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1. Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma: an Ovarian Tumor Tissue Analysis Consortium Study

Author

Weir, Ashley, Kang, Eun-Young, Meagher, Nicola S, Nelson, Gregg S, Ghatage, Prafull, Lee, Cheng-Han, Riggan, Marjorie J, Gentry-Maharaj, Aleksandra, Ryan, Andy, Singh, Naveena, Widschwendter, Martin, Alsop, Jennifer, Anglesio, Michael S, Beckmann, Matthias W, Berger, Jessica, Bisinotto, Christiani, Boros, Jessica, Brand, Alison H, Brenton, James D, Brooks-Wilson, Angela, Carney, Michael E, Cunningham, Julie M, Cushing-Haugen, Kara L, Cybulski, Cezary, Elishaev, Esther, Erber, Ramona, Fereday, Sian, Fischer, Anna, Paz-Ares, Luis, Gayarre, Javier, Gilks, Blake C, Grube, Marcel, Harnett, Paul R, Harris, Holly R, Hartmann, Arndt, Hein, Alexander, Hendley, Joy, Hernandez, Brenda Y, Heublein, Sabine, Huang, Yajue, Huzarski, Tomasz, Jakubowska, Anna, Jimenez-Linan, Mercedes, Kennedy, Catherine J, Kommoss, Felix KF, Koziak, Jennifer M, Kraemer, Bernhard, Le, Nhu D, Lesnock, Jaime, Lester, Jenny, Lubiński, Jan, Menkiszak, Janusz, Ney, Britta, Olawaiye, Alexander, Orsulic, Sandra, Osorio, Ana, Robles-Díaz, Luis, Ruebner, Matthias, Shah, Mitul, Sharma, Raghwa, Shvetsov, Yurii B, Steed, Helen, Talhouk, Aline, Taylor, Sarah E, Traficante, Nadia, Vierkant, Robert A, Wang, Chen, Wilkens, Lynne R, Winham, Stacey J, Benitez, Javier, Berchuck, Andrew, Bowtell, David D, Candido dos Reis, Francisco J, Cook, Linda S, DeFazio, Anna, Doherty, Jennifer A, Fasching, Peter A, García, María J, Goode, Ellen L, Goodman, Marc T, Gronwald, Jacek, Huntsman, David G, Karlan, Beth Y, Kommoss, Stefan, Modugno, Francesmary, Schildkraut, Joellen M, Sinn, Hans-Peter, Staebler, Annette, Kelemen, Linda E, Ford, Caroline E, Menon, Usha, Pharoah, Paul DP, Köbel, Martin, and Ramus, Susan J

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Ovarian Cancer, Clinical Research, Rare Diseases, Cancer, Aetiology, 2.1 Biological and endogenous factors, Humans, Female, Ovarian Neoplasms, Prognosis, Survival Analysis, RNA, Messenger, Cystadenocarcinoma, Serous, Biomarkers, Tumor, Forkhead Transcription Factors, AOCs group, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundRecently, we showed a >60% difference in 5-year survival for patients with tubo-ovarian high-grade serous carcinoma (HGSC) when stratified by a 101-gene mRNA expression prognostic signature. Given the varied patient outcomes, this study aimed to translate prognostic mRNA markers into protein expression assays by immunohistochemistry and validate their survival association in HGSC.MethodsTwo prognostic genes, FOXJ1 and GMNN, were selected based on high-quality antibodies, correlation with protein expression and variation in immunohistochemical scores in a preliminary cohort (n = 134 and n = 80, respectively). Six thousand four hundred and thirty-four (FOXJ1) and 5470 (GMNN) formalin-fixed, paraffin-embedded ovarian neoplasms (4634 and 4185 HGSC, respectively) represented on tissue microarrays from the Ovarian Tumor Tissue Analysis consortium underwent immunohistochemical staining and scoring, then univariate and multivariate survival analysis.ResultsConsistent with mRNA, FOXJ1 protein expression exhibited a linear, increasing association with improved overall survival in HGSC patients. Women with >50% expression had the most favourable outcomes (HR = 0.78, 95% CI 0.67-0.91, p 35% GMNN expression showed a trend for better outcomes, though this was not significant.ConclusionWe provide foundational evidence for the prognostic value of FOXJ1 in HGSC, validating the prior mRNA-based prognostic association by immunohistochemistry.

