., Jensen, A., Hogdall, C.K., Lundvall, L., Engelholm, S.A., Heitz, F., Bois, A. du, Harter, P., Schwaab, I., Butzow, R., Nevanlinna, H., Pelttari, L.M., Leminen, A., Thompson, P.J., Lurie, G., Wilkens, L.R., Lambrechts, D., Nieuwenhuysen, E. Van, Lambrechts, S., Vergote, I., Beesley, J., Investigators, A.S.G.A., Fasching, P.A., Beckmann, M.W., Hein, A., Ekici, A.B., Doherty, J.A., Wu, A.H., Pearce, C.L., Pike, M.C., Stram, D., Chang-Claude, J., Rudolph, A., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Bogdanova, N., Antonenkova, N., Odunsi, K., Edwards, R.P., Kelley, J.L., Modugno, F., Ness, R.B., Karlan, B.Y., Walsh, C., Lester, J., Orsulic, S., Fridley, B.L., Vierkant, R.A., Cunningham, J.M., Wu, X., Lu, K., Liang, D., Hildebrandt, M.A.T., Weber, R.P., Iversen, E.S., Kelemen, L.E., Terry, K.L., Goodman, M.T., Webb, P.M., Bandera, E.V., McGuire, V., Rossing, M.A., Wang, Q., Dicks, E., Tyrer, J.P., Song, H., Kupryjanczyk, J., Dansonka-Mieszkowska, A., Plisiecka-Halasa, J., Timorek, A., Menon, U., Gentry-Maharaj, A., Gayther, S.A., Ramus, S.J., Narod, S.A., Risch, H.A., McLaughlin, J.R., Siddiqui, N., Glasspool, R., Paul, J., Carty, K., Gronwald, J., Lubinski, J., Jakubowska, A., Cybulski, C., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Altena, A.M. van, Aben, K.K.H., Olson, S.H., Orlow, I., Cramer, D.W, Levine, D.A., Bisogna, M., Giles, G.G., Southey, M.C., Bruinsma, F., Kjaer, S.K., Hogdall, E., Jensen, A., Hogdall, C.K., Lundvall, L., Engelholm, S.A., Heitz, F., Bois, A. du, Harter, P., Schwaab, I., Butzow, R., Nevanlinna, H., Pelttari, L.M., Leminen, A., Thompson, P.J., Lurie, G., Wilkens, L.R., Lambrechts, D., Nieuwenhuysen, E. Van, Lambrechts, S., Vergote, I., Beesley, J., Investigators, A.S.G.A., Fasching, P.A., Beckmann, M.W., Hein, A., Ekici, A.B., Doherty, J.A., Wu, A.H., Pearce, C.L., Pike, M.C., Stram, D., Chang-Claude, J., Rudolph, A., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I.B., Bogdanova, N., Antonenkova, N., Odunsi, K., Edwards, R.P., Kelley, J.L., Modugno, F., Ness, R.B., Karlan, B.Y., Walsh, C., Lester, J., Orsulic, S., Fridley, B.L., Vierkant, R.A., Cunningham, J.M., Wu, X., Lu, K., Liang, D., Hildebrandt, M.A.T., Weber, R.P., and Iversen, E.S.

Abstract

Contains fulltext : 137688.pdf (publisher's version ) (Closed access), SCOPE: We reevaluated previously reported associations between variants in pathways of one-carbon (1-C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with folate intake. METHODS AND RESULTS: Odds ratios (OR) for 446 genetic variants were estimated among 13,410 OC cases and 22,635 controls, and among 2281 cases and 3444 controls with folate information. Following multiple testing correction, the most significant main effect associations were for dihydropyrimidine dehydrogenase (DPYD) variants rs11587873 (OR = 0.92; p = 6 x 10(-5)) and rs828054 (OR = 1.06; p = 1 x 10(-4)). Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted significantly with folate in a multivariant analysis (corrected p = 9.9 x 10(-6)) but collectively explained only 0.2% of OC risk. Although no other associations were significant after multiple testing correction, variants in SHMT1 in 1-C transfer, previously reported with OC, suggested lower risk at higher folate (p(interaction) = 0.03-0.006). CONCLUSION: Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. SHMT1 SNP-by-folate interactions are plausible but require further validation. Polymorphisms in selected genes in purine metabolism were not associated with OC.

