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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. / Southey, Melissa C; Goldgar, David E; Winqvist, Robert; Pylkäs, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William D; Dennis, Joe; Michailidou, Kyriaki; van Rensburg, Elizabeth J; Heikkinen, Tuomas; Nevanlinna, Heli; Hopper, John L; Dörk, Thilo; Claes, Kathleen Bm; Reis-Filho, Jorge S; Teo, Zhi Ling; Radice, Paolo; Catucci, Irene; Peterlongo, Paolo; Tsimiklis, Helen; Odefrey, Fabrice A; Dowty, James G; Schmidt, Marjanka K; Broeks, Annegien; Hogervorst, Frans B L; Verhoef, Senno; Carpenter, Jane E; Clarke, Christine L; Scott, Rodney J; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federik; Burwinkel, Barbara; Yang, Rongxi; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig E; Nielsen, Sune F; Flyger, Henrik; Benitez, Javier; Zamora, M Pilar; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Anton-Culver, Hoda; Neuhausen, Susan L; Ziogas, Argyrios; Clarke, Christina A; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Bogdanova, Natalia V; Antonenkova, Natalia; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Spurdle, Amanda B; Investigators, Kconfab; Wauters, Els; Smeets, Dominiek; Beuselinck, Benoit; Floris, Giuseppe; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Olson, Janet E; Vachon, Celine; Pankratz, Vernon S; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Kristensen, Vessela; Alnæs, Grethe Grenaker; Zheng, Wei; Hunter, David J; Lindstrom, Sara; Hankinson, Susan E; Kraft, Peter; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Jukkola-Vuorinen, Arja; Grip, Mervi; Kauppila, Saila; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Hollestelle, Antoinette; Garcia-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Eccles, Diana M; Rafiq, Sajjad; Tapper, William J; Gerty, Sue M; Hooning, Maartje J; Martens, John W M; Collée, J Margriet; Tilanus-Linthorst, Madeleine; Hall, Per; Li, Jingmei; Brand, Judith S; Humphreys, Keith; Cox, Angela; Reed, Malcolm W R; Luccarini, Craig; Baynes, Caroline; Dunning, Alison M; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rüdiger, Thomas; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E; Ambrosone, Christine B; Yannoukakos, Drakoulis; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Simard, Jacques; Dumont, Martine; Soucy, Penny; Eeles, Rosalind; Muir, Kenneth; Wiklund, Fredrik; Gronberg, Henrik; Schleutker, Johanna; Nordestgaard, Børge G; Weischer, Maren; Travis, Ruth C; Neal, David E; Donovan, Jenny L; Hamdy, Freddie C; Khaw, Kay-Tee; Stanford, Janet L; Blot, William J; Thibodeau, Stephen N; Schaid, Daniel