Published
2023

2. Clinical and pathological associations of PTEN expression in ovarian cancer: a multicentre study from the Ovarian Tumour Tissue Analysis Consortium.

Author

Martins, Filipe Correia, Couturier, Dominique-Laurent, Paterson, Anna, Karnezis, Anthony N, Chow, Christine, Nazeran, Tayyebeh M, Odunsi, Adekunle, Gentry-Maharaj, Aleksandra, Vrvilo, Aleksandra, Hein, Alexander, Talhouk, Aline, Osorio, Ana, Hartkopf, Andreas D, Brooks-Wilson, Angela, DeFazio, Anna, Fischer, Anna, Hartmann, Arndt, Hernandez, Brenda Y, McCauley, Bryan M, Karpinskyj, Chloe, de Sousa, Christiani B, Høgdall, Claus, Tiezzi, Daniel G, Herpel, Esther, Taran, Florin Andrei, Modugno, Francesmary, Keeney, Gary, Nelson, Gregg, Steed, Helen, Song, Honglin, Luk, Hugh, Benitez, Javier, Alsop, Jennifer, Koziak, Jennifer M, Lester, Jenny, Rothstein, Joseph H, de Andrade, Jurandyr M, Lundvall, Lene, Paz-Ares, Luis, Robles-Díaz, Luis, Wilkens, Lynne R, Garcia, Maria J, Intermaggio, Maria P, Alcaraz, Marie-Lyne, Brett, Mary A, Beckmann, Matthias W, Jimenez-Linan, Mercedes, Anglesio, Michael, Carney, Michael E, Schneider, Michael, Traficante, Nadia, Pejovic, Nadja, Singh, Naveena, Le, Nhu, Sinn, Peter, Ghatage, Prafull, Erber, Ramona, Edwards, Robert, Vierkant, Robert, Ness, Roberta B, Leung, Samuel, Orsulic, Sandra, Brucker, Sara Y, Kaufmann, Scott H, Fereday, Sian, Gayther, Simon, Winham, Stacey J, Kommoss, Stefan, Pejovic, Tanja, Longacre, Teri A, McGuire, Valerie, Rhenius, Valerie, Sieh, Weiva, Shvetsov, Yurii B, Whittemore, Alice S, Staebler, Annette, Karlan, Beth Y, Rodriguez-Antona, Cristina, Bowtell, David D, Goode, Ellen L, Høgdall, Estrid, Candido Dos Reis, Francisco J, Gronwald, Jacek, Chang-Claude, Jenny, Moysich, Kirsten B, Kelemen, Linda E, Cook, Linda S, Goodman, Marc T, Fasching, Peter A, Crawford, Robin, Deen, Suha, Menon, Usha, Huntsman, David G, Köbel, Martin, Ramus, Susan J, Pharoah, Paul DP, and Brenton, James D

Subjects
Oncology & Carcinogenesis, Oncology and Carcinogenesis, Public Health and Health Services
Abstract

BackgroundPTEN loss is a putative driver in histotypes of ovarian cancer (high-grade serous (HGSOC), endometrioid (ENOC), clear cell (CCOC), mucinous (MOC), low-grade serous (LGSOC)). We aimed to characterise PTEN expression as a biomarker in epithelial ovarian cancer in a large population-based study.MethodsTumours from 5400 patients from a multicentre observational, prospective cohort study of the Ovarian Tumour Tissue Analysis Consortium were used to evaluate associations between immunohistochemical PTEN patterns and overall survival time, age, stage, grade, residual tumour, CD8+ tumour-infiltrating lymphocytes (TIL) counts, expression of oestrogen receptor (ER), progesterone receptor (PR) and androgen receptor (AR) by means of Cox proportional hazard models and generalised Cochran-Mantel-Haenszel tests.ResultsDownregulation of cytoplasmic PTEN expression was most frequent in ENOC (most frequently in younger patients; p value = 0.0001) and CCOC and was associated with longer overall survival in HGSOC (hazard ratio: 0.78, 95% CI: 0.65-0.94, p value = 0.022). PTEN expression was associated with ER, PR and AR expression (p values: 0.0008, 0.062 and 0.0002, respectively) in HGSOC and with lower CD8 counts in CCOC (p value

