University of Oulu

Southey MC, Goldgar DE, Winqvist R, et al PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS Journal of Medical Genetics 2016;53:800-811.

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

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Author: Southey, Melissa C.1; Goldgar, David E.2; Winqvist, Robert3,4;
Pylkäs, Katri3,4; Couch, Fergus5; Tischkowitz, Marc6,7,8; Foulkes, William D.9,10; Dennis, Joe11; Michailidou, Kyriaki11; van Rensburg, Elizabeth J.12; Heikkinen, Tuomas13,14; Nevanlinna, Heli13,14; Hopper, John L.15; Doerk, Thilo16; Claes, Kathleen B. M.17; Reis-Filho, Jorge18,19; Teo, Zhi Ling1; Radice, Paolo20; Catucci, Irene21; Peterlongo, Paolo21; Tsimiklis, Helen1; Odefrey, Fabrice A.1; Dowty, James G.15; Schmidt, Marjanka K.; Broeks, Annegien; Hogervorst, Frans B.; Verhoef, Senno; Carpenter, Jane22; Clarke, Christine23; Scott, Rodney J.24,25; Fasching, Peter A.26,27; Haeberle, Lothar26,28; Ekici, Arif B.29; Beckmann, Matthias W.26; Peto, Julian30; dos-Santos-Silva, Isabel30; Fletcher, Olivia31; Johnson, Nichola31; Bolla, Manjeet K.11; Sawyer, Elinor J.32; Tomlinson, Ian33,34,35; Kerin, Michael J.36; Miller, Nicola36; Marme, Federik37,38; Burwinkel, Barbara37,39; Yang, Rongxi37,39; Guenel, Pascal40,41; Therese Truong40,41; Menegaux, Florence40,41; Sanchez, Marie40,41; Bojesen, Stig42,43; Nielsen, Sune F.42,43; Flyger, Henrik44; Benitez, Javier45,46; Pilar Zamora, M.47; Arias Perez, Jose Ignacio48; Menendez, Primitiva49; Anton-Culver, Hoda50; Neuhausen, Susan51; Ziogas, Argyrios50; Clarke, Christina A.52; Brenner, Hermann53,54,55; Arndt, Volker53; Stegmaier, Christa56; Brauch, Hiltrud55,57,58; Bruening, Thomas59; Ko, Yon-Dschun60; Muranen, Taru A.13,14; Aittomaki, Kristiina61; Blomqvist, Carl62; Bogdanova, Natalia V.16,63; Antonenkova, Natalia N.64; Lindblom, Annika65; Margolin, Sara66; Mannermaa, Arto67,68,69; Kataja, Vesa70,71; Kosma, Veli-Matti67,68,69; Hartikainen, Jaana M.67,68,69; Spurdle, Amanda B.72; Wauters, Els73,74; Smeets, Dominiek73,74; Beuselinck, Benoit75; Floris, Giuseppe75; Chang-Claude, Jenny76; Rudolph, Anja76; Seibold, Petra76; Flesch-Janys, Dieter77,78; Olson, Janet E.79; Vachon, Celine79; Pankratz, Vernon S.79; McLean, Catriona80; Haiman, Christopher A.81; Henderson, Brian E.81; Schumacher, Fredrick81; Le Marchand, Loic82; Kristensen, Vessela83,84; Alnaes, Grethe Grenaker83; Zheng, Wei85; Hunter, David J.86,87; Lindstrom, Sara86,87; Hankinson, Susan E.87,88,89; Kraft, Peter86,87; Andrulis, Irene90,91; Knight, Julia A.92,93; Glendon, Gord90; Mulligan, Anna Marie94,95,94; Jukkola-Vuorinen, Arja96; Grip, Mervi97; Kauppila, Saila98; Devilee, Peter99; Tollenaar, Robert