Published
2014

27. Risk of ovarian cancer and the NF-kappaB pathway: genetic association with IL1A and TNFSF10

Author

Charbonneau, B., Block, M.S., Bamlet, W.R., Vierkant, R.A., Kalli, K.R., Fogarty, Z., Rider, D.N., Sellers, T.A., Tworoger, S.S., Poole, E., Risch, H.A., Salvesen, H.B., Kiemeney, B., Baglietto, L., Giles, G.G., Severi, G., Trabert, B., Wentzensen, N., Chenevix-Trench, G., Whittemore, A.S., Sieh, W., Chang-Claude, J., Bandera, E.V., Orlow, I., Terry, K., Goodman, M.T., Thompson, P.J., Cook, L.S., Rossing, M.A., Ness, R.B., Narod, S.A., Kupryjanczyk, J., Lu, K., Butzow, R., Dork, T., Pejovic, T., Campbell, I., Le, N.D., Bunker, C.H., Bogdanova, N., Runnebaum, I.B., Eccles, D., Paul, J., Wu, A.H., Gayther, S.A., Hogdall, E., Heitz, F., Kaye, S.B., Karlan, B.Y., Anton-Culver, H., Gronwald, J., Hogdall, C.K., Lambrechts, D., Fasching, P.A., Menon, U., Schildkraut, J., Pearce, C.L., Levine, D.A., Kjaer, S.K., Cramer, D., Flanagan, J.M., Phelan, C.M., Brown, R., Massuger, L.F.A.G., Song, H., Doherty, J.A., Krakstad, C., Liang, D., Odunsi, K., Berchuck, A., Jensen, A., Lubinski, J., Nevanlinna, H., Bean, Y.T., Lurie, G., Ziogas, A., Walsh, C., Despierre, E., Brinton, L., Hein, A., Rudolph, A., Dansonka-Mieszkowska, A., Olson, S.H., Harter, P., Tyrer, J., Vitonis, A.F., Brooks-Wilson, A., Aben, K.K.H., Pike, M.C., Ramus, S.J., Wik, E., Cybulski, C., Lin, J., Sucheston, L., Edwards, R., McGuire, V., Lester, J., Bois, A. du, Lundvall, L., et al., Charbonneau, B., Block, M.S., Bamlet, W.R., Vierkant, R.A., Kalli, K.R., Fogarty, Z., Rider, D.N., Sellers, T.A., Tworoger, S.S., Poole, E., Risch, H.A., Salvesen, H.B., Kiemeney, B., Baglietto, L., Giles, G.G., Severi, G., Trabert, B., Wentzensen, N., Chenevix-Trench, G., Whittemore, A.S., Sieh, W., Chang-Claude, J., Bandera, E.V., Orlow, I., Terry, K., Goodman, M.T., Thompson, P.J., Cook, L.S., Rossing, M.A., Ness, R.B., Narod, S.A., Kupryjanczyk, J., Lu, K., Butzow, R., Dork, T., Pejovic, T., Campbell, I., Le, N.D., Bunker, C.H., Bogdanova, N., Runnebaum, I.B., Eccles, D., Paul, J., Wu, A.H., Gayther, S.A., Hogdall, E., Heitz, F., Kaye, S.B., Karlan, B.Y., Anton-Culver, H., Gronwald, J., Hogdall, C.K., Lambrechts, D., Fasching, P.A., Menon, U., Schildkraut, J., Pearce, C.L., Levine, D.A., Kjaer, S.K., Cramer, D., Flanagan, J.M., Phelan, C.M., Brown, R., Massuger, L.F.A.G., Song, H., Doherty, J.A., Krakstad, C., Liang, D., Odunsi, K., Berchuck, A., Jensen, A., Lubinski, J., Nevanlinna, H., Bean, Y.T., Lurie, G., Ziogas, A., Walsh, C., Despierre, E., Brinton, L., Hein, A., Rudolph, A., Dansonka-Mieszkowska, A., Olson, S.H., Harter, P., Tyrer, J., Vitonis, A.F., Brooks-Wilson, A., Aben, K.K.H., Pike, M.C., Ramus, S.J., Wik, E., Cybulski, C., Lin, J., Sucheston, L., Edwards, R., McGuire, V., Lester, J., Bois, A. du, Lundvall, L., and et al.

