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Results: 1 to 20 of 95

1.

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

Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A; Australian Ovarian Cancer Study Group, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H; Breast Cancer Family Register, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KB, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Silva ID, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD; EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA; GEMO Study Collaborators; GENICA Network, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Gschwantler Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TV, Harter P, Hartikainen JM, Healey S; HEBON, Hein A, Heitz F, Henderson BE, Herzog J, T Hildebrandt MA, Høgdall CK, Høgdall E, Hogervorst FB, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N; KConFab Investigators, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, Mai PL, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JW, Massuger LF, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MW, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L; SWE-BRCA, Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RA, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AM, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Pilar Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PD, Rookus MA, Hooning MJ, Goode EL.

Gynecol Oncol. 2015 May 2. pii: S0090-8258(15)00863-X. doi: 10.1016/j.ygyno.2015.04.034. [Epub ahead of print] Review.

PMID:
25940428
2.

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS; BCFR, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC, Hansen TV, Osorio A, Benitez J, Andrés-Conejero R, Segota E, Weitzel JN, Thelander M, Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A, Brewer C, Foo C, Evans DG, Frost D, Eccles D; EMBRACE, Douglas F, Cook J, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F; GEMO Study Collaborators, Dreyfus H, Barjhoux L, Golmard L, Uhrhammer N, Bonadona V, Sornin V, Bignon YJ, Carter J, Van Le L, Piedmonte M, DiSilvestro PA, de la Hoya M, Caldes T, Nevanlinna H, Aittomäki K, Jager A, van den Ouweland AM, Kets CM, Aalfs CM, van Leeuwen FE, Hogervorst FB, Meijers-Heijboer HE; HEBON, Oosterwijk JC, van Roozendaal KE, Rookus MA, Devilee P, van der Luijt RB, Olah E, Diez O, Teulé A, Lazaro C, Blanco I, Del Valle J, Jakubowska A, Sukiennicki G, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Agnarsson BA, Maugard C, Amadori A, Montagna M, Teixeira MR, Spurdle AB, Foulkes W, Olswold C, Lindor N, Pankratz VS, Szabo CI, Lincoln A, Jacobs L, Corines M, Robson M, Vijai J, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Greene MH, Mai PL, Rennert G, Imyanitov EN, Mulligan AM, Glendon G, Andrulis IL, Tchatchou S, Toland AE, Pedersen IS, Thomassen M, Kruse TA, Jensen UB, Caligo MA, Friedman E, Zidan J, Laitman Y, Lindblom A, Melin B, Arver B, Loman N, Rosenquist R, Olopade OI, Nussbaum RL, Ramus SJ, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Mitchell G, Karlan BY, Lester J, Orsulic S, Stoppa-Lyonnet D, Thomas G, Simard J, Couch FJ, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Mazoyer S, Phelan CM, Sinilnikova OM, Cox DG.

Breast Cancer Res. 2015 Apr 25;17(1):61. [Epub ahead of print]

PMID:
25925750
3.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.

JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985.

PMID:
25849179
4.

Expression of human poly (ADP-ribose) polymerase 1 in Saccharomyces cerevisiae: Effect on survival, homologous recombination and identification of genes involved in intracellular localization.

La Ferla M, Mercatanti A, Rocchi G, Lodovichi S, Cervelli T, Pignata L, Caligo MA, Galli A.

Mutat Res. 2015 Apr;774:14-24. doi: 10.1016/j.mrfmmm.2015.02.006. Epub 2015 Mar 6.

PMID:
25779917
5.

Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.

Gambino G, Tancredi M, Falaschi E, Aretini P, Caligo MA.

Int J Mol Med. 2015 Apr;35(4):950-6. doi: 10.3892/ijmm.2015.2103. Epub 2015 Feb 16.

6.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR; KConFab Investigators, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J; Australian Cancer Study (Ovarian Cancer Investigators); Australian Ovarian Cancer Study Group, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.

Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12.

PMID:
25581431
7.

Association of SULT1A1 Arg²¹³His polymorphism with male breast cancer risk: results from a multicenter study in Italy.

Ottini L, Rizzolo P, Zanna I, Silvestri V, Saieva C, Falchetti M, Masala G, Navazio AS, Capalbo C, Bianchi S, Manoukian S, Barile M, Peterlongo P, Caligo MA, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Cini G, Montagna M, Radice P, Palli D.

Breast Cancer Res Treat. 2014 Dec;148(3):623-8. doi: 10.1007/s10549-014-3193-2. Epub 2014 Nov 11.

