Hereditary breast cancer: Ever more pieces to the polygenic puzzle

Hereditary Cancer in Clinical Practice

Volumn 11, Issue 1, 2013, Pages

  Bogdanova, Natalia ^a   Helbig, Sonja ^a   Dörk, Thilo ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Breast carcinoma; Chromosomal instability; Germ line mutations

Indexed keywords

DOUBLE STRANDED DNA;

ATAXIA TELANGIECTASIA; BREAST CARCINOMA; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; CELL CYCLE REGULATION; CLINICAL PRACTICE; COWDEN SYNDROME; CROSS LINKING; FAMILIAL CANCER; FAMILY HISTORY; FANCONI ANEMIA; FOLLOW UP; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HOMOLOGOUS RECOMBINATION; HUMAN; MALE BREAST CANCER; MISSENSE MUTATION; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY CANCER; PANCREAS CANCER; PENETRANCE; PEUTZ JEGHERS SYNDROME; PHENOTYPE; POPULATION RISK; PROSTATE CANCER; RECOMBINATION REPAIR; RECURRENCE RISK; REVIEW; RING FINGER MOTIF; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN CANCER; TRIPLE NEGATIVE BREAST CANCER; TUMOR SUPPRESSOR GENE;

EID: 84883625609     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-11-12     Document Type: Review

References (158)

1. Vakil NV, Morgan RW. Etiology of breast cancer. I. Genetic aspects. CMA Journal 1973, 109:29-32.
2. Broca P. Traité des tumeurs I. Tome premier de tumeur en générale 1866, 150-153. Paris: Faculté de Médicine.
3. Warthin AS. Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913. Arch Intern Med 1913, 12:546-555.
4. Malkin D. Li-Fraumeni syndrome. Genes Cancer 2011, 2:475-484. 10.1177/1947601911413466, 3135649, 21779515.
5. Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, Friend SH. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990, 250:1233-1238. 10.1126/science.1978757, 1978757.
6. Srivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 1990, 348:747-749. 10.1038/348747a0, 2259385.
7. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266:66-71. 10.1126/science.7545954, 7545954.
8. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995, 378:789-792. 10.1038/378789a0, 8524414.
9. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012, 18:400-407. 10.1158/1078-0432.CCR-11-2283, 3261579, 22252256.
10. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F, French Cowden Disease Network High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013, 50:255-263. 10.1136/jmedgenet-2012-101339, 23335809, French Cowden Disease Network.
11. Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 2003, 89:308-313. 10.1038/sj.bjc.6601030, 2394252, 12865922.
12. van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 2010, 105:1258-1264. 10.1038/ajg.2009.725, 20051941.
13. Win AK, Lindor NM, Jenkins MA. Risk of breast cancer in Lynch syndrome: a systematic review. Breast Cancer Res 2013, 15:R27. 10.1186/bcr3405, 3672741, 23510156.
14. German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 1997, 93:100-106. 10.1016/S0165-4608(96)00336-6, 9062585.
15. Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM. Lymphoid tumours and breast cancer in ataxia telangiectasia, substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer 2011, 105:586-591. 10.1038/bjc.2011.266, 3170966, 21792198.
16. Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, Harris LN, Pinheiro HC, Troussard A, Miron P, Tung N, Oliveira C, Collins L, Schnitt S, Garber JE, Huntsman D. Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet 2007, 44:726-731. 10.1136/jmg.2007.051268, 2752184, 17660459.
17. Xie ZM, Li LS, Laquet C, Penault-Llorca F, Uhrhammer N, Xie XM, Bignon YJ. Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 2011, 117:3112-3117. 10.1002/cncr.25876, 21271559.
18. Turnbull C, Rahman N. Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet 2008, 9:321-345. 10.1146/annurev.genom.9.081307.164339, 18544032.
19. Ghoussaini M, Pharoah PD. Polygenic susceptibility to breast cancer: current state-of-the-art. Future Oncol 2009, 5:689-701. 10.2217/fon.09.29, 19519208.
20. Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol 2010, 4:174-191. 10.1016/j.molonc.2010.04.011, 20542480.
21. Shuen AY, Foulkes WD. Inherited mutations in breast cancer genes-risk and response. J Mammary Gland Biol Neoplasia 2011, 16:3-15. 10.1007/s10911-011-9213-5, 21461995.
22. Foulkes WD. Inherited susceptibility to common cancers. N Engl J Med 2008, 359:2143-2153. 10.1056/NEJMra0802968, 19005198.
23. Domchek SM, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro AN, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, Greenberg RA. Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer. Cancer Discov 2013, Epub ahead of print.
24. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002, 297:606-609. 10.1126/science.1073834, 12065746.
25. Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL. Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res 2008, 14:4667-4671. 10.1158/1078-0432.CCR-08-0210, 18628482.
26. Teo ZL, Park DJ, Provenzano E, Chatfield CA, Odefrey FA, Nguyen-Dumont T, Confab K, Dowty JG, Hopper JL, Winship I, Goldgar DE, Southey MC. Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. Breast Cancer Res 2013, 15:R17. Epub ahead of print, 10.1186/bcr3392, 3672826, 23448497.