J; Kelley, Joseph L; Maier, Christiane; Kibel, Adam S; Cybulski, Cezary; Cannon-Albright, Lisa A; Butterbach, Katja; Park, Jong-Sung; Kaneva, Radka; Batra, Jyotsna; Teixeira, Manuel R; Kote-Jarai, ZSofia; Olama, Ali Amin Al; Benlloch, Sara; Renner, Stefan P; Hartmann, Arndt; Hein, Alexander; Ruebner, Matthias; Lambrechts, Diether; van Nieuwenhuysen, Els; Vergote, Ignace; Lambretchs, Sandrina; Doherty, Jennifer A; Rossing, Mary Anne; Nickels, Stefan; Eilber, Ursula; Wang-Gohrke, Shan; Odunsi, Kunle; Sucheston-Campbell, Lara E; Friel, Grace; Lurie, Galina; Killeen, Jeffrey L; Wilkens, Lynne R; Goodman, Marc T; Runnebaum, Ingo; Hillemanns, Peter A; Pelttari, Liisa M; Butzow, Ralf; Modugno, Francesmary; Edwards, Robert P; Ness, Roberta B; Moysich, Kirsten B; du Bois, Andreas; Heitz, Florian; Harter, Philipp; Kommoss, Stefan; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kjaer, Susanne Krüger; Høgdall, Estrid; Peissel, Bernard; Bonanni, Bernardo; Bernard, Loris; Goode, Ellen L; Fridley, Brooke L; Vierkant, Robert A; Cunningham, Julie M; Larson, Melissa C; Fogarty, Zachary C; Kalli, Kimberly R; Liang, Dong; Lu, Karen H; T Hildebrandt, Michelle A; Wu, Xifeng; Levine, Douglas A; Dao, Fanny; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S; Marks, Jeffrey R; Akushevich, Lucy; Cramer, Daniel W; Schildkraut, Joellen M; Terry, Kathryn L; Poole, Elizabeth M; Stampfer, Meir J; Tworoger, Shelley S; Bandera, Elisa V; Orlow, Irene; Olson, Sara H; Bjorge, Line; Salvesen, Helga B; Altena, Anne Mvan; Aben, Katja K H; Kiemeney, Lambertus A; Massuger, Leon F A G; Pejovic, Tanja; Bean, Yukie T; Brooks-Wilson, Angela; Kelemen, Linda E; Cook, Linda S; Le, Nhu D; Górski, Bohdan; Gronwald, Jacek; Menkiszak, Janusz; Høgdall, Claus K; Lundvall, Lene; Nedergaard, Lotte; Engelholm, Svend Aage; Dicks, Ed; Tyrer, Jonathan; Campbell, Ian; McNeish, Iain; Paul, James; Siddiqui, Nadeem; Glasspool, Rosalind; Whittemore, Alice S; Rothstein, Joseph H; McGuire, Valerie; Sieh, Weiva; Cai, Hui; Shu, Xiao-Ou; Teten, Rachel T; Sutphen, Rebecca; McLaughlin, John R; Narod, Steven A; Phelan, Catherine M; Monteiro, Alvaro N A; Fenstermacher, David; Lin, Hui-Yi; Permuth, Jennifer B; Sellers, Thomas A; Chen, Ann Y; Tsai, Ya-Yu; Chen, Zhihua; Gentry-Maharaj, Aleksandra; Gayther, Simon A; Ramus, Susan J; Menon, Usha; Wu, Anna H; Pearce, Celeste L; van den Berg, David; Pike, Malcolm C; Dansonka-Mieszkowska, Agnieszka; Plisiecka-Halasa, Joanna; Moes-Sosnowska, Joanna; Kupryjanczyk, Jolanta; Pharoah, Paul Dp; Song, Honglin; Winship, Ingrid; Chenevix-Trench, Georgia; Giles, Graham; Tavtigian, Sean V; Easton, Doug F; Milne, Roger L; Australian Ovarian Cancer Study.