A. E. M.99; Seynaeve, Caroline100,101; Hollestelle, Antoinette100,101; Garcia-Closas, Montserrat102; Figueroa, Jonine103; Chanock, Stephen J.103; Lissowska, Jolanta104,105; Czene, Kamila106; Darabi, Hatef106; Eriksson, Mikael106; Eccles, Diana M.107; Rafiq, Sajjad107; Tapper, William J.107; Gerty, Sue M.107; Hooning, Maartje J.101; Martens, John W. M.101; Collee, J. Margriet108; Tilanus-Linthorst, Madeleine109; Hall, Per106; Li, Jingmei110; Brand, Judith S.106; Humphreys, Keith106; Cox, Angela111; Reed, Malcolm W. R.111; Luccarini, Craig112; Baynes, Caroline112; Dunning, Alison M.112; Hamann, Ute113; Torres, Diana113,114; Ulmer, Hans Ulrich115; Ruediger, Thomas116; Jakubowska, Anna117; Lubinski, Jan117; Jaworska, Katarzyna117,118; Durda, Katarzyna117; Slager, Susan79; Toland, Amanda E.119; Ambrosone, Christine B.120; Yannoukakos, Drakoulis121; Swerdlow, Anthony122,123; Ashworth, Alan102; Orr, Nick102; Jones, Michael122; Gonzalez-Neira, Anna45; Pita, Guillermo45; Rosario Alonso, M.45; Alvarez, Nuria45; Herrero, Daniel45; Tessier, Daniel C.124; Vincent, Daniel125; Bacot, Francois125; Simard, Jacques126; Dumont, Martine126; Soucy, Penny126; Eeles, Rosalind127,128; Muir, Kenneth129; Wiklund, Fredrik130; Gronberg, Henrik130; Schleutker, Johanna131,132,133; Nordestgaard, Borge G.134; Weischer, Maren135,43; Travis, Ruth C.136; Neal, David137,138; Donovan, Jenny L.139; Hamdy, Freddie C.140; Khaw, Kay-Tee141; Stanford, Janet L.142,143; Blot, William J.144; Thibodeau, Stephen5; Schaid, Daniel J.79; Kelley, Joseph L.145; Maier, Christiane146,147; Kibel, Adam S.45,86,148,149; Cybulski, Cezary150; Cannon-Albright, Lisa151; Butterbach, Katja53; Park, Jong152; Kaneva, Radka153,154; Batra, Jyotsna155,156,157; Teixeira, Manuel R.158,159; Kote-Jarai, Zsofia127; Al Olama, Ali Amin11; Benlloch, Sara11; Renner, Stefan P.160; Hartmann, Arndt161; Hein, Alexander160; Ruebner, Matthias160; Lambrechts, Diether162,74; Van Nieuwenhuysen, Els163; Vergote, Ignace163; Lambretchs, Sandrina163; Doherty, Jennifer A.164; Rossing, Mary Anne165,166; Nickels, Stefan76; Eilber, Ursula76; Wang-Gohrke, Shan167; Odunsi, Kunle168; Sucheston-Campbell, Lara E.168; Friel, Grace168; Lurie, Galina169; Killeen, Jeffrey L.170; Wilkens, Lynne R.169; Goodman, Marc T.171,172; Runnebaum, Ingo173; Hillemanns, Peter A.174; Pelttari, Liisa M.13,14; Butzow, Ralf175; Modugno, Francesmary176,177,178,179,180; Edwards, Robert P.145; Ness, Roberta B.181; Moysich, Kirsten B.182; du Bois, Andreas183,184; Heitz, Florian183,184; Harter, Philipp183,184; Kommoss, Stefan184,185; Karlan, Beth Y.186; Walsh, Christine186; Lester, Jenny186; Jensen, Allan187; Kjaer, Susanne Kruger187,188; Hogdall, Estrid187,189; Peissel, Bernard190; Bonanni, Bernardo191; Bernard, Loris192,193; Goode, Ellen