Published
2020

3. Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer

Author

Goode, Ellen L, Block, Matthew S, Kalli, Kimberly R, Vierkant, Robert A, Chen, Wenqian, Fogarty, Zachary C, Gentry-Maharaj, Aleksandra, Tołoczko, Aleksandra, Hein, Alexander, Bouligny, Aliecia L, Jensen, Allan, Osorio, Ana, Hartkopf, Andreas D, Ryan, Andy, Chudecka-Głaz, Anita, Magliocco, Anthony M, Hartmann, Arndt, Jung, Audrey Y, Gao, Bo, Hernandez, Brenda Y, Fridley, Brooke L, McCauley, Bryan M, Kennedy, Catherine J, Wang, Chen, Karpinskyj, Chloe, de Sousa, Christiani B, Tiezzi, Daniel G, Wachter, David L, Herpel, Esther, Taran, Florin Andrei, Modugno, Francesmary, Nelson, Gregg, Lubiński, Jan, Menkiszak, Janusz, Alsop, Jennifer, Lester, Jenny, García-Donas, Jesús, Nation, Jill, Hung, Jillian, Palacios, José, Rothstein, Joseph H, Kelley, Joseph L, de Andrade, Jurandyr M, Robles-Díaz, Luis, Intermaggio, Maria P, Widschwendter, Martin, Beckmann, Matthias W, Ruebner, Matthias, Jimenez-Linan, Mercedes, Singh, Naveena, Oszurek, Oleg, Harnett, Paul R, Rambau, Peter F, Sinn, Peter, Wagner, Philipp, Ghatage, Prafull, Sharma, Raghwa, Edwards, Robert P, Ness, Roberta B, Orsulic, Sandra, Brucker, Sara Y, Johnatty, Sharon E, Longacre, Teri A, Eilber, Ursula, McGuire, Valerie, Sieh, Weiva, Natanzon, Yanina, Li, Zheng, Whittemore, Alice S, deFazio, Anna, Staebler, Annette, Karlan, Beth Y, Gilks, Blake, Bowtell, David D, Høgdall, Estrid, dos Reis, Francisco J Candido, Steed, Helen, Campbell, Ian G, Gronwald, Jacek, Benítez, Javier, Koziak, Jennifer M, Chang-Claude, Jenny, Moysich, Kirsten B, Kelemen, Linda E, Cook, Linda S, Goodman, Marc T, García, María José, Fasching, Peter A, Kommoss, Stefan, Deen, Suha, Kjaer, Susanne K, Menon, Usha, Brenton, James D, Pharoah, Paul DP, Chenevix-Trench, Georgia, Huntsman, David G, Winham, Stacey J, Köbel, Martin, and Ramus, Susan J

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Immunology, Cancer, Prevention, Vaccine Related, Rare Diseases, Clinical Research, Ovarian Cancer, BRCA2 Protein, CD8 Antigens, Carcinoma, Ovarian Epithelial, Cohort Studies, Cystadenocarcinoma, Serous, Female, Humans, Lymphocytes, Tumor-Infiltrating, Middle Aged, Mutation, Neoplasm Grading, Ovarian Neoplasms, Prospective Studies, Survival Analysis, Treatment Outcome, Ovarian Tumor Tissue Analysis (OTTA) Consortium, Public Health and Health Services, Oncology and carcinogenesis
Abstract

