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8 results on '"Jaworska-Bieniek K"'

1. Meeting abstracts from the Annual Conference on Hereditary Cancers 2016

Author

Cybulski, C., Kluźniak, W., Huzarski, T., Wokołorczyk, D., Kashyap, A., Jakubowska, A., Szwiec, M., Byrski, T., Dębniak, T., Górski, B., Sopik, V., Akbari, M. R., Sun, P., Gronwald, J., Narod, S. A., Lubiński, J., Dymerska, D., Kurzawski, G., Tutlewska, K., Kuswik, M., Rudnicka, H., Scott, R. J., Billings, R., Pławski, A., Lubinski, J., Gromowski, T., Kąklewski, K., Marciniak, W., Durda, K., Lener, M., Sukiennicki, G., Kaczmarek, K., Jaworska-Bieniek, K., Paszkowska-Szczur, K., Waloszczyk, P., Hemminki, K., Försti, A., Oszurek, O., Gugała, K., Stawicka, M., Morawiec, Z., Mierzwa, T., Falco, M., Janiszewska, H., Kilar, E., Marczyk, E., Kozak-Klonowska, B., Siołek, M., Surdyka, D., Wiśniowski, R., Posmyk, M., Domagała, P., Imyanitov, E. N., Muszyńska, M., Prajzendanc, K., Peruga, N., Morawski, A., Lener, M. R., Baszuk, P., Wiechowska-Kozłowska, A., Kładny, J., Pietrzak, S., Soluch, A., Plawski, A., Rashid, U. R., Naeemi, H., Muhammad, N., Loya, A., Yusuf, M. A., Savanevich, A., Aszurek, O., Mathe, A., Wong-Brown, M., Locke, W., Stirzaker, C., Braye, S. G., Forbes, J. F., Clark, S., Avery-Kiejda, K., Tomiczek-Szwiec, J., Jakubowicz, J., Sibilski, R., and Posmyk, R.