In: J MED GENET, Vol. 53, No. 12, 12.2016, p. 800-811.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Southey, MC, Goldgar, DE, Winqvist, R, Pylkäs, K, Couch, F, Tischkowitz, M, Foulkes, WD, Dennis, J, Michailidou, K, van Rensburg, EJ, Heikkinen, T, Nevanlinna, H, Hopper, JL, Dörk, T, Claes, KB, Reis-Filho, JS, Teo, ZL, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, FA, Dowty, JG, Schmidt, MK, Broeks, A, Hogervorst, FBL, Verhoef, S, Carpenter, JE, Clarke, CL, Scott, RJ, Fasching, PA, Haeberle, L, Ekici, AB, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, MK, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, SE, Nielsen, SF, Flyger, H, Benitez, J, Zamora, MP, Perez, JIA, Menéndez, P, Anton-Culver, H, Neuhausen, SL, Ziogas, A, Clarke, CA, Brenner, H, Arndt, V, Stegmaier, C, Brauch, H, Brüning, T, Ko, Y-D, Muranen, TA, Aittomäki, K, Blomqvist, C, Bogdanova, NV, Antonenkova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Spurdle, AB, Investigators, K, Wauters, E, Smeets, D, Beuselinck, B, Floris, G, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Olson, JE, Vachon, C, Pankratz, VS, McLean, C, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Kristensen, V, Alnæs, GG, Zheng, W, Hunter, DJ, Lindstrom, S, Hankinson, SE, Kraft, P, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Jukkola-Vuorinen, A, Grip, M, Kauppila, S, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Hollestelle, A, Garcia-Closas, M, Figueroa, J, Chanock, SJ, Lissowska, J, Czene, K, Darabi, H, Eriksson, M, Eccles, DM, Rafiq, S, Tapper, WJ, Gerty, SM, Hooning, MJ, Martens, JWM, Collée, JM, Tilanus-Linthorst, M, Hall, P, Li, J, Brand, JS, Humphreys, K, Cox, A, Reed, MWR, Luccarini, C, Baynes, C, Dunning, AM, Hamann, U, Torres, D, Ulmer, HU, Rüdiger, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, González-Neira, A, Pita, G, Alonso, MR, Álvarez, N, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Simard, J, Dumont, M, Soucy, P, Eeles, R, Muir, K, Wiklund, F, Gronberg, H, Schleutker, J, Nordestgaard, BG, Weischer, M, Travis, RC, Neal, DE, Donovan, JL, Hamdy, FC, Khaw, K-T, Stanford, JL, Blot, WJ, Thibodeau, SN, Schaid, DJ, Kelley, JL, Maier, C, Kibel, AS, Cybulski, C, Cannon-Albright, LA, Butterbach, K, Park, J-S, Kaneva, R, Batra, J, Teixeira, MR, Kote-Jarai, ZS, Olama, AAA, Benlloch, S, Renner, SP, Hartmann, A, Hein, A, Ruebner, M, Lambrechts, D, van Nieuwenhuysen, E, Vergote, I, Lambretchs, S, Doherty, JA, Rossing, MA, Nickels, S, Eilber, U, Wang-Gohrke, S, Odunsi, K, Sucheston-Campbell, LE, Friel, G, Lurie, G, Killeen, JL, Wilkens, LR, Goodman, MT, Runnebaum, I, Hillemanns, PA, Pelttari, LM, Butzow, R, Modugno, F, Edwards, RP, Ness, RB, Moysich, KB, du Bois, A, Heitz, F, Harter, P, Kommoss, S, Karlan, BY, Walsh, C, Lester, J, Jensen, A, Kjaer, SK, Høgdall, E, Peissel, B, Bonanni, B, Bernard, L, Goode, EL, Fridley, BL, Vierkant, RA, Cunningham, JM, Larson, MC, Fogarty, ZC, Kalli, KR, Liang, D, Lu, KH, T Hildebrandt, MA, Wu, X, Levine, DA, Dao, F, Bisogna, M, Berchuck, A, Iversen, ES, Marks, JR, Akushevich, L, Cramer, DW, Schildkraut, JM, Terry, KL, Poole, EM, Stampfer, MJ, Tworoger, SS, Bandera, EV, Orlow, I, Olson, SH, Bjorge, L, Salvesen, HB, Altena, AM, Aben, KKH, Kiemeney, LA, Massuger, LFAG, Pejovic, T, Bean, YT, Brooks-Wilson, A, Kelemen, LE, Cook, LS, Le, ND, Górski, B, Gronwald, J, Menkiszak, J, Høgdall, CK, Lundvall, L, Nedergaard, L, Engelholm, SA, Dicks, E, Tyrer, J, Campbell, I, McNeish, I, Paul, J, Siddiqui, N, Glasspool, R, Whittemore, AS, Rothstein, JH, McGuire, V, Sieh, W, Cai, H, Shu, X-O, Teten, RT, Sutphen, R, McLaughlin, JR, Narod, SA, Phelan, CM, Monteiro, ANA, Fenstermacher, D, Lin, H-Y, Permuth, JB, Sellers, TA, Chen, AY, Tsai, Y-Y, Chen, Z, Gentry-Maharaj, A, Gayther, SA, Ramus, SJ, Menon, U, Wu, AH, Pearce, CL, van den Berg, D, Pike, MC, Dansonka-Mieszkowska, A, Plisiecka-Halasa, J, Moes-Sosnowska, J, Kupryjanczyk, J, Pharoah, PD, Song, H, Winship, I, Chenevix-Trench, G, Giles, G, Tavtigian, SV, Easton, DF, Milne, RL & Australian Ovarian Cancer Study 2016, 'PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS', J MED GENET, vol. 53, no. 12, pp. 800-811. https://doi.org/10.1136/jmedgenet-2016-103839