L.79; Fridley, Brooke L.194; Vierkant, Robert A.79; Cunningham, Julie M.5; Larson, Melissa C.79; Fogarty, Zachary C.79; Kalli, Kimberly R.195; Liang, Dong196; Lu, Karen H.197; Hildebrandt, Michelle A. T.198; Wu, Xifeng198; Levine, Douglas A.199; Dao, Fanny199; Bisogna, Maria199; Berchuck, Andrew200; Iversen, Edwin S.201; Marks, Jeffrey R.202; Akushevich, Lucy203; Cramer, Daniel W.204; Schildkraut, Joellen203; Terry, Kathryn L.204; Poole, Elizabeth M.205,89,206; Stampfer, Meir87,205,89; Tworoger, Shelley S.205,89,206; Bandera, Elisa V.207; Orlow, Irene208; Olson, Sara H.208; Bjorge, Line209,210; Salvesen, Helga B.209,210; van Altena, Anne M.211; Aben, Katja K. H.212,213,214; Kiemeney, Lambertus A.212; Massuger, Leon F. A. G.211; Pejovic, Tanja215; Bean, Yukie215; Brooks-Wilson, Angela216,217; Kelemen, Linda E.218,219; Cook, Linda S.220; Le, Nhu D.221; Grski, Bohdan150; Gronwald, Jacek150; Menkiszak, Janusz222; Hogdall, Claus K.188; Lundvall, Lene223; Nedergaard, Lotte224; Engelholm, Svend Aage225; Dicks, Ed226; Tyrer, Jonathan226; Campbell, Ian227; McNeish, Iain228; Paul, James229; Siddiqui, Nadeem230; Glasspool, Rosalind230; Whittemore, Alice S.231; Rothstein, Joseph H.231; McGuire, Valerie231; Sieh, Weiva231; Cai, Hui85; Shu, Xiao-Ou85; Teten, Rachel T.232; Sutphen, Rebecca232; McLaughlin, John R.233; Narod, Steven A.234; Phelan, Catherine M.235; Monteiro, Alvaro N.235; Fenstermacher, David236; Lin, Hui-Yi236; Permuth, Jennifer B.235; Sellers, Thomas A.235; Chen, Y. Ann236; Tsai, Ya-Yu235; Chen, Zhihua236; Gentry-Maharaj, Aleksandra237; Gayther, Simon A.238; Ramus, Susan J.238; Menon, Usha237; Wu, Anna H.238; Pearce, Celeste L.238; Van den Berg, David238; Pike, Malcolm C.238,208; Dansonka-Mieszkowska, Agnieszka239,105; Plisiecka-Halasa, Joanna239,105; Moes-Sosnowska, Joanna239,105; Kupryjanczyk, Jolanta239,105; Pharoah, Paul D. P.226; Song, Honglin226; Winship, Ingrid240,241; Chenevix-Trench, Georgia72; Giles, Graham G.15,242; Tavtigian, Sean V.2; Easton, Doug F.11; Milne, Roger L.15,242
Organizations: 1Univ Melbourne, Genet Epidemiol Lab, Dept Pathol, Melbourne, Vic 3010, Australia.
2Huntsman Canc Inst, Salt Lake City, UT USA.
3Univ Oulu, Lab Canc Genet & Tumor Biol, Canc & Translat Med Res Unit, Nordlab Oulu, Oulu, Finland.
4Univ Oulu, Bioctr Oulu, Oulu, Finland.
5Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.
6Univ Cambridge, Dept Med Genet, Cambridge, England.
7Univ Cambridge, Natl Inst Hlth Res, Cambridge Biomed Res Ctr, Cambridge, England.
8Addenbrookes Hosp, Dept Clin Genet, East Anglian Reg Genet Serv, Cambridge, England.
9Lady Davis Inst, Program Canc Genet, Dept Human Genet & Oncol, Montreal, PQ, Canada.
10McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ, Canada.
11Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Strangeways Lab, Worts Causeway, Cambridge, England.
12Univ Pretoria, Dept Genet, Pretoria, South Africa.
13Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland.
14Univ Helsinki, Cent Hosp, Helsinki, Finland.
15Univ Melbourne, Ctr Epidemiol & Biostat, Sch Populat & Global Hlth, Melbourne, Vic, Australia.
16Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany.
17Ghent Univ Hosp, Ctr Med Genet, De Pintelaan 185, B-9000 Ghent, Belgium.
18Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA.
19Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, 1275 York Ave, New York, NY 10021 USA.
20Fdn IRCCS Ist Nazl Tumori INT, Dept Prevent & Predict Med, Unit Mol Bases Genet Risk & Genet Testing, Milan, Italy.
21IFOM, Milan, Italy.
22Univ Sydney, Westmead Inst Med Res, Australian Breast Canc Tissue Bank, Sydney, NSW, Australia.
23Univ Sydney, Westmead Inst Med Res, Ctr Canc Res, Sydney, NSW, Australia.
24Pathol North, Div Mol Med, Newcastle, NSW, Australia.
25Univ Newcastle, Newcastle, NSW, Australia.
26Friedrich Alexander Univ Erlangen Nuremberg, Univ Breast Ctr Franconia, Dept Gynecol & Obstet, Univ Hosp Erlangen,Comprehens Canc Ctr Erlangen E, Erlangen, Germany.
27Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA.
28Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Dept Gynecol & Obstet, Unit Biostat, Erlangen, Germany.
29Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Inst Human Genet, Erlangen, Germany.
30London Sch Hyg & Trop Med, Noncommunicable Dis Epidemiol Dept, London, England.
31Inst Canc Res, Breakthrough Breast Canc Res Ctr, London, England.
32Kings Coll London, Guys & St Thomas NHS Fdn Trust, NIHR Comprehens Biomed Res Ctr, Div Canc Studies, London, England.
33Univ Oxford, Wellcome Trust, Ctr Human Genet, Oxford, England.
34Univ Oxford, Oxford Biomed Res Ctr, Oxford, England.
35Oxford NIHR Biomed Res Ctr, Headington OX3 7LE, England.
36Univ Hosp Galway, NUIGalway, Surg, Lambe Inst Translat Sci, Galway, Ireland.
37Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany.
38Heidelberg Univ, Natl Ctr Tumor Dis, Heidelberg, Germany.
39German Canc Res Ctr, Mol Epidemiol Grp, Heidelberg, Germany.
40INSERM, U1018, CESP Ctr Res Epidemiol & Populat Hlth, Environm Epidemiol Canc, Villejuif, France.
41Univ Paris Sud, UMRS 1018, Villejuif, France.
42Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Copenhagen Gen Populat Study, Copenhagen, Denmark.
43Univ Copenhagen, Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Copenhagen, Denmark.
44Copenhagen Univ Hosp, Herlev Hosp, Dept Breast Surg, Copenhagen, Denmark.
45Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Program, Human Genet Grp, Madrid, Spain.
46Ctr Invest Red Enfermedades Raras CIBERER, Valencia, Spain.
47Hosp Univ La Paz, Serv Oncol Med, Madrid, Spain.
48Hosp Monte Naranco, Serv Cirugia Gen & Especialidades, Oviedo, Spain.
49Hosp Monte Naranco, Serv Anat Patol, Oviedo, Spain.
50Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA.
51City Hope Natl Med Ctr, Beckman Res Inst, Duarte, CA USA.
52Canc Prevent Inst Calif, Fremont, CA USA.
53German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.
54German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany.
55German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany.
56Saarland Canc Registry, Saarbrucken, Germany.
57Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany.
58Univ Tubingen, Tubingen, Germany.