27. Nikkilä J, Coleman KA, Morrissey D, Pylkäs K, Erkko H, Messick TE, Karppinen SM, Amelina A, Winqvist R, Greenberg RA. Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function. Oncogene 2009, 28:1843-1852. 10.1038/onc.2009.33, 2692655, 19305427.
28. Solyom S, Aressy B, Pylkäs K, Patterson-Fortin J, Hartikainen JM, Kallioniemi A, Kauppila S, Nikkilä J, Kosma VM, Mannermaa A, Greenberg RA, Winqvist R. Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. Sci Transl Med 2012, 4:122ra23. 10.1126/scitranslmed.3003223, 22357538.
29. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010, 42:410-414. 10.1038/ng.569, 20400964.
30. Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomäki K, Bützow R, Nevanlinna H. RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 2011, 20:3278-3288. 10.1093/hmg/ddr229, 21616938.
31. Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N, Breast Cancer Susceptibility Collaboration (UK) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 2011, 43:879-882. 10.1038/ng.893, 21822267, Breast Cancer Susceptibility Collaboration (UK).
32. Pelttari LM, Kiiski J, Nurminen R, Kallioniemi A, Schleutker J, Gylfe A, Aaltonen LA, Leminen A, Heikkilä P, Blomqvist C, Bützow R, Aittomäki K, Nevanlinna H. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer. J Med Genet 2012, 49:429-432. 10.1136/jmedgenet-2012-100852, 22652533.
33. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N, Breast Cancer Susceptibility Collaboration (UK) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006, 38:1239-1241. 10.1038/ng1902, 17033622, Breast Cancer Susceptibility Collaboration (UK).
34. Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, Besenbacher S, Lundin P, Stacey SN, Gudmundsson J, Magnusson OT, le Roux L, Orlygsdottir G, Helgadottir HT, Johannsdottir H, Gylfason A, Tryggvadottir L, Jonasson JG, de Juan A, Ortega E, Ramon-Cajal JM, García-Prats MD, Mayordomo C, Panadero A, Rivera F, Aben KK, van Altena AM, Massuger LF, Aavikko M, Kujala PM, Staff S, Aaltonen LA, Olafsdottir K, Bjornsson J, Kong A, Salvarsdottir A, Saemundsson H, Olafsson K, Benediktsdottir KR, Gulcher J, Masson G, Kiemeney LA, Mayordomo JI, Thorsteinsdottir U, Stefansson K. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet 2011, 43:1104-1107. 10.1038/ng.955, 21964575.
35. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 1987, 316:1289-1294. 10.1056/NEJM198705213162101, 3574400.
36. Shiloh Y, Ziv Y. The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol 2013, 14:197-210. 10.1038/nrm3546, 23847781.
37. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N, Breast Cancer Susceptibility Collaboration (UK) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006, 38:873-875. 10.1038/ng1837, 16832357, Breast Cancer Susceptibility Collaboration (UK).
38. Pylkäs K, Tommiska J, Syrjäkoski K, Kere J, Gatei M, Waddell N, Allinen M, Karppinen SM, Rapakko K, Kääriäinen H, Aittomäki K, Blomqvist C, Mustonen A, Holli K, Khanna KK, Kallioniemi OP, Nevanlinna H, Winqvist R. Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. Carcinogenesis 2007, 28:1040-1045.
39. Bogdanova N, Cybulski C, Bermisheva M, Datsyuk I, Yamini P, Hillemanns P, Antonenkova NN, Khusnutdinova E, Lubinski J, Dörk T. A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res Treat 2009, 118:207-211. 10.1007/s10549-008-0189-9, 18807267.
40. Bartkova J, Tommiska J, Oplustilova L, Aaltonen K, Tamminen A, Heikkinen T, Mistrik M, Aittomäki K, Blomqvist C, Heikkilä P, Lukas J, Nevanlinna H, Bartek J. Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Mol Oncol 2008, 2:296-316. 10.1016/j.molonc.2008.09.007, 19383352.
41. Górski B, Cybulski C, Huzarski T, Byrski T, Gronwald J, Jakubowska A, Stawicka M, Gozdecka-Grodecka S, Szwiec M, Urbański K, Mituś J, Marczyk E, Dziuba J, Wandzel P, Surdyka D, Haus O, Janiszewska H, Debniak T, Tołoczko-Grabarek A, Medrek K, Masojć B, Mierzejewski M, Kowalska E, Narod SA, Lubiński J. Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 2005, 92:19-24. 10.1007/s10549-005-1409-1, 15980987.
42. Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M, Wisniewska A, Paszko Z. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 2006, 119:472-475. 10.1002/ijc.21853, 16770759.
43. Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Varon R, Dörk T. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer 2008, 122:802-806. 10.1002/ijc.23168, 17957789.
44. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundán T, Mannermaa A, Børresen-Dale AL, Borg A, Barkardottir RB, Petrini J, Winqvist R. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006, 27:1593-1599. 3006189, 16474176.
45. Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV, Mitiushkina NV, Abysheva SN, Suspitsin EN, Kuligina ES, Gorodnova TV, Pfeifer W, Togo AV, Turkevich EA, Ivantsov AO, Voskresenskiy DV, Dolmatov GD, Bit-Sava EM, Matsko DE, Semiglazov VF, Fichtner I, Larionov AA, Kuznetsov SG, Antoniou AC, Imyanitov EN. High prevalence and breast cancer predisposing role of the BLM c.1642 C > T (Q548X) mutation in Russia. Int J Cancer 2012, 130:2867-2873. 10.1002/ijc.26342, 21815139.
46. Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 2013, 137:533-539. 10.1007/s10549-012-2357-1, 23225144.
47. Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG, kConFab Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 2012, 8:e1002894. 10.1371/journal.pgen.1002894, 3459953, 23028338, kConFab.
48. Berwick M, Satagopan JM, Ben-Porat L, Carlson A, Mah K, Henry R, Diotti R, Milton K, Pujara K, Landers T, Dev Batish S, Morales J, Schindler D, Hanenberg H, Hromas R, Levran O, Auerbach AD. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 2007, 67:9591-9596. 10.1158/0008-5472.CAN-07-1501, 3622247, 17909071.
49. Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One 2013, 8:e55681. 10.1371/journal.pone.0055681, 3568132, 23409019.
50. Bakker JL, van Mil SE, Crossan G, Sabbaghian N, De Leeneer K, Poppe B, Adank M, Gille H, Verheul H, Meijers-Heijboer H, de Winter JP, Claes K, Tischkowitz M, Waisfisz Q. Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. Hum Mutat 2013, 34:70-73. 10.1002/humu.22206, 22911665.
51. Shah S, Kim Y, Ostrovnaya I, Murali R, Schrader KA, Lach FP, Sarrel K, Rau-Murthy R, Hansen N, Zhang L, Kirchhoff T, Stadler Z, Robson M, Vijai J, Offit K, Smogorzewska A. Assessment of SLX4 Mutations in Hereditary Breast Cancers. PLoS One 2013, 8:e66961. 10.1371/journal.pone.0066961, 3694110, 23840564.
52. Hilbers FS, Wijnen JT, Hoogerbrugge N, Oosterwijk JC, Collee MJ, Peterlongo P, Radice P, Manoukian S, Feroce I, Capra F, Couch FJ, Wang X, Guidugli L, Offit K, Shah S, Campbell IG, Thompson ER, James PA, Trainer AH, Gracia J, Benitez J, van Asperen CJ, Devilee P. Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet 2012, 49:618-620. 10.1136/jmedgenet-2012-101191, 23054243.
53. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR. CHEK2-Breast Cancer Consortium, Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002, 31:55-59. 10.1038/ng879, 11967536.
54. Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002, 71:432-438. 10.1086/341943, 379177, 12094328.
55. CHEK2 Breast Cancer Case-control Consortium CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 2004, 74:1175-1182. 1182081, 15122511, CHEK2 Breast Cancer Case-control Consortium.
56. Adank MA, Jonker MA, Kluijt I, van Mil SE, Oldenburg RA, Mooi WJ, Hogervorst FB, van den Ouweland AM, Gille JJ, Schmidt MK, van der Vaart AW, Meijers-Heijboer H, Waisfisz Q. CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet 2011, 48:860-863. 10.1136/jmedgenet-2011-100380, 22058428.
57. Cybulski C, Wokołorczyk D, Huzarski T, Byrski T, Gronwald J, Górski B, Debniak T, Masojć B, Jakubowska A, van de Wetering T, Narod SA, Lubiński J. A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat 2007, 102:119-122. 10.1007/s10549-006-9320-y, 16897426.
58. Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S, Lazjuk GI, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Dörk T. Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer 2005, 116:263-266. 10.1002/ijc.21022, 15810020.
59. Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013, 493:406-410. 3759028, 23242139.
60. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003, 72:1117-1130. 10.1086/375033, 1180265, 12677558.
61. King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302:643-646. 10.1126/science.1088759, 14576434, New York Breast Cancer Study Group.
62. Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 2007, 7:937-948. 10.1038/nrc2054, 18034184.
63. Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L, Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Rebbeck TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Górski B, , et al. Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO) RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 2007, 81:1186-1200. 10.1086/522611, 2276351, 17999359, Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO).
64. Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Stenmark Askmalm M, Borg A, , et al. OCGN Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2011, 103:105-116. 10.1093/jnci/djq494, 3107565, 21169536, OCGN.
65. Rebbeck TR, Mitra N, Domchek SM, Wan F, Friebel TM, Tran TV, Singer CF, Tea MK, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder CL, Garber JE, Antoniou AC, Peock S, Evans DG, Paterson J, Kennedy MJ, Donaldson A, Dorkins H, Easton DF, Rubinstein WS, Daly MB, Isaacs C, Nevanlinna H, Couch FJ, Andrulis IL, Freidman E, Laitman Y, Ganz PA, Tomlinson GE, Neuhausen SL, Narod SA, Phelan CM, Greenberg R, Nathanson KL, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE) Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. Cancer Res 2011, 71:5792-5805. 10.1158/0008-5472.CAN-11-0773, 3170727,3170727, 21799032, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE).
66. Roy R, Chun J, Powell SN. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer 2011, 12:68-78. 10.1038/nrc3181, 22193408.