ImportanceCytotoxic CD8+ tumor-infiltrating lymphocytes (TILs) participate in immune control of epithelial ovarian cancer; however, little is known about prognostic patterns of CD8+ TILs by histotype and in relation to other clinical factors.ObjectiveTo define the prognostic role of CD8+ TILs in epithelial ovarian cancer.Design, setting, and participantsThis was a multicenter observational, prospective survival cohort study of the Ovarian Tumor Tissue Analysis Consortium. More than 5500 patients, including 3196 with high-grade serous ovarian carcinomas (HGSOCs), were followed prospectively for over 24 650 person-years.ExposuresFollowing immunohistochemical analysis, CD8+ TILs were identified within the epithelial components of tumor islets. Patients were grouped based on the estimated number of CD8+ TILs per high-powered field: negative (none), low (1-2), moderate (3-19), and high (≥20). CD8+ TILs in a subset of patients were also assessed in a quantitative, uncategorized manner, and the functional form of associations with survival was assessed using penalized B-splines.Main outcomes and measuresOverall survival time.ResultsThe final sample included 5577 women; mean age at diagnosis was 58.4 years (median, 58.2 years). Among the 5 major invasive histotypes, HGSOCs showed the most infiltration. CD8+ TILs in HGSOCs were significantly associated with longer overall survival; median survival was 2.8 years for patients with no CD8+ TILs and 3.0 years, 3.8 years, and 5.1 years for patients with low, moderate, or high levels of CD8+ TILs, respectively (P value for trend = 4.2 × 10−16). A survival benefit was also observed among women with endometrioid and mucinous carcinomas, but not for those with the other histotypes. Among HGSOCs, CD8+ TILs were favorable regardless of extent of residual disease following cytoreduction, known standard treatment, and germline BRCA1 pathogenic mutation, but were not prognostic for BRCA2 mutation carriers. Evaluation of uncategorized CD8+ TIL counts showed a near-log-linear functional form.Conclusions and relevanceThis study demonstrates the histotype-specific nature of immune infiltration and provides definitive evidence for a dose-response relationship between CD8+ TILs and HGSOC survival. That the extent of infiltration is prognostic, not merely its presence or absence, suggests that understanding factors that drive infiltration will be the key to unraveling outcome heterogeneity in this cancer.

Published
2017

4. Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer.

Author

Ovarian Tumor Tissue Analysis (OTTA) Consortium, Goode, Ellen L, Block, Matthew S, Kalli, Kimberly R, Vierkant, Robert A, Chen, Wenqian, Fogarty, Zachary C, Gentry-Maharaj, Aleksandra, Tołoczko, Aleksandra, Hein, Alexander, Bouligny, Aliecia L, Jensen, Allan, Osorio, Ana, Hartkopf, Andreas, Ryan, Andy, Chudecka-Głaz, Anita, Magliocco, Anthony M, Hartmann, Arndt, Jung, Audrey Y, Gao, Bo, Hernandez, Brenda Y, Fridley, Brooke L, McCauley, Bryan M, Kennedy, Catherine J, Wang, Chen, Karpinskyj, Chloe, de Sousa, Christiani B, Tiezzi, Daniel G, Wachter, David L, Herpel, Esther, Taran, Florin Andrei, Modugno, Francesmary, Nelson, Gregg, Lubiński, Jan, Menkiszak, Janusz, Alsop, Jennifer, Lester, Jenny, García-Donas, Jesús, Nation, Jill, Hung, Jillian, Palacios, José, Rothstein, Joseph H, Kelley, Joseph L, de Andrade, Jurandyr M, Robles-Díaz, Luis, Intermaggio, Maria P, Widschwendter, Martin, Beckmann, Matthias W, Ruebner, Matthias, Jimenez-Linan, Mercedes, Singh, Naveena, Oszurek, Oleg, Harnett, Paul R, Rambau, Peter F, Sinn, Peter, Wagner, Philipp, Ghatage, Prafull, Sharma, Raghwa, Edwards, Robert P, Ness, Roberta B, Orsulic, Sandra, Brucker, Sara Y, Johnatty, Sharon E, Longacre, Teri A, Ursula, Eilber, McGuire, Valerie, Sieh, Weiva, Natanzon, Yanina, Li, Zheng, Whittemore, Alice S, Anna, deFazio, Staebler, Annette, Karlan, Beth Y, Gilks, Blake, Bowtell, David D, Høgdall, Estrid, Candido dos Reis, Francisco J, Steed, Helen, Campbell, Ian G, Gronwald, Jacek, Benítez, Javier, Koziak, Jennifer M, Chang-Claude, Jenny, Moysich, Kirsten B, Kelemen, Linda E, Cook, Linda S, Goodman, Marc T, García, María José, Fasching, Peter A, Kommoss, Stefan, Deen, Suha, Kjaer, Susanne K, Menon, Usha, Brenton, James D, Pharoah, Paul DP, Chenevix-Trench, Georgia, Huntsman, David G, Winham, Stacey J, Köbel, Martin, and Ramus, Susan J