59Inst Ruhr Univ, Inst Prevent & Occupat Med, German Social Accid Insurance, Bochum, Ipa, Germany.
60Johanniter Krankenhaus, Evangel Kliniken Bonn gGmbH, Dept Internal Med, Bonn, Germany.
61Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland.
62Univ Helsinki, Cent Hosp, Dept Oncol, Helsinki, Finland.
63Hannover Med Sch, Dept Radiat Oncol, Hannover, Germany.
64NN Alexandrov Res Inst Oncol & Med Radiol, Minsk, Byelarus.
65Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
66Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.
67Univ Eastern Finland, Sch Med, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.
68Univ Eastern Finland, Canc Ctr Eastern Finland, Kuopio, Finland.
69Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, Kuopio, Finland.
70Univ Eastern Finland, Inst Clin Med, Sch Med, Oncol, Kuopio, Finland.
71Kuopio Univ Hosp, Canc Ctr Eastern Finland, Bioctr Kuopio, Kuopio, Finland.
72QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia.
73VIB, VRC, Leuven, Belgium.
74Univ Leuven, Dept Oncol, Lab Translat Genet, Leuven, Belgium.
75Univ Hosp Gasthuisberg, Leuven, Belgium.
76German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany.
77Univ Clin Hamburg Eppendorf, Dept Canc Epidemiol, Clin Canc Registry, Hamburg, Germany.
78Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany.
79Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA.
80Alfred Hosp, Anat Pathol, Melbourne, Vic, Australia.
81Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA.
82Univ Hawaii, Canc Res Ctr, Epidemiol Program, Honolulu, HI 96813 USA.
83Radiumhospitalet, Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway.
84Univ Oslo UiO, Fac Med, Fac Div Ahus, Oslo, Norway.
85Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med,Vanderbilt Epidemiol Ctr, Nashville, TN 37212 USA.
86Harvard Sch Publ Hlth, Program Mol & Genet Epidemiol, Boston, MA USA.
87Harvard Sch Publ Hlth, Dept Epidemiol, Boston, MA USA.
88Brigham & Womens Hosp, Dept Med, Channing Lab, Boston, MA 02115 USA.
89Harvard Med Sch, Boston, MA USA.
90Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Ontario Canc Genet Network, Toronto, ON, Canada.
91Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
92Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Prosserman Ctr Hlth Res, Toronto, ON, Canada.
93Univ Toronto, Dalla Lana Sch Publ Hlth, Div Epidemiol, Toronto, ON, Canada.
94Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada.
95Univ Hlth Network, Lab Med Program, Toronto, ON, Canada.
96Univ Oulu, Oulu Univ Hosp, Dept Oncol, Oulu, Finland.
97Univ Oulu, Oulu Univ Hosp, Dept Surg, Oulu, Finland.
98Univ Oulu, Oulu Univ Hosp, Dept Pathol, Oulu, Finland.
99Leiden Univ, Med Ctr, Dept Surg Oncol, NL-2300 RC Leiden, Netherlands.
100Daniel Denhoed Canc Ctr, Erasmus MC, Dept Med Oncol, Family Canc Clin, Rotterdam, Netherlands.
101Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands.
102Inst Canc Res, Breast Canc Now Toby Robins Res Ctr, London SW3 6JB, England.
103NCI, Div Canc Epidemiol & Genet, Rockville, MD USA.
104M Sklodowska Curie Mem Canc Ctr, Dept Canc Epidemiol & Prevent, Warsaw, Poland.
105Inst Oncol, Warsaw, Poland.
106Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.
107Univ Southampton UoS, Fac Med, Southampton, Hants, England.
108Erasmus Univ, Med Ctr, Family Canc Clin, Dept Clin Genet, Rotterdam, Netherlands.
109Erasmus Univ, Med Ctr, Family Canc Clin, Dept Surg Oncol, Rotterdam, Netherlands.
110Genome Inst Singapore, Human Genet Div, Singapore 138672, Singapore.