PMID:
25385181
8.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, Radice P, Ramus SJ, Domchek SM, Nathanson KL, Lee A, Healey S, Nussbaum RL, Rebbeck TR, Arun BK, James P, Karlan BY, Lester J, Cass I; Breast Cancer Family Registry, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, v O Hansen T, Ejlertsen B, Gerdes AM, Nielsen FC, Dennis J, Cunningham J, Hart S, Slager S, Osorio A, Benitez J, Duran M, Weitzel JN, Tafur I, Hander M, Peterlongo P, Manoukian S, Peissel B, Roversi G, Scuvera G, Bonanni B, Mariani P, Volorio S, Dolcetti R, Varesco L, Papi L, Tibiletti MG, Giannini G, Fostira F, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D; EMBRACE Study, Douglas F, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Ellis S, Godwin AK, Rhiem K, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Steinemann D, Bogdanova-Markov N, Kast K, Varon-Mateeva R, Wang-Gohrke S, Gehrig A, Markiefka B, Buecher B, Lefol C, Stoppa-Lyonnet D, Rouleau E, Prieur F, Damiola F; GEMO Study Collaborators, Barjhoux L, Faivre L, Longy M, Sevenet N, Sinilnikova OM, Mazoyer S, Bonadona V, Caux-Moncoutier V, Isaacs C, Van Maerken T, Claes K, Piedmonte M, Andrews L, Hays J, Rodriguez GC, Caldes T, de la Hoya M, Khan S, Hogervorst FB, Aalfs CM, de Lange JL, Meijers-Heijboer HE, van der Hout AH, Wijnen JT, van Roozendaal KE, Mensenkamp AR, van den Ouweland AM, van Deurzen CH, van der Luijt RB; HEBON, Olah E, Diez O, Lazaro C, Blanco I, Teulé A, Menendez M, Jakubowska A, Lubinski J, Cybulski C, Gronwald J, Jaworska-Bieniek K, Durda K, Arason A, Maugard C, Soucy P, Montagna M, Agata S, Teixeira MR; KConFab Investigators, Olswold C, Lindor N, Pankratz VS, Hallberg E, Wang X, Szabo CI, Vijai J, Jacobs L, Corines M, Lincoln A, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Mai PL, Greene MH, Rennert G, Imyanitov EN, Glendon G, Toland AE, Bojesen A, Pedersen IS, Jensen UB, Caligo MA, Friedman E, Berger R, Laitman Y, Rantala J, Arver B, Loman N, Borg A, Ehrencrona H, Olopade OI, Simard J, Easton DF, Chenevix-Trench G, Offit K, Couch FJ, Antoniou AC; CIMBA.

Breast Cancer Res. 2014 Dec 31;16(6):3416. doi: 10.1186/s13058-014-0492-9.

9.

Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.

Guglielmi C, Cerri I, Evangelista M, Collavoli A, Tancredi M, Aretini P, Caligo MA.

Breast Cancer Res Treat. 2013 Oct;141(3):515-22. doi: 10.1007/s10549-013-2705-9. Epub 2013 Oct 9.

PMID:
24104880
10.

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics.

Varesco L, Viassolo V, Viel A, Gismondi V, Radice P, Montagna M, Alducci E, Della Puppa L, Oliani C, Tommasi S, Caligo MA, Vivanet C, Zuradelli M, Mandich P, Tibiletti MG, Cavalli P, Lucci Cordisco E, Turchetti D, Boggiani D, Bracci R, Bruzzi P, Bonelli L.

Breast. 2013 Dec;22(6):1130-5. doi: 10.1016/j.breast.2013.07.053. Epub 2013 Sep 5.

PMID:
24011770
11.

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A; kConFab Investigators, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA.

PLoS Genet. 2013;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27.

12.

Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae.

Spugnesi L, Balia C, Collavoli A, Falaschi E, Quercioli V, Caligo MA, Galli A.

Mutagenesis. 2013 Mar;28(2):187-95. doi: 10.1093/mutage/ges069. Epub 2013 Jan 16.

13.

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, Wang X, Cox A, Brock I, Elliott G, Reed MW, Burwinkel B, Meindl A, Brauch H, Hamann U, Ko YD; GENICA Network, Broeks A, Schmidt MK, Van 't Veer LJ, Braaf LM, Johnson N, Fletcher O, Gibson L, Peto J, Turnbull C, Seal S, Renwick A, Rahman N, Wu PE, Yu JC, Hsiung CN, Shen CY, Southey MC, Hopper JL, Hammet F, Van Dorpe T, Dieudonne AS, Hatse S, Lambrechts D, Andrulis IL, Bogdanova N, Antonenkova N, Rogov JI, Prokofieva D, Bermisheva M, Khusnutdinova E, van Asperen CJ, Tollenaar RA, Hooning MJ, Devilee P, Margolin S, Lindblom A, Milne RL, Arias JI, Zamora MP, Benítez J, Severi G, Baglietto L, Giles GG; kConFab; AOCS Study Group, Spurdle AB, Beesley J, Chen X, Holland H, Healey S, Wang-Gohrke S, Chang-Claude J, Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Agnarsson BA, Caligo MA, Godwin AK, Nevanlinna H, Heikkinen T, Fredericksen Z, Lindor N, Nathanson KL, Domchek SM; SWE-BRCA, Loman N, Karlsson P, Stenmark Askmalm M, Melin B, von Wachenfeldt A; HEBON, Hogervorst FB, Verheus M, Rookus MA, Seynaeve C, Oldenburg RA, Ligtenberg MJ, Ausems MG, Aalfs CM, Gille HJ, Wijnen JT, Gómez García EB; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Pichert G, Davidson R, Chu C, Eccles D, Ong KR, Cook J, Douglas F, Hodgson S, Evans DG, Eeles R, Gold B, Pharoah PD, Offit K, Chenevix-Trench G, Easton DF; BCAC/CIMBA.