Subjects
Meeting Abstracts
Published
2017

2. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Author

Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., Fasching, P.A., Figueroa, J.D., Flyger, H., Friedlander, M., Friedman, E., Gambino, G., Gao, Y.T., Garber, J., Garcia-Closas, M., Gehrig, A., Damiola, F., Lesueur, F., Mazoyer, S., Stoppa-Lyonnet, D., Giles, G.G., Godwin, A.K., Goldgar, D.E., González-Neira, A., Greene, M.H., Guenel, P., Haeberle, L., Haiman, C.A., Hallberg, E., Hamann, U., Hansen, T.V.O., Hart, S., Hartikainen, J.M., Hartman, M., Hassan, N., Healey, S., Hogervorst, F.B.L., Verhoef, S., Hendricks, C.B., Hillemanns, P., Hollestelle, A., Hulick, P.J., Hunter, D.J., Imyanitov, E.N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U.B., John, E.M., Beauparlant, C.J., Jones, M., Kabisch, M., Kang, D., Karlan, B.Y., Kauppila, S., Kerin, M.J., Khan, S., Khusnutdinova, E., Knight, J.A., Konstantopoulou, I., Kraft, P., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Le Marchand, L., Lee, C.N., Lee, M.H., Lester, J., Li, J., Liljegren, A., Lindblom, A., Lophatananon, A., Lubinski, J., Mai, P.L., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McGuffog, L., Meindl, A., Menegaux, F., Montagna, M., Muir, K., Mulligan, A.M., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Newcomb, P.A., Nord, S., Nussbaum, R.L., Offit, K., Olah, E., Olopade, O.I., Olswold, C., Osorio, A., Papi, L., Park-Simon, T.W., Paulsson-Karlsson. Y., Peeters, S., Peissel, B., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C.M., Presneau, Nadège, Presneau, N., Radice, P., Rahman, N., Ramus, S.J., Rashid, M.U., Rennert, G., Rhiem, K., Rudolph, A., Salani, R., Sangrajrang, S., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schoemaker, M.J., Schürmann, P., Seynaeve, C., Shen, C.Y., Shrubsole, M.J., Shu, X.O., Sigurdson, A., Singer, C.F., Slager, S., Soucy, P., Southey, M., Steinemann, D., Swerdlow, A., Szabo, C.I., Tchatchou, S., Teixeira, M.R., Teo, S.H., Terry, M.B., Tessier, D.C., Teulé, A., Thomassen, M., Tihomirova, L., Tischkowitz, M., Toland, A.E., Tung, N., Turnbull, C., van den Ouweland, A.M., van Rensburg, E.J., Ven den Berg, D., Vijai, J., Wang-Gohrke, S., Weitzel, J.N., Whittemore, A.S., Winqvist, R., Wong, T.Y., Wu, A.H., Yannoukakos, D., Yu, J.C., Pharoah, P.D., Hall, P., Chenevix-Trench, G., Dunning, A.M., Simard, J., Couch, F.J., Antoniou, A.C., Easton, D.F., Zheng, W., Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., Fasching, P.A., Figueroa, J.D., Flyger, H., Friedlander, M., Friedman, E., Gambino, G., Gao, Y.T., Garber, J., Garcia-Closas, M., Gehrig, A., Damiola, F., Lesueur, F., Mazoyer, S., Stoppa-Lyonnet, D., Giles, G.G., Godwin, A.K., Goldgar, D.E., González-Neira, A., Greene, M.H., Guenel, P., Haeberle, L., Haiman, C.A., Hallberg, E., Hamann, U., Hansen, T.V.O., Hart, S., Hartikainen, J.M., Hartman, M., Hassan, N., Healey, S., Hogervorst, F.B.L., Verhoef, S., Hendricks, C.B., Hillemanns, P., Hollestelle, A., Hulick, P.J., Hunter, D.J., Imyanitov, E.N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U.B., John, E.M., Beauparlant, C.J., Jones, M., Kabisch, M., Kang, D., Karlan, B.Y., Kauppila, S., Kerin, M.J., Khan, S., Khusnutdinova, E., Knight, J.A., Konstantopoulou, I., Kraft, P., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Le Marchand, L., Lee, C.N., Lee, M.H., Lester, J., Li, J., Liljegren, A., Lindblom, A., Lophatananon, A., Lubinski, J., Mai, P.L., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McGuffog, L., Meindl, A., Menegaux, F., Montagna, M., Muir, K., Mulligan, A.M., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Newcomb, P.A., Nord, S., Nussbaum, R.L., Offit, K., Olah, E., Olopade, O.I., Olswold, C., Osorio, A., Papi, L., Park-Simon, T.W., Paulsson-Karlsson. Y., Peeters, S., Peissel, B., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C.M., Presneau, Nadège, Presneau, N., Radice, P., Rahman, N., Ramus, S.J., Rashid, M.U., Rennert, G., Rhiem, K., Rudolph, A., Salani, R., Sangrajrang, S., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schoemaker, M.J., Schürmann, P., Seynaeve, C., Shen, C.Y., Shrubsole, M.J., Shu, X.O., Sigurdson, A., Singer, C.F., Slager, S., Soucy, P., Southey, M., Steinemann, D., Swerdlow, A., Szabo, C.I., Tchatchou, S., Teixeira, M.R., Teo, S.H., Terry, M.B., Tessier, D.C., Teulé, A., Thomassen, M., Tihomirova, L., Tischkowitz, M., Toland, A.E., Tung, N., Turnbull, C., van den Ouweland, A.M., van Rensburg, E.J., Ven den Berg, D., Vijai, J., Wang-Gohrke, S., Weitzel, J.N., Whittemore, A.S., Winqvist, R., Wong, T.Y., Wu, A.H., Yannoukakos, D., Yu, J.C., Pharoah, P.D., Hall, P., Chenevix-Trench, G., Dunning, A.M., Simard, J., Couch, F.J., Antoniou, A.C., Easton, D.F., and Zheng, W.

Abstract

BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. RESULTS: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. CONCLUSION: This

Published
2016

3. Refined histopathological predictors of BRCA1\ud and BRCA2 mutation status: a large-scale analysis\ud of breast cancer characteristics from the BCAC,\ud CIMBA, and ENIGMA consortia