Subjects
Ovarian Tumor Tissue Analysis (OTTA) Consortium, Lymphocytes, Tumor-Infiltrating, Humans, Cystadenocarcinoma, Serous, Ovarian Neoplasms, BRCA2 Protein, Treatment Outcome, Survival Analysis, Cohort Studies, Prospective Studies, Mutation, Middle Aged, Female, Neoplasm Grading, CD8 Antigens, Carcinoma, Ovarian Epithelial, Lymphocytes, Tumor-Infiltrating, Cystadenocarcinoma, Serous, Carcinoma, Ovarian Epithelial, Cancer, Prevention, Ovarian Cancer, Rare Diseases, Vaccine Related, Clinical Research, Oncology and Carcinogenesis, Public Health and Health Services
Abstract

ImportanceCytotoxic CD8+ tumor-infiltrating lymphocytes (TILs) participate in immune control of epithelial ovarian cancer; however, little is known about prognostic patterns of CD8+ TILs by histotype and in relation to other clinical factors.ObjectiveTo define the prognostic role of CD8+ TILs in epithelial ovarian cancer.Design, setting, and participantsThis was a multicenter observational, prospective survival cohort study of the Ovarian Tumor Tissue Analysis Consortium. More than 5500 patients, including 3196 with high-grade serous ovarian carcinomas (HGSOCs), were followed prospectively for over 24 650 person-years.ExposuresFollowing immunohistochemical analysis, CD8+ TILs were identified within the epithelial components of tumor islets. Patients were grouped based on the estimated number of CD8+ TILs per high-powered field: negative (none), low (1-2), moderate (3-19), and high (≥20). CD8+ TILs in a subset of patients were also assessed in a quantitative, uncategorized manner, and the functional form of associations with survival was assessed using penalized B-splines.Main outcomes and measuresOverall survival time.ResultsThe final sample included 5577 women; mean age at diagnosis was 58.4 years (median, 58.2 years). Among the 5 major invasive histotypes, HGSOCs showed the most infiltration. CD8+ TILs in HGSOCs were significantly associated with longer overall survival; median survival was 2.8 years for patients with no CD8+ TILs and 3.0 years, 3.8 years, and 5.1 years for patients with low, moderate, or high levels of CD8+ TILs, respectively (P value for trend = 4.2 × 10−16). A survival benefit was also observed among women with endometrioid and mucinous carcinomas, but not for those with the other histotypes. Among HGSOCs, CD8+ TILs were favorable regardless of extent of residual disease following cytoreduction, known standard treatment, and germline BRCA1 pathogenic mutation, but were not prognostic for BRCA2 mutation carriers. Evaluation of uncategorized CD8+ TIL counts showed a near-log-linear functional form.Conclusions and relevanceThis study demonstrates the histotype-specific nature of immune infiltration and provides definitive evidence for a dose-response relationship between CD8+ TILs and HGSOC survival. That the extent of infiltration is prognostic, not merely its presence or absence, suggests that understanding factors that drive infiltration will be the key to unraveling outcome heterogeneity in this cancer.

Published
2017

5. Deletion at 6q24.2–26 predicts longer survival of high-grade serous epithelial ovarian cancer patients

Author

Kamieniak, Marta M., Rico, Daniel, Milne, Roger L., Muñoz-Repeto, Ivan, Ibáñez, Kristina, Grillo, Miguel A., Domingo, Samuel, Borrego, Salud, Cazorla, Alicia, García-Bueno, José M., Hernando, Susana, García-Donas, Jesús, Hernández-Agudo, Elena, Ramón y Cajal, Teresa, Robles-Díaz, Luis, Márquez-Rodas, Ivan, Cusidó, Maite, Sáez, Raquel, Lacambra-Calvet, Carmen, Osorio, Ana, Urioste, Miguel, Cigudosa, Juan C., Paz-Ares, Luis, Palacios, José, Benítez, Javier, and García, María J.