Abstract

Contains fulltext : 136742.pdf (publisher's version ) (Closed access), A missense single-nucleotide polymorphism (SNP) in the immune modulatory gene IL1A has been associated with ovarian cancer risk (rs17561). Although the exact mechanism through which this SNP alters risk of ovarian cancer is not clearly understood, rs17561 has also been associated with risk of endometriosis, an epidemiologic risk factor for ovarian cancer. Interleukin-1alpha (IL1A) is both regulated by and able to activate NF-kappaB, a transcription factor family that induces transcription of many proinflammatory genes and may be an important mediator in carcinogenesis. We therefore tagged SNPs in more than 200 genes in the NF-kappaB pathway for a total of 2,282 SNPs (including rs17561) for genotype analysis of 15,604 cases of ovarian cancer in patients of European descent, including 6,179 of high-grade serous (HGS), 2,100 endometrioid, 1,591 mucinous, 1,034 clear cell, and 1,016 low-grade serous, including 23,235 control cases spanning 40 studies in the Ovarian Cancer Association Consortium. In this large population, we confirmed the association between rs17561 and clear cell ovarian cancer [OR, 0.84; 95% confidence interval (CI), 0.76-0.93; P = 0.00075], which remained intact even after excluding participants in the prior study (OR, 0.85; 95% CI, 0.75-0.95; P = 0.006). Considering a multiple-testing-corrected significance threshold of P < 2.5 x 10(-5), only one other variant, the TNFSF10 SNP rs6785617, was associated significantly with a risk of ovarian cancer (low malignant potential tumors OR, 0.85; 95% CI, 0.79-0.91; P = 0.00002). Our results extend the evidence that borderline tumors may have a distinct genetic etiology. Further investigation of how these SNPs might modify ovarian cancer associations with other inflammation-related risk factors is warranted.