Author

Spurdle, A.B., Couch, F.J., Parsons, M.T., McGuffog, L., Barrowdale, D., Bolla, M.K., Wang, Q., Healey, S., Schmutzler, R.K., Wappenschmidt, B., Rhiem, K., Hahnen, E., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Ellis, S., Frost, D., Platte, R., Perkins, J., Evans, D.G., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Scuvera, G., Manoukian, S., Bonanni, B., Mariette, F., Fortuzzi, S., Viel, A., Pasini, B., Papi, L., Varesco, L., Balleine, R., Nathanson, K.L., Domchek, S.M., Offitt, K., Jakubowska, A., Lindor, N., Thomassen, M., Jensen, U.B., Rantala, J., Borg, A., Andrulis, I.L., Miron, A., Hansen, T.V.O., Caldes, T., Neuhausen, S.L., Toland, A.E., Nevanlinna, H., Montagna, M., Garber, J., Godwin, A.K., Osorio, A., Factor, R.E., Terry, M.B., Rebbeck, T.R., Karlan, B.Y., Southey, M., Rashid, M.U., Tung, N., Pharoah, P.D.P., Blows, F.M., Dunning, A.M., Provenzano, E., Hall, P., Czene, K., Schmidt, M.K., Broeks, A., Cornelissen, S., Verhoef, S., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Slamon, D.J., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Seibold, P., Aittomaki, K., Muranen, T.A., Heikkila, P., Blomqvist, C., Figueroa, J., Chanock, S.J., Brinton, L., Lissowska, J., Olson, J.E., Pankratz, V.S., John, E.M., Whittemore, A.S., West, D.W., Hamann, U., Torres, D., Ulmer, H.U., Rudiger, T., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Van Asperen, C.J., Eccles, D.M., Tapper, W.J., Durcan, L., Jones, L., Peto, J., dos-Santos-Silva, I., Fletcher, O., Johnson, N., Dwek, M., Swann, R., Bane, A.L., Glendon, G., Mulligan, A.M., Giles, G.G., Milne, R.L., Baglietto, L., McLean, C., Carpenter, J., Clarke, C., Scott, R., Brauch, H., Bruning, T., Ko, Y-D., Cox, A., Cross, S.S., Reed, M.W.R., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Gronwald, J., Dork, T., Bogdanova, N., Park-Simon, T-W., Hillemanns, P., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Burwinkel, B., Marme, F., Surovy, H., Yang, R., Anton-Culver, H., Ziogas, A., Hooning, M.J., Collee, J.M., Martens, J.W.M., Tilanus-Linthorst, M.M.A., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Lindblom, A., Margolin, S., Joseph, V., Robson, M., Rau-Murthy, R., Gonzalez-Neira, A., Arias, J.I., Zamora, P., Benitez, J., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J.M., Peterlongo, P., Zaffaroni, D., Barile, M., Capra, F., Radice, P., Teo, S.H., Easton, D.F., Antoniou, A.C., Chenevix-Trench, G., Goldgar, D.E., Investigators, ABCTB, Group, EMBRACE, Network, GENICA, Group, HEBON, and Investigators, KConFab

Subjects
endocrine system diseases, skin and connective tissue diseases
Abstract

Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline\ud mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have\ud utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of\ud uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of\ud Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological\ud predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical\ud modeling.\ud Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for\ud invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565\ud BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of\ud mutation status by histopathological markers were derived using a Mantel-Haenszel approach.\ud Results: ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to\ud 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years\ud or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3\ud phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3\ud features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor\ud status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and\ud 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years\ud or older (LR = 1.79 (1.42 to 2.24)).\ud Conclusions: These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using\ud commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is\ud more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2\ud variant classification and inform patient mutation testing and clinical management.

Published
2014

4. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Author

Rebbeck, TR, Friebel, TM, Mitra, N, Wan, F, Chen, S, Andrulis, IL, Apostolou, P, Arnold, N, Arun, BK, Barrowdale, D, Benitez, J, Berger, R, Berthet, P, Borg, A, Buys, SS, Caldes, T, Carter, J, Chiquette, J, Claes, KBM, Couch, FJ, Cybulski, C, Daly, MB, De La Hoya, M, Diez, O, Domchek, SM, Nathanson, KL, Durda, K, Ellis, S, EMBRACE, Evans, DG, Foretova, L, Friedman, E, Frost, D, Ganz, PA, Garber, J, Glendon, G, Godwin, AK, Greene, MH, Gronwald, J, Hahnen, E, Hallberg, E, Hamann, U, Hansen, TVO, HEBON, Imyanitov, EN, Isaacs, C, Jakubowska, A, Janavicius, R, Jaworska-Bieniek, K, John, EM, Karlan, BY, Kaufman, B, Investigators, K, Kwong, A, Laitman, Y, Lasset, C, Lazaro, C, Lester, J, Loman, N, Lubinski, J, Manoukian, S, Mitchell, G, Montagna, M, Neuhausen, SL, Nevanlinna, H, Niederacher, D, Nussbaum, RL, Offit, K, Olah, E, Olopade, OI, Park, SK, Piedmonte, M, Radice, P, Rappaport-Fuerhauser, C, Rookus, MA, Seynaeve, C, Simard, J, Singer, CF, Soucy, P, Southey, M, Stoppa-Lyonnet, D, Sukiennicki, G, Szabo, CI, Tancredi, M, Teixeira, MR, Teo, S-H, Terry, MB, Thomassen, M, Tihomirova, L, Tischkowitz, M, Toland, AE, Toloczko-Grabarek, A, Tung, N, Van Rensburg, EJ, Villano, D, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, JN, Zidan, J, Zorn, KK, McGuffog, L, Easton, D, Chenevix-Trench, G, Antoniou, AC, and Ramus, SJ