Published
2015
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8. Clinical and pathological associations of PTEN expression in ovarian cancer:a multicentre study from the Ovarian Tumour Tissue Analysis Consortium

Author

Martins, Filipe Correia, Couturier, Dominique-laurent, Paterson, Anna, Karnezis, Anthony N., Chow, Christine, Nazeran, Tayyebeh M., Odunsi, Adekunle, Gentry-maharaj, Aleksandra, Vrvilo, Aleksandra, Hein, Alexander, Talhouk, Aline, Osorio, Ana, Hartkopf, Andreas D., Brooks-wilson, Angela, Defazio, Anna, Fischer, Anna, Hartmann, Arndt, Hernandez, Brenda Y., Mccauley, Bryan M., Karpinskyj, Chloe, De Sousa, Christiani B., Høgdall, Claus, Tiezzi, Daniel G., Herpel, Esther, Taran, Florin Andrei, Modugno, Francesmary, Keeney, Gary, Nelson, Gregg, Steed, Helen, Song, Honglin, Luk, Hugh, Benitez, Javier, Alsop, Jennifer, Koziak, Jennifer M., Lester, Jenny, Rothstein, Joseph H., De Andrade, Jurandyr M., Lundvall, Lene, Paz-ares, Luis, Robles-díaz, Luis, Wilkens, Lynne R., Garcia, Maria J., Intermaggio, Maria P., Alcaraz, Marie-lyne, Brett, Mary A., Beckmann, Matthias W., Jimenez-linan, Mercedes, Anglesio, Michael, Carney, Michael E., Schneider, Michael, Traficante, Nadia, Pejovic, Nadja, Singh, Naveena, Le, Nhu, Sinn, Peter, Ghatage, Prafull, Erber, Ramona, Edwards, Robert, Vierkant, Robert, Ness, Roberta B., Leung, Samuel, Orsulic, Sandra, Brucker, Sara Y., Kaufmann, Scott H., Fereday, Sian, Gayther, Simon, Winham, Stacey J., Kommoss, Stefan, Pejovic, Tanja, Longacre, Teri A., Mcguire, Valerie, Rhenius, Valerie, Sieh, Weiva, Shvetsov, Yurii B., Whittemore, Alice S., Staebler, Annette, Karlan, Beth Y., Rodriguez-antona, Cristina, Bowtell, David D., Goode, Ellen L., Høgdall, Estrid, Candido Dos Reis, Francisco J., Gronwald, Jacek, Chang-claude, Jenny, Moysich, Kirsten B., Kelemen, Linda E., Cook, Linda S., Goodman, Marc T., Fasching, Peter A., Crawford, Robin, Deen, Suha, Menon, Usha, Huntsman, David G., Köbel, Martin, Ramus, Susan J., Pharoah, Paul D. P., Brenton, James D., Martins, Filipe Correia, Couturier, Dominique-laurent, Paterson, Anna, Karnezis, Anthony N., Chow, Christine, Nazeran, Tayyebeh M., Odunsi, Adekunle, Gentry-maharaj, Aleksandra, Vrvilo, Aleksandra, Hein, Alexander, Talhouk, Aline, Osorio, Ana, Hartkopf, Andreas D., Brooks-wilson, Angela, Defazio, Anna, Fischer, Anna, Hartmann, Arndt, Hernandez, Brenda Y., Mccauley, Bryan M., Karpinskyj, Chloe, De Sousa, Christiani B., Høgdall, Claus, Tiezzi, Daniel G., Herpel, Esther, Taran, Florin Andrei, Modugno, Francesmary, Keeney, Gary, Nelson, Gregg, Steed, Helen, Song, Honglin, Luk, Hugh, Benitez, Javier, Alsop, Jennifer, Koziak, Jennifer M., Lester, Jenny, Rothstein, Joseph H., De Andrade, Jurandyr M., Lundvall, Lene, Paz-ares, Luis, Robles-díaz, Luis, Wilkens, Lynne R., Garcia, Maria J., Intermaggio, Maria P., Alcaraz, Marie-lyne, Brett, Mary A., Beckmann, Matthias W., Jimenez-linan, Mercedes, Anglesio, Michael, Carney, Michael E., Schneider, Michael, Traficante, Nadia, Pejovic, Nadja, Singh, Naveena, Le, Nhu, Sinn, Peter, Ghatage, Prafull, Erber, Ramona, Edwards, Robert, Vierkant, Robert, Ness, Roberta B., Leung, Samuel, Orsulic, Sandra, Brucker, Sara Y., Kaufmann, Scott H., Fereday, Sian, Gayther, Simon, Winham, Stacey J., Kommoss, Stefan, Pejovic, Tanja, Longacre, Teri A., Mcguire, Valerie, Rhenius, Valerie, Sieh, Weiva, Shvetsov, Yurii B., Whittemore, Alice S., Staebler, Annette, Karlan, Beth Y., Rodriguez-antona, Cristina, Bowtell, David D., Goode, Ellen L., Høgdall, Estrid, Candido Dos Reis, Francisco J., Gronwald, Jacek, Chang-claude, Jenny, Moysich, Kirsten B., Kelemen, Linda E., Cook, Linda S., Goodman, Marc T., Fasching, Peter A., Crawford, Robin, Deen, Suha, Menon, Usha, Huntsman, David G., Köbel, Martin, Ramus, Susan J., Pharoah, Paul D. P., and Brenton, James D.