Published
2014

28. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

Author

Earp, M.A., Kelemen, L.E., Magliocco, A.M., Swenerton, K.D., Chenevix-Trench, G., Lu, Y., Hein, A., Ekici, A.B., Beckmann, M.W., Fasching, P.A., Lambrechts, D., Despierre, E., Vergote, I., Lambrechts, S., Doherty, J.A., Rossing, M.A., Chang-Claude, J., Rudolph, A., Friel, G., Moysich, K.B., Odunsi, K., Sucheston-Campbell, L., Lurie, G., Goodman, M.T., Carney, M.E., Thompson, P.J., Runnebaum, I.B., Durst, M., Hillemanns, P., Dork, T., Antonenkova, N., Bogdanova, N., Leminen, A., Nevanlinna, H., Pelttari, L.M., Butzow, R., Bunker, C.H., Modugno, F., Edwards, R.P., Ness, R.B., Bois, A. du, Heitz, F., Schwaab, I., Harter, P., Karlan, B.Y., Walsh, C., Lester, J., Jensen, A., Kjaer, S.K., Hogdall, C.K., Hogdall, E., Lundvall, L., Sellers, T.A., Fridley, B.L., Goode, E.L., Cunningham, J.M., Vierkant, R.A., Giles, G.G., Baglietto, L., Severi, G., Southey, M.C., Liang, D., Wu, X., Lu, K., Hildebrandt, M.A.T., Levine, D.A., Bisogna, M., Schildkraut, J.M., Iversen, E.S., Weber, R.P., Berchuck, A., Cramer, D.W, Terry, K.L., Poole, E.M., Tworoger, S.S., Bandera, E.V., Chandran, U., Orlow, I., Olson, S.H., Wik, E., Salvesen, H.B., Bjorge, L., Halle, M.K., Altena, A.M. van, Aben, K.K.H., Kiemeney, B., Massuger, L.F.A.G., Pejovic, T., Bean, Y.T., Cybulski, C., Gronwald, J., Lubinski, J., Wentzensen, N., Brinton, L.A., Lissowska, J., Garcia-Closas, M., Dicks, E., et al., Earp, M.A., Kelemen, L.E., Magliocco, A.M., Swenerton, K.D., Chenevix-Trench, G., Lu, Y., Hein, A., Ekici, A.B., Beckmann, M.W., Fasching, P.A., Lambrechts, D., Despierre, E., Vergote, I., Lambrechts, S., Doherty, J.A., Rossing, M.A., Chang-Claude, J., Rudolph, A., Friel, G., Moysich, K.B., Odunsi, K., Sucheston-Campbell, L., Lurie, G., Goodman, M.T., Carney, M.E., Thompson, P.J., Runnebaum, I.B., Durst, M., Hillemanns, P., Dork, T., Antonenkova, N., Bogdanova, N., Leminen, A., Nevanlinna, H., Pelttari, L.M., Butzow, R., Bunker, C.H., Modugno, F., Edwards, R.P., Ness, R.B., Bois, A. du, Heitz, F., Schwaab, I., Harter, P., Karlan, B.Y., Walsh, C., Lester, J., Jensen, A., Kjaer, S.K., Hogdall, C.K., Hogdall, E., Lundvall, L., Sellers, T.A., Fridley, B.L., Goode, E.L., Cunningham, J.M., Vierkant, R.A., Giles, G.G., Baglietto, L., Severi, G., Southey, M.C., Liang, D., Wu, X., Lu, K., Hildebrandt, M.A.T., Levine, D.A., Bisogna, M., Schildkraut, J.M., Iversen, E.S., Weber, R.P., Berchuck, A., Cramer, D.W, Terry, K.L., Poole, E.M., Tworoger, S.S., Bandera, E.V., Chandran, U., Orlow, I., Olson, S.H., Wik, E., Salvesen, H.B., Bjorge, L., Halle, M.K., Altena, A.M. van, Aben, K.K.H., Kiemeney, B., Massuger, L.F.A.G., Pejovic, T., Bean, Y.T., Cybulski, C., Gronwald, J., Lubinski, J., Wentzensen, N., Brinton, L.A., Lissowska, J., Garcia-Closas, M., Dicks, E., and et al.

Abstract

Contains fulltext : 138102.pdf (publisher's version ) (Closed access), Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes.