APA

Southey, M. C., Goldgar, D. E., Winqvist, R., Pylkäs, K., Couch, F., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J. L., Dörk, T., Claes, K. B., Reis-Filho, J. S., Teo, Z. L., Radice, P., Catucci, I., ... Australian Ovarian Cancer Study (2016). PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J MED GENET, 53(12), 800-811. https://doi.org/10.1136/jmedgenet-2016-103839

Vancouver

Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J MED GENET. 2016 Dec;53(12):800-811. https://doi.org/10.1136/jmedgenet-2016-103839

Bibtex

@article{27dda490fa714350a0062b599b89cfbb,
title = "PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS",
abstract = "BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.RESULTS: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10(-5)), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10(-8)) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.CONCLUSIONS: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.",
keywords = "Journal Article",
author = "Southey, {Melissa C} and Goldgar, {David E} and Robert Winqvist and Katri Pylk{\"a}s and Fergus Couch and Marc Tischkowitz and Foulkes, {William D} and Joe Dennis and Kyriaki Michailidou and {van Rensburg}, {Elizabeth J} and Tuomas Heikkinen and Heli Nevanlinna and Hopper, {John L} and Thilo D{\"o}rk and Claes, {Kathleen Bm} and Reis-Filho, {Jorge S} and Teo, {Zhi Ling} and Paolo Radice and Irene Catucci and Paolo Peterlongo and Helen Tsimiklis and Odefrey, {Fabrice A} and Dowty, {James G} and Schmidt, {Marjanka K} and Annegien Broeks and Hogervorst, {Frans B L} and Senno Verhoef and Carpenter, {Jane E} and Clarke, {Christine L} and Scott, {Rodney J} and Fasching, {Peter A} and Lothar Haeberle and Ekici, {Arif B} and Julian Peto and Isabel Dos-Santos-Silva and Olivia Fletcher and Nichola Johnson and Bolla, {Manjeet K} and Sawyer, {Elinor J} and Ian Tomlinson and Kerin, {Michael J} and Nicola Miller and Federik Marme and Barbara Burwinkel and Rongxi Yang and Pascal Gu{\'e}nel and Th{\'e}r{\`e}se Truong and Florence Menegaux and Marie Sanchez and Bojesen, {Stig E} and Nielsen, {Sune F} and Henrik Flyger and Javier Benitez and Zamora, {M Pilar} and Perez, {Jose Ignacio Arias} and Primitiva Men{\'e}ndez and Hoda Anton-Culver and Neuhausen, {Susan L} and Argyrios Ziogas and Clarke, {Christina A} and Hermann Brenner and Volker Arndt and Christa Stegmaier and Hiltrud Brauch and Thomas Br{\"u}ning and Yon-Dschun Ko and Muranen, {Taru A} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Bogdanova, {Natalia V} and Natalia Antonenkova and Annika Lindblom and Sara Margolin and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Hartikainen, {Jaana M} and Spurdle, {Amanda B} and Kconfab Investigators and Els Wauters and Dominiek Smeets and Benoit Beuselinck and Giuseppe Floris and Jenny Chang-Claude and Anja Rudolph and Petra Seibold and Dieter Flesch-Janys and Olson, {Janet E} and Celine Vachon and Pankratz, {Vernon S} and Catriona McLean and Haiman, {Christopher A} and Henderson, {Brian E} and Fredrick Schumacher and {Le Marchand}, Loic and Vessela Kristensen and Aln{\ae}s, {Grethe Grenaker} and Wei Zheng and Hunter, {David J} and Sara Lindstrom and Hankinson, {Susan E} and Peter Kraft and Andrulis, {Irene L} and Knight, {Julia A} and Gord Glendon and Mulligan, {Anna Marie} and Arja Jukkola-Vuorinen and Mervi Grip and Saila Kauppila and Peter Devilee and Tollenaar, {Robert A E M} and Caroline Seynaeve and Antoinette Hollestelle and Montserrat Garcia-Closas and Jonine Figueroa and Chanock, {Stephen J} and Jolanta Lissowska and Kamila Czene and Hatef Darabi and Mikael Eriksson and Eccles, {Diana M} and Sajjad Rafiq and Tapper, {William J} and Gerty, {Sue M} and Hooning, {Maartje J} and Martens, {John W M} and Coll{\'e}e, {J Margriet} and Madeleine Tilanus-Linthorst and Per Hall and Jingmei Li and Brand, {Judith S} and Keith Humphreys and Angela Cox and Reed, {Malcolm W R} and Craig Luccarini and Caroline Baynes and Dunning, {Alison M} and Ute Hamann and Diana Torres and Ulmer, {Hans Ulrich} and Thomas R{\"u}diger and Anna Jakubowska and Jan Lubinski and Katarzyna Jaworska and Katarzyna Durda and Susan Slager and