Published
2020

10. CD133 Expression in Medullary Thyroid Cancer Cells Identifies Patients with Poor Prognosis

Author

Cordero-Barreal, Alfonso, primary, Caleiras, Eduardo, additional, López de Maturana, Evangelina, additional, Monteagudo, María, additional, Martínez-Montes, Ángel M, additional, Letón, Rocío, additional, Gil, Eduardo, additional, Álvarez-Escolá, Cristina, additional, Regojo, Rita M, additional, Andía, Víctor, additional, Marazuela, Mónica, additional, Guadalix, Sonsoles, additional, Calatayud, María, additional, Robles-Díaz, Luis, additional, Aguirre, Miguel, additional, Cano, Juana M, additional, Díaz, José Ángel, additional, Saavedra, Pilar, additional, Lamas, Cristina, additional, Azriel, Sharona, additional, Sastre, Julia, additional, Aller, Javier, additional, Leandro-García, Luis J, additional, Calsina, Bruna, additional, Roldán-Romero, Juan María, additional, Santos, María, additional, Lanillos, Javier, additional, Cascón, Alberto, additional, Rodríguez-Antona, Cristina, additional, Robledo, Mercedes, additional, and Montero-Conde, Cristina, additional

Published
2020
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11. Tumores ginecológicos en pacientes portadoras de mutación BRCA1 y BRCA2

Author

Oliver Pérez, Reyes, primary, de Miguel Reyes, Montserrat, additional, Robles Díaz, Luis, additional, Vivares López, Almudena, additional, Baeza Hernández, Gloria, additional, Ferrández, Consuelo Sanz, additional, Arroyo Vozmediano, M. Luisa, additional, Gallego Álvarez, Marta, additional, Blanco Guerrero, Marta, additional, García Chapinal, Beatriz, additional, Hernández Muñoz, Irene, additional, and Aragón Sánchez, Sofía, additional

Published
2020
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12. The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients

Author

Gayarre, Javier, primary, Kamieniak, Marta M., additional, Cazorla-Jiménez, Alicia, additional, Muñoz-Repeto, Ivan, additional, Borrego, Salud, additional, García-Donas, Jesús, additional, Hernando, Susana, additional, Robles-Díaz, Luis, additional, García-Bueno, José M., additional, Ramón y Cajal, Teresa, additional, Hernández-Agudo, Elena, additional, Heredia Soto, Victoria, additional, Márquez-Rodas, Ivan, additional, Echarri, María José, additional, Lacambra-Calvet, Carmen, additional, Sáez, Raquel, additional, Cusidó, Maite, additional, Redondo, Andrés, additional, Paz-Ares, Luis, additional, Hardisson, David, additional, Mendiola, Marta, additional, Palacios, José, additional, Benítez, Javier, additional, and García, María José, additional

Published
2016
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13. The CIRCULATE Spain study: Circulating tumor DNA based decision for adjuvant treatment in localized colon cancer.