Published
2014

29. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

Author

Shen, H., Fridley, B.L., Song, H., Lawrenson, K., Cunningham, J.M., Ramus, S.J., Cicek, M.S., Tyrer, J., Stram, D., Larson, M.C., Kobel, M., Ziogas, A., Zheng, W., Yang, H.P., Wu, A.H., Wozniak, E.L., Ling Woo, Y., Winterhoff, B., Wik, E., Whittemore, A.S., Wentzensen, N., Palmieri Weber, R., Vitonis, A.F., Vincent, D., Vierkant, R.A., Vergote, I., Berg, D.P.G. van den, Altena, A.M. van, Tworoger, S.S., Thompson, P.J., Tessier, D.C., Terry, K.L., Teo, S.H., Templeman, C., Stram, D.O., Southey, M.C., Sieh, W., Siddiqui, N., Shvetsov, Y.B., Shu, X.O., Shridhar, V., Wang-Gohrke, S., Severi, G., Schwaab, I., Salvesen, H.B., Rzepecka, I.K., Runnebaum, I.B., Rossing, M.A., Rodriguez-Rodriguez, L., Risch, H.A., Renner, S.P., Poole, E.M., Pike, M.C., Phelan, C.M., Pelttari, L.M., Pejovic, T., Paul, J., Orlow, I., Zawiah Omar, S., Olson, S.H., Odunsi, K., Nickels, S., Nevanlinna, H., Ness, R.B., Narod, S.A., Nakanishi, T., Moysich, K.B., Monteiro, A.N., Moes-Sosnowska, J., Modugno, F., Menon, U., McLaughlin, J.R., McGuire, V., Matsuo, K., Mat Adenan, N.A., Massuger, L.F.A.G., Lurie, G., Lundvall, L., Lubinski, J., Lissowska, J., Levine, D.A., Leminen, A., Lee, A.W., Le, N.D., Lambrechts, S., Lambrechts, D., Kupryjanczyk, J., Krakstad, C., Konecny, G.E., Kruger Kjaer, S., Kiemeney, L.A.L.M., Kelemen, L.E., Keeney, G.L., Karlan, B.Y., Karevan, R., Kalli, K.R., Kajiyama, H., Ji, B.T., Jensen, A., Jakubowska, A., Iversen, E., Hosono, S., Hogdall, C.K., Hogdall, E., Hoatlin, M., Hillemans, P., Heitz, F., Hein, R., Harter, P., Halle, M.K., Hall, P., Gronwald, J., Gore, M., Goodman, M.T., Giles, G.G., Gentry-Maharaj, A., Garcia-Closas, M., Flanagan, J.M., Fasching, P.A., Ekici, A.B., Edwards, R., Eccles, D., Easton, D.F., Durst, M., Bois, A. du, Dork, T., Doherty, J.A., Despierre, E., Dansonka-Mieszkowska, A., Cybulski, C., Cramer, D.W, Cook, L.S., Chen, X., Charbonneau, B., Chang-Claude, J., Campbell, I., Butzow, R., Bunker, C.H., Brueggmann, D., Brown, R., Brooks-Wilson, A., Brinton, L.A., Bogdanova, N., Block, M.S., Benjamin, E., Beesley, J., Beckmann, M.W., Bandera, E.V., Baglietto, L., Bacot, F., Armasu, S.M., Antonenkova, N., Anton-Culver, H., Aben, K.K.H., Liang, D., et al., Shen, H., Fridley, B.L., Song, H., Lawrenson, K., Cunningham, J.M., Ramus, S.J., Cicek, M.S., Tyrer, J., Stram, D., Larson, M.C., Kobel, M., Ziogas, A., Zheng, W., Yang, H.P., Wu, A.H., Wozniak, E.L., Ling Woo, Y., Winterhoff, B., Wik, E., Whittemore, A.S., Wentzensen, N., Palmieri Weber, R., Vitonis, A.F., Vincent, D., Vierkant, R.A., Vergote, I., Berg, D.P.G. van den, Altena, A.M. van, Tworoger, S.S., Thompson, P.J., Tessier, D.C., Terry, K.L., Teo, S.H., Templeman, C., Stram, D.O., Southey, M.C., Sieh, W., Siddiqui, N., Shvetsov, Y.B., Shu, X.O., Shridhar, V., Wang-Gohrke, S., Severi, G., Schwaab, I., Salvesen, H.B., Rzepecka, I.K., Runnebaum, I.B., Rossing, M.A., Rodriguez-Rodriguez, L., Risch, H.A., Renner, S.P., Poole, E.M., Pike, M.C., Phelan, C.M., Pelttari, L.M., Pejovic, T., Paul, J., Orlow, I., Zawiah Omar, S., Olson, S.H., Odunsi, K., Nickels, S., Nevanlinna, H., Ness, R.B., Narod, S.A., Nakanishi, T., Moysich, K.B., Monteiro, A.N., Moes-Sosnowska, J., Modugno, F., Menon, U., McLaughlin, J.R., McGuire, V., Matsuo, K., Mat Adenan, N.A., Massuger, L.F.A.G., Lurie, G., Lundvall, L., Lubinski, J., Lissowska, J., Levine, D.A., Leminen, A., Lee, A.W., Le, N.D., Lambrechts, S., Lambrechts, D., Kupryjanczyk, J., Krakstad, C., Konecny, G.E., Kruger Kjaer, S., Kiemeney, L.A.L.M., Kelemen, L.E., Keeney, G.L., Karlan, B.Y., Karevan, R., Kalli, K.R., Kajiyama, H., Ji, B.T., Jensen, A., Jakubowska, A., Iversen, E., Hosono, S., Hogdall, C.K., Hogdall, E., Hoatlin, M., Hillemans, P., Heitz, F., Hein, R., Harter, P., Halle, M.K., Hall, P., Gronwald, J., Gore, M., Goodman, M.T., Giles, G.G., Gentry-Maharaj, A., Garcia-Closas, M., Flanagan, J.M., Fasching, P.A., Ekici, A.B., Edwards, R., Eccles, D., Easton, D.F., Durst, M., Bois, A. du, Dork, T., Doherty, J.A., Despierre, E., Dansonka-Mieszkowska, A., Cybulski, C., Cramer, D.W, Cook, L.S., Chen, X., Charbonneau, B., Chang-Claude, J., Campbell, I., Butzow, R., Bunker, C.H., Brueggmann, D., Brown, R., Brooks-Wilson, A., Brinton, L.A., Bogdanova, N., Block, M.S., Benjamin, E., Beesley, J., Beckmann, M.W., Bandera, E.V., Baglietto, L., Bacot, F., Armasu, S.M., Antonenkova, N., Anton-Culver, H., Aben, K.K.H., Liang, D., and et al.