Toland, {Amanda E} and Ambrosone, {Christine B} and Drakoulis Yannoukakos and Anthony Swerdlow and Alan Ashworth and Nick Orr and Michael Jones and Anna Gonz{\'a}lez-Neira and Guillermo Pita and Alonso, {M Rosario} and Nuria {\'A}lvarez and Daniel Herrero and Tessier, {Daniel C} and Daniel Vincent and Francois Bacot and Jacques Simard and Martine Dumont and Penny Soucy and Rosalind Eeles and Kenneth Muir and Fredrik Wiklund and Henrik Gronberg and Johanna Schleutker and Nordestgaard, {B{\o}rge G} and Maren Weischer and Travis, {Ruth C} and Neal, {David E} and Donovan, {Jenny L} and Hamdy, {Freddie C} and Kay-Tee Khaw and Stanford, {Janet L} and Blot, {William J} and Thibodeau, {Stephen N} and Schaid, {Daniel J} and Kelley, {Joseph L} and Christiane Maier and Kibel, {Adam S} and Cezary Cybulski and Cannon-Albright, {Lisa A} and Katja Butterbach and Jong-Sung Park and Radka Kaneva and Jyotsna Batra and Teixeira, {Manuel R} and ZSofia Kote-Jarai and Olama, {Ali Amin Al} and Sara Benlloch and Renner, {Stefan P} and Arndt Hartmann and Alexander Hein and Matthias Ruebner and Diether Lambrechts and {van Nieuwenhuysen}, Els and Ignace Vergote and Sandrina Lambretchs and Doherty, {Jennifer A} and Rossing, {Mary Anne} and Stefan Nickels and Ursula Eilber and Shan Wang-Gohrke and Kunle Odunsi and Sucheston-Campbell, {Lara E} and Grace Friel and Galina Lurie and Killeen, {Jeffrey L} and Wilkens, {Lynne R} and Goodman, {Marc T} and Ingo Runnebaum and Hillemanns, {Peter A} and Pelttari, {Liisa M} and Ralf Butzow and Francesmary Modugno and Edwards, {Robert P} and Ness, {Roberta B} and Moysich, {Kirsten B} and {du Bois}, Andreas and Florian Heitz and Philipp Harter and Stefan Kommoss and Karlan, {Beth Y} and Christine Walsh and Jenny Lester and Allan Jensen and Kjaer, {Susanne Kr{\"u}ger} and Estrid H{\o}gdall and Bernard Peissel and Bernardo Bonanni and Loris Bernard and Goode, {Ellen L} and Fridley, {Brooke L} and Vierkant, {Robert A} and Cunningham, {Julie M} and Larson, {Melissa C} and Fogarty, {Zachary C} and Kalli, {Kimberly R} and Dong Liang and Lu, {Karen H} and {T Hildebrandt}, {Michelle A} and Xifeng Wu and Levine, {Douglas A} and Fanny Dao and Maria Bisogna and Andrew Berchuck and Iversen, {Edwin S} and Marks, {Jeffrey R} and Lucy Akushevich and Cramer, {Daniel W} and Schildkraut, {Joellen M} and Terry, {Kathryn L} and Poole, {Elizabeth M} and Stampfer, {Meir J} and Tworoger, {Shelley S} and Bandera, {Elisa V} and Irene Orlow and Olson, {Sara H} and Line Bjorge and Salvesen, {Helga B} and Altena, {Anne Mvan} and Aben, {Katja K H} and Kiemeney, {Lambertus A} and Massuger, {Leon F A G} and Tanja Pejovic and Bean, {Yukie T} and Angela Brooks-Wilson and Kelemen, {Linda E} and Cook, {Linda S} and Le, {Nhu D} and Bohdan G{\'o}rski and Jacek Gronwald and Janusz Menkiszak and H{\o}gdall, {Claus K} and Lene Lundvall and Lotte Nedergaard and Engelholm, {Svend Aage} and Ed Dicks and Jonathan Tyrer and Ian Campbell and Iain McNeish and James Paul and Nadeem Siddiqui and Rosalind Glasspool and Whittemore, {Alice S} and Rothstein, {Joseph H} and Valerie McGuire and Weiva Sieh and Hui Cai and Xiao-Ou Shu and Teten, {Rachel T} and Rebecca Sutphen and McLaughlin, {John R} and Narod, {Steven A} and Phelan, {Catherine M} and Monteiro, {Alvaro N A} and David Fenstermacher and Hui-Yi Lin and Permuth, {Jennifer B} and Sellers, {Thomas A} and Chen, {Ann Y} and Ya-Yu Tsai and Zhihua Chen and Aleksandra Gentry-Maharaj and Gayther, {Simon A} and Ramus, {Susan J} and Usha Menon and Wu, {Anna H} and Pearce, {Celeste L} and {van den Berg}, David and Pike, {Malcolm C} and Agnieszka Dansonka-Mieszkowska and Joanna Plisiecka-Halasa and Joanna Moes-Sosnowska and Jolanta Kupryjanczyk and Pharoah, {Paul Dp} and Honglin Song and Ingrid Winship and Georgia Chenevix-Trench and Graham Giles and Tavtigian, {Sean V} and Easton, {Doug F} and Milne, {Roger L} and {Australian Ovarian Cancer Study}",
note = "Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.",
year = "2016",
month = dec,
doi = "10.1136/jmedgenet-2016-103839",
language = "English",
volume = "53",
pages = "800--811",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "12",