PLoS One. 2012;7(6):e35706. doi: 10.1371/journal.pone.0035706. Epub 2012 Jun 29.

14.

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Ding YC, McGuffog L, Healey S, Friedman E, Laitman Y, Paluch-Shimon S, Kaufman B; SWE-BRCA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Gronwald J, Huzarski T, Cybulski C, Byrski T, Osorio A, Cajal TR, Stavropoulou AV, Benítez J, Hamann U; HEBON, Rookus M, Aalfs CM, de Lange JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Gómez García EB, Hoogerbrugge N, Jager A, van der Luijt RB; EMBRACE, Easton DF, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Godwin AK, Pathak H; GEMO Study Collaborators, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Barjhoux L, Léoné M, Gauthier-Villars M, Caux-Moncoutier V, de Pauw A, Hardouin A, Berthet P, Dreyfus H, Ferrer SF, Collonge-Rame MA, Sokolowska J, Buys S, Daly M, Miron A, Terry MB, Chung W, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson OT, Offit K, Sarrel K, Gaudet MM, Vijai J, Robson M, Piedmonte MR, Andrews L, Cohn D, DeMars LR, DiSilvestro P, Rodriguez G, Toland AE, Montagna M, Agata S, Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Ramus SJ, Sucheston L, Karlan BY, Gross J, Ganz PA, Beattie MS, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Nevanlinna H, Aittomäki K, Simard J; KConFab Investigators, Spurdle AB, Beesley J, Chen X, Tomlinson GE, Weitzel J, Garber JE, Olopade OI, Rubinstein WS, Tung N, Blum JL, Narod SA, Brummel S, Gillen DL, Lindor N, Fredericksen Z, Pankratz VS, Couch FJ, Radice P, Peterlongo P, Greene MH, Loud JT, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Gerdes AM, Thomassen M, Jensen UB, Skytte AB, Caligo MA, Lee A, Chenevix-Trench G, Antoniou AC, Neuhausen SL; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Cancer Epidemiol Biomarkers Prev. 2012 Aug;21(8):1362-70. Epub 2012 Jun 22. Erratum in: Cancer Epidemiol Biomarkers Prev. 2012 Dec;21(12):2278.

15.

Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study.

Iofrida C, Melissari E, Mariotti V, Guglielmi C, Guidugli L, Caligo MA, Pellegrini S.

BMC Cancer. 2012 May 30;12:207. doi: 10.1186/1471-2407-12-207.

16.

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.

Maia AT, Antoniou AC, O'Reilly M, Samarajiwa S, Dunning M, Kartsonaki C, Chin SF, Curtis CN, McGuffog L, Domchek SM; EMBRACE, Easton DF, Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Eccles D; GEMO Study Collaborators, Sinilnikova OM, Mazoyer S, Stoppa-Lyonnet D, Gauthier-Villars M, Faivre L, Venat-Bouvet L, Delnatte C, Nevanlinna H, Couch FJ, Godwin AK, Caligo MA; SWE-BRCA, Barkardottir RB; kConFab Investigators, Chen X, Beesley J, Healey S, Caldas C, Chenevix-Trench G, Ponder BA.

Breast Cancer Res. 2012 Apr 18;14(2):R63.

17.

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.

Gynecol Oncol. 2012 Jun;125(3):687-92. doi: 10.1016/j.ygyno.2012.03.007. Epub 2012 Mar 13.

PMID:
22425665
18.

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.

Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.

19.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowowcka-Perłowska E, Osorio A, Durán M, Andrés R, Benítez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gómez Garcia EB, Ligtenberg MJ, Kriege M, Collée JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Léoné M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teulé A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lespérance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF; CIMBA, SWE-BRCA; HEBON; EMBRACE; GEMO Collaborators Study; kConFab Investigators.

Breast Cancer Res. 2012 Feb 20;14(1):R33.

20.

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B; SWE-BRCA, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collée JM, Kriege M, van der Luijt RB; HEBON; EMBRACE, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Léoné M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C; GEMO, Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Pfeiler G, Fink-Retter A, Hansen Tv, Ejlertsen B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte M, Phillips KA, Van Le L, Hoffman JS, Ewart Toland A, Montagna M, Tognazzo S, Imyanitov E, Issacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M, Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Plante M, Spurdle AB; kConFab, Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Hum Mutat. 2012 Apr;33(4):690-702. doi: 10.1002/humu.22025. Epub 2012 Feb 14.

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