111Univ Sheffield, Dept Oncol, Sheffield Canc Res, Sheffield, S Yorkshire, England.
112Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.
113German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany.
114Pontificia Univ Javeriana, Inst Human Genet, Bogota, Colombia.
115Stadtklin Baden Baden, Frauenklin, Baden Baden, Germany.
116Stadt Klinikum Karlsruhe, Inst Pathol, Karlsruhe, Germany.
117Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland.
118Med Univ Warsaw, Postgrad Sch Mol Med, Warsaw, Poland.
119Ohio State Univ, Ctr Comprehens Canc, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA.
120Roswell Pk Canc Inst, Buffalo, NY USA.
121Aghia Paraskevi Attikis, Natl Ctr Sci Res Demokritos, IRRP, Mol Diagnost Lab, Athens, Greece.
122Inst Canc Res, Div Genet & Epidemiol, London, England.
123Inst Canc Res, Div Breast Canc Res, London, England.
124McGill Univ, Ctr Innovat Genome Quebec, Montreal, PQ, Canada.
125McGill Univ, Montreal, PQ, Canada.
126Univ Laval, Ctr Hosp Univ Quebec, Res Ctr, Canc Genom Lab, Quebec City, PQ, Canada.
127Inst Canc Res, London SM2 5NG, England.
128Royal Marsden NHS Fdn Trust, London SW3 6JJ, England.
129Univ Warwick, Coventry, W Midlands, England.
130Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
131Univ Turku, Dept Med Biochem & Genet, Turku, Finland.
132Turku Univ Hosp, Dept Med Genet, Tyks Microbiol & Genet, Turku, Finland.
133Univ Tampere, Inst Biomed Technol, BioMediTech, Tampere, Finland.
134Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Herlev Ringvej 75, DK-2730 Herlev, Denmark.
135Univ Utah, Dept Human Genet, Salt Lake City, UT USA.
136Univ Oxford, Nuffield Dept Populat Hlth, Canc Epidemiol Unit, Oxford, England.
137Univ Cambridge, Addenbrookes Hosp, Surg Oncol Urooncol S4, Box 279,Hills Rd, Cambridge, England.
138Canc Res UK Cambridge Res Inst, Li Ka Shing Ctr, Cambridge, England.
139Univ Bristol, Social Med, Canynge Hall,39 Whatley Rd, Bristol BS8 2PS, Avon, England.
140Univ Oxford, Nuffield Dept Surg Sci, Old Rd,Campus Res Bldg,Off Roosevelt Dr, Oxford OX3 7DQ, England.
141Univ Cambridge, Cambridge Inst Publ Hlth, Forvie Site,Robinson Way, Cambridge CB2 0SR, England.
142Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA.
143Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA.
144Int Epidemiol Inst, 1455 Res Blvd,Suite 550, Rockville, MD 20850 USA.
145Univ Pittsburgh, Sch Med, Dept Obstet Gynecol & Reprod Sci, Pittsburgh, PA USA.
146Univ Hosp Ulm, Dept Urol, Ulm, Germany.
147Univ Hosp Ulm, Inst Human Genet, Ulm, Germany.
148Brigham & Womens Hosp, Dana Farber Canc Inst, 45 Francis St,ASB 2-3, Boston, MA 02115 USA.
149Washington Univ, St Louis, MO USA.
150Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, Szczecin, Poland.
151Univ Utah, Dept Med, Sch Med, Div Genet Epidemiol, Salt Lake City, UT 84112 USA.
152H Lee Moffitt Canc Ctr & Res Inst, Div Canc Prevent & Control, 12902 Magnolia Dr, Tampa, FL USA.
153Med Univ Sofia, Mol Med Ctr, 2 Zdrave St, Sofia 1431, Bulgaria.
154Med Univ Sofia, Dept Med Chem & Biochem, 2 Zdrave St, Sofia 1431, Bulgaria.