Abstract

Contains fulltext : 118378.pdf (publisher's version ) (Open Access), HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian cancer, leading us to hypothesize that variation in this gene differentially associates with epithelial ovarian cancer risk according to histological subtype. Here we comprehensively map variation in HNF1B with respect to epithelial ovarian cancer risk and analyse DNA methylation and expression profiles across histological subtypes. Different single-nucleotide polymorphisms associate with invasive serous (rs7405776 odds ratio (OR)=1.13, P=3.1 x 10(-10)) and clear cell (rs11651755 OR=0.77, P=1.6 x 10(-8)) epithelial ovarian cancer. Risk alleles for the serous subtype associate with higher HNF1B-promoter methylation in these tumours. Unmethylated, expressed HNF1B, primarily present in clear cell tumours, coincides with a CpG island methylator phenotype affecting numerous other promoters throughout the genome. Different variants in HNF1B associate with risk of serous and clear cell epithelial ovarian cancer; DNA methylation and expression patterns are also notably distinct between these subtypes. These findings underscore distinct mechanisms driving different epithelial ovarian cancer histological subtypes.

Published
2013

30. Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers

Author

Beesley, J., Pickett, H.A., Johnatty, S.E., Dunning, A.M., Chen, X., Li, J., Michailidou, K., Lu, Y., Rider, D.N., Palmieri, R.T., Stutz, M.D., Lambrechts, D., Despierre, E., Lambrechts, S., Vergote, I., Chang-Claude, J., Nickels, S., Vrieling, A., Flesch-Janys, D., Wang-Gohrke, S., Eilber, U., Bogdanova, N., Antonenkova, N., Runnebaum, I.B., Dork, T., Goodman, M.T., Lurie, G., Wilkens, L.R., Matsuno, R.K., Kiemeney, L.A.L.M., Aben, K.K.H., Marees, T., Massuger, L.F.A.G., Fridley, B.L., Vierkant, R.A., Bandera, E.V., Olson, S.H., Orlow, I., Rodriguez-Rodriguez, L., Cook, L.S., Le, N.D., Brooks-Wilson, A., Kelemen, L.E., Campbell, I., Gayther, S.A., Ramus, S.J., Gentry-Maharaj, A., Menon, U., Ahmed, S., Baynes, C., Pharoah, P.D., Muir, K., Lophatananon, A., Chaiwerawattana, A., Wiangnon, S., MacGregor, S., Easton, D.F., Reddel, R.R., Goode, E.L., Chenevix-Trench, G., Beesley, J., Pickett, H.A., Johnatty, S.E., Dunning, A.M., Chen, X., Li, J., Michailidou, K., Lu, Y., Rider, D.N., Palmieri, R.T., Stutz, M.D., Lambrechts, D., Despierre, E., Lambrechts, S., Vergote, I., Chang-Claude, J., Nickels, S., Vrieling, A., Flesch-Janys, D., Wang-Gohrke, S., Eilber, U., Bogdanova, N., Antonenkova, N., Runnebaum, I.B., Dork, T., Goodman, M.T., Lurie, G., Wilkens, L.R., Matsuno, R.K., Kiemeney, L.A.L.M., Aben, K.K.H., Marees, T., Massuger, L.F.A.G., Fridley, B.L., Vierkant, R.A., Bandera, E.V., Olson, S.H., Orlow, I., Rodriguez-Rodriguez, L., Cook, L.S., Le, N.D., Brooks-Wilson, A., Kelemen, L.E., Campbell, I., Gayther, S.A., Ramus, S.J., Gentry-Maharaj, A., Menon, U., Ahmed, S., Baynes, C., Pharoah, P.D., Muir, K., Lophatananon, A., Chaiwerawattana, A., Wiangnon, S., MacGregor, S., Easton, D.F., Reddel, R.R., Goode, E.L., and Chenevix-Trench, G.

Abstract