Subjects
skin and connective tissue diseases, BRCA1, hereditary breast and ovarian cancer, BRCA2, transheterozygosity, 3. Good health
Abstract

Background: Most $\textit{BRCA1}$ or $\textit{BRCA2}$ mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both $\textit{BRCA1}$ and $\textit{BRCA2}$ are rare, and the consequences of transheterozygosity are poorly understood. Methods: From 32,295 female $\textit{BRCA1/2}$ mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at $\textit{BRCA1}$ (SH1) or $\textit{BRCA2}$ (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results: The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; $p$ = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 ($p$ = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 ($p$ = 0.231), but was on average 4.5 years younger in TH than in SH2 ($p$ < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive ($p$ = 0.010) or progesterone receptor (PR) positive ($p$ = 0.013) than in SH1, but less likely to be ER positive ($p$ < 0.001) or PR positive ($p$ = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for $\textit{BRCA1}$ or $\textit{BRCA2}$ in either BC or OC. Conclusions: Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.

5. Polymorphisms in MMP-1 , MMP-2 , MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population.

Author

Białkowska K, Marciniak W, Muszyńska M, Baszuk P, Gupta S, Jaworska-Bieniek K, Sukiennicki G, Durda K, Gromowski T, Lener M, Prajzendanc K, Łukomska A, Cybulski C, Huzarski T, Gronwald J, Dębniak T, Lubiński J, and Jakubowska A

Abstract

Background: Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis. Several single nucleotide polymorphisms (SNPs) in MMPs and MTs that affect genes expression have been associated with cancer risk, including breast, lung and colon., Methods: The study group consisted of 648 unselected patients (299 with breast cancer, 199 with lung cancer, 150 with colon cancer) and 648 unaffected individuals. Five SNPs, rs1799750 in MMP-1, rs243865 in MMP-2, rs11568818 in MMP-7, rs2252070 in MMP-13 and rs28366003 in MT2A were genotyped and serum zinc (Zn) level was measured. The cancer risk was calculated using multivariable logistic regression with respect to Zn., Results: None of the 5 tested polymorphisms showed a correlation with cancer risk in studied groups, although for MMP-2 , MMP-7 and MT2A non-significant differences in genotypes frequencies among cases and controls were observed., Conclusions: Analyses of polymorphisms, rs1799750 in MMP-1 , rs243865 in MMP-2 , rs11568818 in MMP-7 , rs2252070 in MMP-13 and rs28366003 in MT2A in relation to serum Zn level did not show significant association with breast, lung and colon cancer risk among polish patients. Further studies are needed to verify this observation., Competing Interests: Competing interestsJL is CEO of Read-Gene S.A. The authors WM, MM are employees of Read-Gene S.A. KB, PB, SG, KJB, GS, KD, TG, ML, KP, AŁ, CC, TH, JG, TD, AJ declare that they have no competing interests., (© The Author(s) 2020.)

Published
2020
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6. Serum selenium level and cancer risk: a nested case-control study.

Author

Narod SA, Huzarski T, Jakubowska A, Gronwald J, Cybulski C, Oszurek O, Dębniak T, Jaworska-Bieniek K, Lener M, Białkowska K, Sukiennicki G, Muszyńska M, Marciniak W, Sun P, Kotsopoulos J, and Lubiński J

Abstract

Background: Epidemiologic studies have demonstrated a relationship between selenium status and cancer risk among those with low selenium levels. It is of interest to prospectively evaluate the relationship between selenium and cancer among women who reside in a region with ubiquitously low selenium levels., Methods: We performed a nested case-control study of baseline serum selenium levels and cancer risk using data and biological samples from 19,573 females that were participants in a biobanking initiative between 2010 and 2014 in Szczecin Poland. Cases included women with any incident cancer ( n  = 97) and controls ( n  = 184) were women with no cancer at baseline or follow-up. Serum selenium was quantified using mass spectroscopy., Results: The odds ratio associated being below the cutoff of 70.0 μg/L compared to a level above 70.0 μg/L was 2.29 (95% CI 1.26-4.19; P  = 0.007). The risks for women in the two middle categories were similar and suggests that the normal range be between 70 μg/L and 90 μg/L. There was evidence for an increased risk of cancer among women in the highest category of selenium levels (i.e., > 90 μg/L), but this association did not achieve statistical significance (OR = 1.63; 95%CI 0.63-4.19; P  = 0.31)., Conclusions: Results from this study suggest that suggest that the optimum serum level of selenium in women living in Poland should be between 70 μg/L and 90 μg/L., Competing Interests: Competing interestsJan Lubinski is CEO of Readgene which is a distributor of selenium supplements and offers measurement of selenium level. These authors are part-time employees of Readgene: TH, AJ, JG, CC, TD, KJB, MM, WM,KB) The lead author (SN) declares no conflict of interest. Joanne Kotsopoulos is the recipient of a Cancer Care Ontario Research Chair in Population Studies and a Canadian Cancer Society Career Development Award in Prevention. Steven Narod is the recipient of a Canada Research Chair tier I., (© The Author(s). 2019.)