155Queensland Univ Technol, Australian Prostate Canc Res Ctr Qld, Inst Hlth & Biomed Innovat, Brisbane, Qld, Australia.
156Queensland Univ Technol, Sch Life Sci, Brisbane, Qld, Australia.
157Queensland Univ Technol, Sch Publ Hlth, Brisbane, Qld, Australia.
158Portuguese Oncol Inst, Dept Genet, Oporto, Portugal.
159Univ Porto, Biomed Sci Inst ICBAS, Oporto, Portugal.
160Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, Dept Gynecol & Obstet, Univ Str 21-23, D-91054 Erlangen, Germany.
161Friedrich Alexander Univ Erlangen Nuremberg, Inst Pathol, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, Univ Str 21-23, D-91054 Erlangen, Germany.
162VIB, Vesalius Res Ctr, Leuven, Belgium.
163Geisel Sch Med Dartmouth, Dept Epidemiol, Lebanon, NH USA.
164Geisel Sch Med Dartmouth, Dept Epidemiol, Hannover, Germany.
165Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Program Epidemiol, 1124 Columbia St, Seattle, WA 98104 USA.
166Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.
167Univ Ulm, Dept Obstet & Gynecol, Ulm, Germany.
168Roswell Pk Canc Inst, Dept Gynecol Oncol, Buffalo, NY 14263 USA.
169Univ Hawaii, Ctr Canc, Canc Epidemiol Program, Honolulu, HI 96822 USA.
170Univ Hawaii, Dept Pathol, Kapiolani Med Ctr Women & Children, John A Burns Sch Med, Honolulu, HI 96826 USA.
171Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Canc Prevent & Control, Los Angeles, CA 90048 USA.
172Cedars Sinai Med Ctr, Community & Populat Hlth Res Inst, Dept Biomed Sci, Los Angeles, CA 90048 USA.
173Friedrich Schiller Univ, Jena Univ Hosp, Dept Gynecol & Obstet, Jena, Germany.
174Hannover Med Sch, Clin Obstet & Gynaecol, Hannover, Germany.
175Univ Helsinki, Cent Hosp, Dept Pathol, Helsinki 00029, Hus, Finland.
176Univ Pittsburgh, Dept Obstet Gynecol & Reprod Sci, Pittsburgh, PA USA.
177Ovarian Canc Ctr Excellence, Pittsburgh, PA USA.
178Univ Pittsburgh, Dept Epidemiol, Grad Sch Publ Hlth, Pittsburgh, PA 15261 USA.
179Magee Womens Res Inst, Womens Canc Res Program, Pittsburgh, PA USA.
180Univ Pittsburgh, Inst Canc, Pittsburgh, PA USA.
181Univ Texas Houston, Sch Publ Hlth, Houston, TX USA.
182Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA.
183Evang Huyssens Stiftung Knappschaft GmbH, Kliniken Essen Mitte, Dept Gynecol & Gynecol Oncol, Essen, Germany.
184Dr Horst Schmidt Kliniken Wiesbaden, Dept Gynecol & Gynecol Oncol, Wiesbaden, Germany.
185Tuebingen Univ Hosp, Dept Womens Hlth, Tubingen, Germany.
186Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA.
187Danish Canc Soc, Res Ctr, Dept Virus Lifestyle & Genes, Copenhagen, Denmark.
188Rigshosp, Dept Obstet & Gynecol, Copenhagen, Denmark.
189Univ Copenhagen, Herlev Hosp, Dept Pathol, Mol Unit, Copenhagen, Denmark.
190Fdn IRCCS Ist Nazl Tumori INT, Dept Prevent & Predict Med, Unit Med Genet, Milan, Italy.
191IEO, Div Canc Prevent & Genet, Milan, Italy.
192IEO, Dept Expt Oncol, Milan, Italy.
193Cogentech Canc Genet Test Lab, Milan, Italy.