Contains fulltext : 96941.pdf (publisher's version ) (Open Access), Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). We have carried out fine-mapping of this region in EOC which implicates an association with a single nucleotide polymorphism (SNP) within the TERT promoter. We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity.

Published
2011

31. Size of sentinel-node metastasis and chances of non-sentinel-node involvement and survival in early stage vulvar cancer: results from GROINSS-V, a multicentre observational study.

Author

Oonk, M.H., Hemel, B.M. van, Hollema, H., Hullu, J.A. de, Ansink, A.C., Vergote, I., Verheijen, R.H., Maggioni, A., Gaarenstroom, K.N., Baldwin, P.J., Dorst, E.B. van, Velden, J. Van der, Hermans, R.H., Putten, H.W. van der, Drouin, P., Runnebaum, I.B., Sluiter, W.J., Zee, A.G. van der, Oonk, M.H., Hemel, B.M. van, Hollema, H., Hullu, J.A. de, Ansink, A.C., Vergote, I., Verheijen, R.H., Maggioni, A., Gaarenstroom, K.N., Baldwin, P.J., Dorst, E.B. van, Velden, J. Van der, Hermans, R.H., Putten, H.W. van der, Drouin, P., Runnebaum, I.B., Sluiter, W.J., and Zee, A.G. van der

Abstract

1 juli 2010, Contains fulltext : 89256.pdf (publisher's version ) (Closed access), BACKGROUND: Currently, all patients with vulvar cancer with a positive sentinel node undergo inguinofemoral lymphadenectomy, irrespective of the size of sentinel-node metastases. Our study aimed to assess the association between size of sentinel-node metastasis and risk of metastases in non-sentinel nodes, and risk of disease-specific survival in early stage vulvar cancer. METHODS: In the GROningen INternational Study on Sentinel nodes in Vulvar cancer (GROINSS-V), sentinel-node detection was done in patients with T1-T2 (<4 cm) squamous-cell vulvar cancer, followed by inguinofemoral lymphadenectomy if metastatic disease was identified in the sentinel node, either by routine examination or pathological ultrastaging. For the present study, sentinel nodes were independently reviewed by two pathologists. FINDINGS: Metastatic disease was identified in one or more sentinel nodes in 135 (33%) of 403 patients, and 115 (85%) of these patients had inguinofemoral lymphadenectomy. The risk of non-sentinel-node metastases was higher when the sentinel node was found to be positive with routine pathology than with ultrastaging (23 of 85 groins vs three of 56 groins, p=0.001). For this study, 723 sentinel nodes in 260 patients (2.8 sentinel nodes per patient) were reviewed. The proportion of patients with non-sentinel-node metastases increased with size of sentinel-node metastasis: one of 24 patients with individual tumour cells had a non-sentinel-node metastasis; two of 19 with metastases 2 mm or smaller; two of 15 with metastases larger than 2 mm to 5 mm; and ten of 21 with metastases larger than 5 mm. Disease-specific survival for patients with sentinel-node metastases larger than 2 mm was lower than for those with sentinel-node metastases 2 mm or smaller (69.5%vs 94.4%, p=0.001). INTERPRETATION: Our data show that the risk of non-sentinel-node metastases increases with size of sentinel-node metastasis. No size cutoff seems to exist below which chances of non-sentinel-node metas