Published
2019
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7. BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population.

Author

Ławniczak M, Jakubowska A, Białek A, Lubiński J, Jaworska-Bieniek K, Kaczmarek K, and Starzyńska T

Abstract

Background: Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and BRCA2 mutation carriers are based almost exclusively on indirect studies. The objective was to assess in a direct study whether there is a relationship between GC and selected recurrent BRCA1 and BRCA2 mutations in the Polish population., Methods: Three hundred seventeen GC patients (193 males and 124 females; mean age 59.5 ± 12.8 y) diagnosed at the Department of Gastroenterology at the Pomeranian Medical University were included in this retrospective study. All patients were genotyped for 3 BRCA1 Polish founder mutations (5382insC, C61G and 4153delA) as well as for 9 known recurrent mutations in BRCA1 and BRCA2 genes. Genotyping was performed using allele-specific oligonucleotide polymerase chain reaction (ASA-PCR) for 4153delA and 5382insC, restriction fragment length polymorphism (PCR-RFLP) for C61G and TaqMan real-time PCR for 185delAG, 3819del5, 3875del4, 5370C > T, 886delGT, 4075delGT, 5467insT, 6174delT and 8138del5., Results: Among tested mutations one founder BRCA1 mutation 5382insC was detected in two of 317 (0.63 %) GC cases. A comparison of frequency of detected BRCA1 founder mutations in GC patients to previously described 4570 Polish controls (0.63 % vs. 0.48 %) failed to indicate an increased risk of GC in the mutation carriers (OR = 1.3; 95 % CI 0.3-5.6, p = 0.71). A comparison of frequency of GC male cases and male controls (1.0 % vs. 0.43 %,OR = 1.5; 95 % CI 0.3-6.4, p = 0.61) allowed to formulate the same conclusion that there is no increased risk for GC for males. None of the 9 recurrent BRCA1 and BRCA2 mutations has been detected in tested GC patients., Conclusion: The current study indicates that founder BRCA1 mutations reported in Polish breast/ovarian cancer patients do not contribute to increased GC risk. The nine tested recurrent BRCA1 and BRCA2 mutations were not detected in GC patients which may suggests that they are rare in GC patients in the Polish population. Further analyses, including sequencing of entire sequences of BRCA1 and BRCA2 genes, are necessary to ultimately determine the role of these two genes in GC in Poland.

Published
2016
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8. Can selenium levels act as a marker of colorectal cancer risk?

Author

Lener MR, Gupta S, Scott RJ, Tootsi M, Kulp M, Tammesoo ML, Viitak A, Metspalu A, Serrano-Fernández P, Kładny J, Jaworska-Bieniek K, Durda K, Muszyńska M, Sukiennicki G, Jakubowska A, and Lubiński J

Subjects
Adult, Aged, Aged, 80 and over, Case-Control Studies, Estonia, Humans, Middle Aged, Odds Ratio, Poland, Risk Factors, Biomarkers, Tumor blood, Colorectal Neoplasms blood, Selenium blood
Abstract

Background: Selenium has attracted attention because of its antioxidant properties. Antioxidants protects cells from damage. Certain breakdown products of selenium are believed to prevent tumor growth by enhancing the immune cell activity and suppressing the development of tumor blood vessels. In this observational study, selenium level was measured in a series of patients from Poland and Estonia to determine a correlation between levels of this microelement and colorectal cancer risk., Methods: A total of 169 colorectal cancer patients and 169 healthy controls were enrolled in the study after obtaining their informed consent. Selenium level in the blood serum was measured using Graphite Furnace Atomic Absorption Spectrometry (GFAAS). The statistical analysis was performed by Fisher's exact test., Results: The threshold point of selenium level was 55 μg/l and 65 μg/l for Poland and Estonia respectively, for an increase in cancer risk. The lower levels of selenium were associated with greater risk of colorectal cancer., Conclusions: The result reveals a significant strong association between low selenium level and the colorectal cancer risk in both Estonian and Polish populations.

Published
2013
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