Author

Tarazona, Noelia, Carbonell-Asins, Juan Antonio, Safont, Maria Jose, Elez, Elena, Tabernero, Josep, Santos, Cristina, Vidal Barrull, Joana, Robles Díaz, Luis, Gravalos, Cristina, Gil Raga, Mireia, Martínez Villacampa, Mercedes, Gomez-España, Maria Auxilidora, Martín-Arana, Jorge, Olivares Ordóñez, Laura, Rentero-Garrido, Pilar, Aranda, Enrique, Montagut, Clara O, and Cervantes, Andres

Published
2023
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14. Analysis of and Fanconi Anemia genes in -negative Spanish breast cancer families

Author

García, María J., Fernández, Victoria, Osorio, Ana, Barroso, Alicia, LLort, Gemma, Lázaro, Conxi, Blanco, Ignacio, Caldés, Trinidad, Hoya, Miguel, Ramón Y Cajal, Teresa, Alonso, Carmen, Tejada, María-Isabel, San Román, Carlos, Robles-Díaz, Luis, Urioste, Miguel, Benítez, Javier, Group of Human Genetics, Spanish National Cancer Research Center (CNIO), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III [Madrid] (ISC), Genetic Counseling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology (ICO), Translational Research Laboratory, Laboratory of Molecular Oncology, San Carlos University Hospital, Service of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Molecular Genetics Laboratory, Cruces Hospital, Genetics Department, Hospital Universitario Ramón y Cajal [Madrid], Universidad de Alcalá - University of Alcalá (UAH)-Universidad de Alcalá - University of Alcalá (UAH), Oncology Department, and Doce de Octubre Hospital

Subjects
tumor, Fanconi Anemia, Genotypic–phenotypic correlation, Hereditary breast cancer
Abstract

International audience; Recent reports have shown that mutations in the and Fanconi Anemia (FA) genes confer a moderate breast cancer risk. Discussion has been raised on the phenotypic characteristics of the associated families and tumors. The role of in breast cancer susceptibility has not been tested to date. Likewise mutation frequency has not been studied in Spanish population. We analyzed the complete coding sequence and splicing sites of and in 95 index cases of -negative Spanish breast cancer families. We also performed an exhaustive screening of three previously described rare but recurrent mutations in 725 additional probands. Pathogenic changes were not detected in . We found a novel truncating mutation c.1056_1057delGA (p.K353IfsX7) in one of the 95 screened patients, accounting for a mutation frequency of 1% in our series. Further comprehensive screening of the novel mutation and of previously reported rare but recurrent mutations did not reveal any carrier patient. We report the first example of LOH occurring in a -associated tumor. Our results rule out a major contribution of to hereditary breast cancer. Our data are consistent with the notion of individually rare mutations, lack of mutational hot-spots in the gene and existence of between-population disease-allele heterogeneity. We show evidence that loss of function might also conform to the inactivation model of a classic tumor-suppressor gene and present data that adds to the clinically relevant discussion about the existence of a -breast cancer phenotype.

Published
2008

15. Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian cancer patients

Author

Kamieniak, Marta M., primary, Rico, Daniel, additional, Milne, Roger L., additional, Muñoz-Repeto, Ivan, additional, Ibáñez, Kristina, additional, Grillo, Miguel A., additional, Domingo, Samuel, additional, Borrego, Salud, additional, Cazorla, Alicia, additional, García-Bueno, José M., additional, Hernando, Susana, additional, García-Donas, Jesús, additional, Hernández-Agudo, Elena, additional, y Cajal, Teresa Ramón, additional, Robles-Díaz, Luis, additional, Márquez-Rodas, Ivan, additional, Cusidó, Maite, additional, Sáez, Raquel, additional, Lacambra-Calvet, Carmen, additional, Osorio, Ana, additional, Urioste, Miguel, additional, Cigudosa, Juan C., additional, Paz-Ares, Luis, additional, Palacios, José, additional, Benítez, Javier, additional, and García, María J., additional

Published
2014
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17. Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

Author

García, María J., primary, Fernández, Victoria, additional, Osorio, Ana, additional, Barroso, Alicia, additional, LLort, Gemma, additional, Lázaro, Conxi, additional, Blanco, Ignacio, additional, Caldés, Trinidad, additional, de la Hoya, Miguel, additional, Ramón y Cajal, Teresa, additional, Alonso, Carmen, additional, Tejada, María-Isabel, additional, San Román, Carlos, additional, Robles-Díaz, Luis, additional, Urioste, Miguel, additional, and Benítez, Javier, additional

Published
2008
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