Published
2010

37. Monitoring circulating epithelial tumor cells (CETCs) during primary systemic chemotherapy including trastuzumab for early prediction of outcome in patients with Her2/neu-positive tumors

Author

Gajda, M., primary, Camara, O., additional, Oppel, S., additional, Kroll, T., additional, Jörke, C., additional, Krauspe, S., additional, Hammer, U., additional, Rabenstein, C., additional, Untch, M., additional, Runnebaum, I.B., additional, and Pachmann, K., additional

Published
2008
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43. Differential characteristics of two new tumorigenic cell lines of human breast carcinoma origin

Author

Möbus, V.J., Moll, R., Gerharz, C.D., Kieback, D.G., Merk, O., Runnebaum, I.B., Linner, S., Dreher, L., Grill, H.-J., and Kreienberg, R.

Abstract

Permanent human tumor cell lines are an important tool for the study of breast cancer. Two new breast cancer cell lines (BrCa-MZ-01 and BrCa-MZ-02) were isolated from a solid tumor and a pleural effusion, respectively. One cell line was established from a medullary carcinoma, the other from a ductal carcinoma. These cells exhibit ultrastructural and immunohistochemical features of epithelial cells of mammary origin. Intermediate filament and cytokeratin typing showed a clear predominance of the simple-epithelial cytokeratins CK 8, CK 18 and CK 19, although the expression was reduced in comparison to the hormone receptor-positive reference cell lines MCF-7 and ZR-75-1. Both cell lines produced slow-growing tumors after subcutaneous (s.c.) transplantation of 1 × 107 viable tumor cells into nude mice. The cell line BrCa-MZ-01 expresses the estrogen and progesterone receptor, whereas the cell line BrCa-MZ-02 remains negative. Both cell lines are positive for secretion of platelet-derived growth factor (PDGF) and transforming growth factor-β (TGF-β), whereas interleukin-6 (IL-6) is only secreted by the cell line BrCa-MZ-02. Int. J. Cancer 77:415–423, 1998. © 1998 Wiley-Liss, Inc.

Published
1998
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44. Human epithelial ovarian cancer xenotransplants into nude mice can be cured by adenovirus-mediated thymidine kinase gene therapy

Author

Tong, X.W., Agoulnik, I., Blankenburg, K., Contant, C.F., Hasenburg, A., Runnebaum, I.B., Stickeler, E., Kaplan, A.L., Woo, S.L.C., and Kieback, D.G.

Subjects
Thymidine -- Health aspects -- Evaluation, Ovarian cancer -- Care and treatment, Health, Evaluation, Care and treatment, Health aspects
Abstract

Tong, X.W.; Agoulnik, I.; Blankenburg, K.; Contant, C.F.; Hasenburg, A.; Run- nebaum, I.B.; Stickeler, E.; Kaplan, A.L.; Woo, S.L.C.; Kieback, D.G. 'Human Epithelial Ovarian Cancer Xenotransplants into Nude Mice Can [...]

Published
1997

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