194Univ Kansas, Med Ctr, Kansas City, KS 66103 USA.
195Mayo Clin, Dept Med Oncol, Rochester, MN USA.
196Texas Southern Univ, Coll Pharm & Hlth Sci, Houston, TX USA.
197Univ Texas MD Anderson Canc Ctr, Dept Gynecol Oncol, Houston, TX 77030 USA.
198Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA.
199Mem Sloan Kettering Canc Ctr, Dept Surg, Gynecol Serv, 1275 York Ave, New York, NY 10021 USA.
200Duke Univ, Med Ctr, Dept Obstet & Gynecol, Durham, NC USA.
201Duke Univ, Dept Stat Sci, Durham, NC USA.
202Duke Univ, Med Ctr, Dept Surg, Durham, NC 27710 USA.
203Duke Canc Inst, Canc Prevent Detect & Control Res Program, Durham, NC USA.
204Brigham & Womens Hosp, Obstet & Gynecol Epidemiol Ctr, 75 Francis St, Boston, MA 02115 USA.
205Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA.
206Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA.
207State Univ New Jersey, Rutgers Canc Inst New Jersey, Canc Prevent & Control Program, New Brunswick, NJ USA.
208Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, 1275 York Ave, New York, NY 10021 USA.
209Haukeland Univ Horpital, Dept Gynecol & Obstet, Bergen, Norway.
210Univ Bergen, Dept Clin Sci, Ctr Canc Biomarkers, Bergen, Norway.
211Radboud Univ Nijmegen, Med Ctr, Dept Gynaecol, Nijmegen, Netherlands.
212Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, Nijmegen, Netherlands.
213Netherlands Comprehens Canc Org, Utrecht, Netherlands.
214Oregon Hlth & Sci Univ, Dept Obstet & Gynecol, Portland, OR 97201 USA.
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216BC Canc Agcy, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada.
217Simon Fraser Univ, Dept Biomed Physiol & Kinesiol, Burnaby, BC, Canada.
218Med Univ South Carolina, Dept Publ Hlth Sci, Coll Med, Charleston, SC USA.
219Med Univ South Carolina, Hollings Canc Ctr, Charleston, SC USA.
220Univ New Mexico, Dept Internal Med, Div Epidemiol & Biostat, Albuquerque, NM 87131 USA.
221BC Canc Agcy, Canc Control Res, Vancouver, BC, Canada.
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223Univ Copenhagen, Rigshosp, Gyn Clin, Copenhagen, Denmark.
224Univ Copenhagen, Rigshosp, Dept Pathol, Copenhagen, Denmark.
225Univ Copenhagen, Rigshosp, Dept Oncol, Copenhagen, Denmark.
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233Publ Hlth Ontario, Toronto, ON, Canada.
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242Canc Council Victoria, Cancer Epidemiol Ctr, Melbourne, Vic, Australia.
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.4 MB)
Persistent link: http://urn.fi/urn:nbn:fi-fe201702211822
Language: English
Published: BMJ publishing group, 2016
Publish Date: 2017-03-30
Description:

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=7.1x10-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9x10-8) 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.

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Series: Journal of medical genetics
ISSN: 0022-2593
ISSN-E: 1468-6244
ISSN-L: 0022-2593
Volume: 53
Issue: 12
Pages: 800 - 811
DOI: 10.1136/jmedgenet-2016-103839
OADOI: https://oadoi.org/10.1136/jmedgenet-2016-103839
Type of Publication: A1 Journal article – refereed
Field of Science: 3122 Cancers
Subjects:
Funding: Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement no 223175(HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C5047/A8384, C5047/A15007, C5047/A10692, CRUK C8197/A10123), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (No. 1 U19 CA 148537-the GAME-ON initiative), the Department of Defense (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, the Ovarian Cancer Research Fund and Susan G Komen (WF).
Copyright information: 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/ This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/
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