}

RIS

TY - JOUR

T1 - PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

AU - Southey, Melissa C

AU - Goldgar, David E

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Couch, Fergus

AU - Tischkowitz, Marc

AU - Foulkes, William D

AU - Dennis, Joe

AU - Michailidou, Kyriaki

AU - van Rensburg, Elizabeth J

AU - Heikkinen, Tuomas

AU - Nevanlinna, Heli

AU - Hopper, John L

AU - Dörk, Thilo

AU - Claes, Kathleen Bm

AU - Reis-Filho, Jorge S

AU - Teo, Zhi Ling

AU - Radice, Paolo

AU - Catucci, Irene

AU - Peterlongo, Paolo

AU - Tsimiklis, Helen

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N1 - Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

PY - 2016/12

Y1 - 2016/12

N2 - BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.RESULTS: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10(-5)), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10(-8)) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.CONCLUSIONS: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

AB - BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.RESULTS: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10(-5)), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10(-8)) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.CONCLUSIONS: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

KW - Journal Article

U2 - 10.1136/jmedgenet-2016-103839

DO - 10.1136/jmedgenet-2016-103839

M3 - SCORING: Journal article

C2 - 27595995

VL - 53

SP - 800

EP - 811

JO - J MED GENET

JF - J MED GENET

SN - 0022-2593

IS - 12

ER -