67. Tischkowitz MD, Foulkes WD. The basal phenotype of BRCA1-related breast cancer: past, present and future. Cell Cycle 2006, 5:963-7. 10.4161/cc.5.9.2713, 16687925.
68. Thompson D, Easton D, Breast Cancer Linkage Consortium Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001, 68:410-419. 10.1086/318181, 1235274, 11170890, Breast Cancer Linkage Consortium.
69. Thompson D, Easton D, Breast Cancer Linkage Consortium Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 2002, 11:329-336. Breast Cancer Linkage Consortium.
70. Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Hillemanns P, Dörk T. High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. Clin Genet 2010, 78:364-372. 10.1111/j.1399-0004.2010.01473.x, 20569256.
71. Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A, Caputo S, Sinilnikova OM, Lidereau R, Couch FJ, Guidugli L, Hansen T, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg A, Vreeswijk MP, Goldgar DE, kConFab BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet 2012, 49:525-532. 10.1136/jmedgenet-2012-101037, 22889855, kConFab.
72. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, , et al. Breast and Ovarian Cancer Susceptibility Collaboration Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013, 45:353-361. 10.1038/ng.2563, 23535729, Breast and Ovarian Cancer Susceptibility Collaboration.
73. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR, Breast Cancer Susceptibility Collaboration (UK) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007, 39:165-167. 10.1038/ng1959, 2871593, 17200668, Breast Cancer Susceptibility Collaboration (UK).
74. Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007, 446:316-319. 10.1038/nature05609, 17287723.
75. Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, Derlatka P, Cendrowski K, Kupryjanczyk J. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet 2010, 11:20. 2829009, 20122277.
76. Prokofyeva D, Bogdanova N, Bermisheva M, Zinnatullina G, Hillemanns P, Khusnutdinova E, Dörk T. Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region. Clin Genet 2012, 82:100-101. 10.1111/j.1399-0004.2011.01824.x, 22310028.
77. Huen MS, Sy SM, Chen J. BRCA1 and its toolbox for the maintenance of genome integrity. Nat Rev Mol Cell Biol 2010, 11:138-148. 10.1038/nrm2831, 20029420.
78. Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, Lesueur F. RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study. PLoS One 2012, 7:e52374. 10.1371/journal.pone.0052374, 3531476, 23300655.
79. Bell DW, Wahrer DC, Kang DH, MacMahon MS, FitzGerald MG, Ishioka C, Isselbacher KJ, Krainer M, Haber DA. Common nonsense mutations in RAD52. Cancer Res 1999, 59:3883-3888.
80. Han J, Hankinson SE, De Vivo I, Colditz GA, Hunter DJ. No association between a stop codon polymorphism in RAD52 and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2002, 11:1138-1139.
81. Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K. Mutations in the RAD54 recombination gene in primary cancers. Oncogene 1999, 18:3427-3430. 10.1038/sj.onc.1202692, 10362365.
82. Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC, Breast Cancer Family Registry, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 2012, 90:734-739. 10.1016/j.ajhg.2012.02.027, 3322233, 22464251, Breast Cancer Family Registry, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer.
83. Seal S, Barfoot R, Jayatilake H, Smith P, Renwick A, Bascombe L, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N, Breast Cancer Susceptibility Collaboration Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res 2003, 63:8596-8599. Breast Cancer Susceptibility Collaboration.
84. de Garibay GR, Díaz A, Gaviña B, Romero A, Garre P, Vega A, Blanco A, Tosar A, Díez O, Pérez-Segura P, Díaz-Rubio E, Caldés T, de la Hoya M. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. Eur J Hum Genet 2013, 21:883-886. 10.1038/ejhg.2012.268, 23211700.
85. Williams GJ, Lees-Miller SP, Tainer JA. Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks. DNA Repair 2010, 9:1299-1306. 10.1016/j.dnarep.2010.10.001, 3008338, 21035407.
86. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998, 93:467-476. 10.1016/S0092-8674(00)81174-5, 9590180.
87. Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 2009, 84:605-616. 10.1016/j.ajhg.2009.04.010, 2681000, 19409520.
88. Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999, 99:577-587. 10.1016/S0092-8674(00)81547-0, 10612394.
89. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011, 108:18032-18037. 10.1073/pnas.1115052108, 3207658, 22006311.
90. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995, 83:655-666. 10.1016/0092-8674(95)90105-1, 7585968.
91. German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat 2007, 28:743-753. 10.1002/humu.20501, 17407155.
92. Nevanlinna H, Bartek J. The CHEK2 gene and inherited breast cancer susceptibility. Oncogene 2006, 25:5912-5919. 10.1038/sj.onc.1209877, 16998506.
93. Cybulski C, Górski B, Huzarski T, Masojć B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymańska A, Szymańska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubiński J. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 2004, 75:1131-1135. 10.1086/426403, 1182149, 15492928.
94. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002, 31:33-36. 10.1038/ng853, 11984562.
95. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, , et al. SEARCH collaborators Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007, 447:1087-1093. 10.1038/nature05887, 2714974, 17529967, SEARCH collaborators.
96. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF, Hoover RN, Thomas G, Chanock SJ. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007, 39:870-874. 10.1038/ng2075, 3493132, 17529973.
97. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, Aben KK, Strobbe LJ, Albers-Akkers MT, Swinkels DW, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Godino J, Garcia-Prats MD, Polo E, Tres A, Mouy M, Saemundsdottir J, Backman VM, Gudmundsson L, Kristjansson K, Bergthorsson JT, Kostic J, Frigge ML, Geller F, Gudbjartsson D, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007, 39:865-869. 10.1038/ng2064, 17529974.
98. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG, Fletcher O, Johnson N, Peto J, Stratton MR, Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, Dörk T, Schürmann P, Hillemanns P, Karstens JH, Bogdanova NV, Antonenkova NN, Zalutsky IV, Bermisheva M, Fedorova S, Khusnutdinova E, Kang D, , et al. dos Santos Silva I Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 2009, 41:585-590. 10.1038/ng.354, 2748125, 19330027, dos Santos Silva I.
99. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, Hankinson SE, Hutchinson A, Wang Z, Yu K, Chatterjee N, Garcia-Closas M, Gonzalez-Bosquet J, Prokunina-Olsson L, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver R, Prentice R, Jackson R, Kooperberg C, Chlebowski R, Lissowska J, Peplonska B, Brinton LA, Sigurdson A, Doody M, Bhatti P, Alexander BH, Buring J, Lee IM, Vatten LJ, Hveem K, Kumle M, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF, Hoover RN, Chanock SJ, Hunter DJ. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 2009, 41:579-584. 10.1038/ng.353, 2928646, 19330030.
100. Zheng W, Long J, Gao YT, Li C, Zheng Y, Xiang YB, Wen W, Levy S, Deming SL, Haines JL, Gu K, Fair AM, Cai Q, Lu W, Shu XO. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 2009, 41:324-328. 10.1038/ng.318, 2754845, 19219042.
101. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, Seal S, Ghoussaini M, Hines S, Healey CS, Hughes D, Warren-Perry M, Tapper W, Eccles D, Evans DG, Hooning M, Schutte M, van den Ouweland A, Houlston R, Ross G, Langford C, Pharoah PD, Stratton MR, Dunning AM, Rahman N, Easton DF, Breast Cancer Susceptibility Collaboration (UK) Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 2010, 42:504-507. 10.1038/ng.586, 3632836, 20453838, Breast Cancer Susceptibility Collaboration (UK).
102. Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P, Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB, , et al. EMBRACE A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 2010, 42:885-892. 10.1038/ng.669, 3130795, 20852631, EMBRACE.
103. Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, Walker K, Zelenika D, Gut I, Heath S, Palles C, Coupland B, Broderick P, Schoemaker M, Jones M, Williamson J, Chilcott-Burns S, Tomczyk K, Simpson G, Jacobs KB, Chanock SJ, Hunter DJ, Tomlinson IP, Swerdlow A, Ashworth A, Ross G, Lathrop M, Houlston RS, Peto J, os Santos Silva I Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst 2011, 103:425-435. 10.1093/jnci/djq563, 21263130, os Santos Silva I.
104. Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, et al. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet 2011, 43:1210-1214. 10.1038/ng.985, 3279120, 22037553.
105. Sehrawat B, Sridharan M, Ghosh S, Robson P, Cass CE, Mackey JR, Greiner R, Damaraju S. Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. Hum Genet 2011, 130:529-537. 10.1007/s00439-011-0973-1, 3178778, 21424380.
106. Cai Q, Long J, Lu W, Qu S, Wen W, Kang D, Lee JY, Chen K, Shen H, Shen CY, Sung H, Matsuo K, Haiman CA, Khoo US, Ren Z, Iwasaki M, Gu K, Xiang YB, Choi JY, Park SK, Zhang L, Hu Z, Wu PE, Noh DY, Tajima K, Henderson BE, Chan KY, Su F, Kasuga Y, Wang W, Cheng JR, Yoo KY, Lee JY, Zheng H, Liu Y, Shieh YL, Kim SW, Lee JW, Iwata H, Le Marchand L, Chan SY, Xie X, Tsugane S, Lee MH, Wang S, Li G, Levy S, Huang B, Shi J, Delahanty R, Zheng Y, Li C, Gao YT, Shu XO, Zheng W. Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium. Hum Mol Genet 2011, 20:4991-4999. 10.1093/hmg/ddr405, 3221542, 21908515.
107. Long J, Cai Q, Sung H, Shi J, Zhang B, Choi JY, Wen W, Delahanty RJ, Lu W, Gao YT, Shen H, Park SK, Chen K, Shen CY, Ren Z, Haiman CA, Matsuo K, Kim MK, Khoo US, Iwasaki M, Zheng Y, Xiang YB, Gu K, Rothman N, Wang W, Hu Z, Liu Y, Yoo KY, Noh DY, Han BG, Lee MH, Zheng H, Zhang L, Wu PE, Shieh YL, Chan SY, Wang S, Xie X, Kim SW, Henderson BE, Le Marchand L, Ito H, Kasuga Y, Ahn SH, Kang HS, Chan KY, Iwata H, Tsugane S, Li C, Shu XO, Kang DH, Zheng W. Genome-wide association study in East Asians identifies novel susceptibility loci for breast cancer. PLoS Genet 2012, 8:e1002532. 10.1371/journal.pgen.1002532, 3285588, 22383897.
108. Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Driver K, Johnson N, Orr N, Dos Santos Silva I, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Hall P, Czene K, Irwanto A, Liu J, Nevanlinna H, Aittomäki K, Blomqvist C, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Chang-Claude J, Hein R, Nickels S, Flesch-Janys D, , et al. Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 2012, 44:312-318. 10.1038/ng.1049, 3653403, 22267197, Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON).
109. Siddiq A, Couch FJ, Chen GK, Lindström S, Eccles D, Millikan RC, Michailidou K, Stram DO, Beckmann L, Rhie SK, Ambrosone CB, Aittomäki K, Amiano P, Apicella C, Baglietto L, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Brauch H, Brinton L, Bui QM, Buring JE, Buys SS, Campa D, Carpenter JE, Chasman DI, Chang-Claude J, , et al. Australian Breast Cancer Tissue Bank Investigators A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet 2012, 21:5373-5384. 10.1093/hmg/dds381, 22976474, Australian Breast Cancer Tissue Bank Investigators.
110. Kim HC, Lee JY, Sung H, Choi JY, Park SK, Lee KM, Kim YJ, Go MJ, Li L, Cho YS, Park M, Kim DJ, Oh JH, Kim JW, Jeon JP, Jeon SY, Min H, Kim HM, Park J, Yoo KY, Noh DY, Ahn SH, Lee MH, Kim SW, Lee JW, Park BW, Park WY, Kim EH, Kim MK, Han W, Lee SA, Matsuo K, Shen CY, Wu PE, Hsiung CN, Lee JY, Kim HL, Han BG, Kang D. A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. Breast Cancer Res 2012, 14:R56. 10.1186/bcr3158, 3446390, 22452962.
111. Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, Johnson N, Lord CJ, Mitsopoulos C, Zvelebil M, McDade SS, Buck G, Blancher C, KConFab C, Trainer AH, James PA, Bojesen SE, Bokmand S, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Giannini G, Hollestelle A, Ouweland AM, Novaković S, Krajc M, et al. Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. Nat Genet 2012, 44:1182-1184. 10.1038/ng.2417, 3722904, 23001122.
112. Elgazzar S, Zembutsu H, Takahashi A, Kubo M, Aki F, Hirata K, Takatsuka Y, Okazaki M, Ohsumi S, Yamakawa T, Sasa M, Katagiri T, Miki Y, Nakamura Y. A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese. J Hum Genet 2012, 57:766-771. 10.1038/jhg.2012.108, 22951594.
113. Chen F, Chen GK, Stram DO, Millikan RC, Ambrosone CB, John EM, Bernstein L, Zheng W, Palmer JR, Hu JJ, Rebbeck TR, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Press MF, Ruiz-Narvaez EA, Deming SL, Rodriguez-Gil JL, Demichele A, Chanock SJ, Blot W, Signorello L, Cai Q, Li G, Long J, Huo D, Zheng Y, Cox NJ, Olopade OI, Ogundiran TO, et al. A genome-wide association study of breast cancer in women of African ancestry. Hum Genet 2013, 132:39-48. 10.1007/s00439-012-1214-y, 22923054.
114. Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet 2013, 45:371-384. 10.1038/ng.2566, 23535731.
115. Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK, Brook MN, Orr N, Rhie SK, Riboli E, Feigelson HS, Le Marchand L, Buring JE, Eccles D, Miron P, Fasching PA, Brauch H, Chang-Claude J, Carpenter J, Godwin AK, Nevanlinna H, Giles GG, Cox A, Hopper JL, Bolla MK, Wang Q, Dennis J, Dicks E, Howat WJ, Schoof N, Bojesen SE, et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet 2013, 45:392-398. 10.1038/ng.2561, 23535733.
116. French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, et al. Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers. Am J Hum Genet 2013, 92:489-503. 10.1016/j.ajhg.2013.01.002, 23540573.
117. 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, Investigators K, Radice P, Schmutzler RK SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, et al. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk. PLoS Genet 2013, 9:e1003212. 10.1371/journal.pgen.1003212, 3609646, 23544013.
118. Gaudet MM, Kuchenbäcker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M, , et al. KConFab Investigators Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk. PLoS Genet 2013, 9:e1003173. 10.1371/journal.pgen.1003173, 3609647, 23544012, KConFab Investigators.
119. Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, Apicella C, Hammet F, Schmidt MK, Broeks A, Tollenaar RA, Van't Veer LJ, Fasching PA, Beckmann MW, Ekici AB, Strick R, Peto J, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Bojesen S, Flyger H, Nordestgaard BG, , et al. dos Santos Silva I Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011, 20:4693-4706. 10.1093/hmg/ddr368, 3209823, 21852249, dos Santos Silva I.
120. Jiang Y, Shen H, Liu X, Dai J, Jin G, Qin Z, Chen J, Wang S, Wang X, Hu Z, Shen H. Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women. PLoS One 2011, 6:e21563. 10.1371/journal.pone.0021563, 3124527, 21738711.
121. Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, , et al. dos Santos Silva I Breast Cancer Association Consortium: A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007, 39:352-358. 10.1038/ng1981, 17293864, dos Santos Silva I.
122. Camp NJ, Parry M, Knight S, Abo R, Elliott G, Rigas SH, Balasubramanian SP, Reed MW, McBurney H, Latif A, Newman WG, Cannon-Albright LA, Evans DG, Cox A. Fine-mapping CASP8 risk variants in breast cancer. Cancer Epidemiol Biomarkers Prev 2012, 21:176-181. 10.1158/1055-9965.EPI-11-0845, 3253962,3253962, 22056502.
123. Milne RL, Benítez J, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Arias JI, Zamora MP, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schürmann P, Bremer M, Hillemanns P, Dörk T, Devilee P, van Asperen CJ, , et al. Breast Cancer Association Consortium Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst 2009, 101:1012-1018. 10.1093/jnci/djp167, 2724850, 19567422, Breast Cancer Association Consortium.
124. Li J, Humphreys K, Heikkinen T, Aittomäki K, Blomqvist C, Pharoah PD, Dunning AM, Ahmed S, Hooning MJ, Martens JW, van den Ouweland AM, Alfredsson L, Palotie A, Peltonen-Palotie L, Irwanto A, Low HQ, Teoh GH, Thalamuthu A, Easton DF, Nevanlinna H, Liu J, Czene K, Hall P. A combined analysis of genome-wide association studies in breast cancer. Breast Cancer Res Treat 2011, 126:717-727. 10.1007/s10549-010-1172-9, 20872241.
125. Stacey SN, Sulem P, Zanon C, Gudjonsson SA, Thorleifsson G, Helgason A, Jonasdottir A, Besenbacher S, Kostic JP, Fackenthal JD, Huo D, Adebamowo C, Ogundiran T, Olson JE, Fredericksen ZS, Wang X, Look MP, Sieuwerts AM, Martens JW, Pajares I, Garcia-Prats MD, Ramon-Cajal JM, de Juan A, Panadero A, Ortega E, Aben KK, Vermeulen SH, Asadzadeh F, van Engelenburg KC, Margolin S, Shen CY, et al. Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet 2010, 6:e1001029. 10.1371/journal.pgen.1001029, 2908678, 20661439.
126. Han J, Jiang T, Bai H, Gu H, Dong J, Ma H, Hu Z, Shen H. Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population. Breast Cancer Res Treat 2011, 129:901-907. 10.1007/s10549-011-1527-x, 21528353.
127. Hein R, Maranian M, Hopper JL, Kapuscinski MK, Southey MC, Park DJ, Schmidt MK, Broeks A, Hogervorst FB, Bueno-de-Mesquita HB, Muir KR, Lophatananon A, Rattanamongkongul S, Puttawibul P, Fasching PA, Hein A, Ekici AB, Beckmann MW, Fletcher O, Johnson N, Peto J, Sawyer E, Tomlinson I, Kerin M, Miller N, Marmee F, Schneeweiss A, Sohn C, Burwinkel B, , et al. dos Santos Silva I Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC). PLoS One 2012, 7:e42380. 10.1371/journal.pone.0042380, 3413660, 22879957, dos Santos Silva I.
128. Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, Frigge ML, Gylfason A, Olason PI, Gudjonsson SA, Sverrisson S, Stacey SN, Sigurgeirsson B, Benediktsdottir KR, Sigurdsson H, Jonsson T, Benediktsson R, Olafsson JH, Johannsson OT, Hreidarsson AB, Sigurdsson G, Ferguson-Smith AC, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K, DIAGRAM Consortium Parental origin of sequence variants associated with complex diseases. Nature 2009, 462:868-874. 10.1038/nature08625, 3746295, 20016592, DIAGRAM Consortium.
129. Stevens KN, Fredericksen Z, Vachon CM, Wang X, Margolin S, Lindblom A, Nevanlinna H, Greco D, Aittomäki K, Blomqvist C, Chang-Claude J, Vrieling A, Flesch-Janys D, Sinn HP, Wang-Gohrke S, Nickels S, Brauch H, Network GENICA, Ko YD, Fischer HP, Schmutzler RK, Meindl A, Bartram CR, Schott S, Engel C, Godwin AK, Weaver J, Pathak HB, Sharma P, Brenner H, et al. 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res 2012, 72:1795-1803. 10.1158/0008-5472.CAN-11-3364, 3319792, 22331459.
130. Long J, Delahanty RJ, Li G, Gao YT, Lu W, Cai Q, Xiang YB, Li C, Ji BT, Zheng Y, Ali S, Shu XO, Zheng W. A Common Deletion in the APOBEC3 Genes and Breast Cancer Risk. J Natl Cancer Inst 2013, 105:573-579. 10.1093/jnci/djt018, 23411593.
131. Meyer KB, Maia AT, O'Reilly M, Teschendorff AE, Chin SF, Caldas C, Ponder BA. Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol 2008, 6:e108. 10.1371/journal.pbio.0060108, 2365982, 18462018.
132. Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C, Hogervorst FB, Hooning MJ, Ligtenberg MJ, Spurdle A, Chenevix-Trench G, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, , et al. EMBRACE Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 2010, 19:2886-2897. 10.1093/hmg/ddq174, 2893806, 20418484, EMBRACE.
133. Sakoda LC, Jorgensen E, Witte JS. Turning of COGS moves forward findings for hormonally mediated cancers. Nat Genet 2013, 45:345-348. 10.1038/ng.2587, 23535722.
134. Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 2010, 42:880-884. 10.1038/ng.666, 3125495, 20852633.
135. Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver KE, Pooley KA, Ramus SJ, Kjaer SK, Hogdall E, DiCioccio RA, Whittemore AS, Gayther SA, Giles GG, Guy M, Edwards SM, Morrison J, Donovan JL, Hamdy FC, Dearnaley DP, Ardern-Jones AT, Hall AL, O'Brien LT, Gehr-Swain BN, Wilkinson RA, Brown PM, Hopper JL, Neal DE, Pharoah PD, Ponder BA, Eeles RA, Easton DF, Dunning AM, UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, UK ProtecT Study Collaborators Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst 2008, 100:962-966. 10.1093/jnci/djn190, 2902819, 18577746, UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, UK ProtecT Study Collaborators.
136. Network CGA. Comprehensive molecular portraits of human breast tumours. Nature 2012, 490:61-70. 10.1038/nature11412, 3465532, 23000897.
137. den Dekker AD, Xu X, Vaughn MD, Puckett AH, Gardner LL, Lambring CJ, Deschenes L, Samuelson DJ. Rat Mcs1b is concordant to the genome-wide association-identified breast cancer risk locus at human 5q11.2 and MIER3 is a candidate cancer susceptibility gene. Cancer Res 2012, 72:6002-6012. 10.1158/0008-5472.CAN-12-0748, 22993404.
138. Li Q, Seo JH, Stranger B, McKenna A, Pe'er I, Laframboise T, Brown M, Tyekucheva S, Freedman ML. Integrative eQTL-based analyses reveal the biology of breast cancer risk loci. Cell 2013, 152:633-641. 10.1016/j.cell.2012.12.034, 23374354.
139. Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY. Genetic variants associated with breast size also influence breast cancer risk. BMC Med Genet 2012, 13:53. 3483246, 22747683.
140. Lindström S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham NJ, Loos RJ, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, Silva Idos S, Liu J, Eriksson L, Couch FJ, Stone J, Apicella C, Czene K, Kraft P, Hall P, Easton DF, Boyd NF, Tamimi RM. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet 2011, 43:185-187. 10.1038/ng.760, 3076615, 21278746.
141. Vachon CM, Scott CG, Fasching PA, Hall P, Tamimi RM, Li J, Stone J, Apicella C, Odefrey F, Gierach GL, Jud SM, Heusinger K, Beckmann MW, Pollan M, Fernández-Navarro P, Gonzalez-Neira A, Benitez J, van Gils CH, Lokate M, Onland-Moret NC, Peeters PH, Brown J, Leyland J, Varghese JS, Easton DF, Thompson DJ, Luben RN, Warren RM, Wareham NJ, Loos RJ, et al. Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Cancer Epidemiol Biomarkers Prev 2012, 21:1156-1166. 10.1158/1055-9965.EPI-12-0066, 3569092, 22454379.
142. Wang K, Li WD, Zhang CK, Wang Z, Glessner JT, Grant SF, Zhao H, Hakonarson H, Price RA. A genome-wide association study on obesity and obesity-related traits. PLoS One 2011, 6:e18939. 10.1371/journal.pone.0018939, 3084240, 21552555.
143. Wellcome Trust Case Control Consortium Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010, 464:713-720. 10.1038/nature08979, 2892339, 20360734, Wellcome Trust Case Control Consortium.
144. Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD, Raine K, Jones D, Hinton J, Marshall J, Stebbings LA, Menzies A, Martin S, Leung K, Chen L, Leroy C, Ramakrishna M, Rance R, Lau KW, Mudie LJ, Varela I, McBride DJ, Bignell GR, Cooke SL, Shlien A, Gamble J, Whitmore I, Maddison M, Tarpey PS, Davies HR, Papaemmanuil E, Stephens PJ, , et al. Breast Cancer Working Group of the International Cancer Genome Consortium Mutational processes molding the genomes of 21 breast cancers. Cell 2012, 149:979-993. 10.1016/j.cell.2012.04.024, 3414841, 22608084, Breast Cancer Working Group of the International Cancer Genome Consortium.
145. Burns MB, Lackey L, Carpenter MA, Rathore A, Land AM, Leonard B, Refsland EW, Kotandeniya D, Tretyakova N, Nikas JB, Yee D, Temiz NA, Donohue DE, McDougle RM, Brown WL, Law EK, Harris RS. APOBEC3B is an enzymatic source of mutation in breast cancer. Nature 2013, 494:366-370. 10.1038/nature11881, 23389445.
146. Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C. Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res 2012, 14:R24. 10.1186/bcr3109, 3496142, 22314128.
147. Pylkäs K, Vuorela M, Otsukka M, Kallioniemi A, Jukkola-Vuorinen A, Winqvist R. Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network. PLoS Genet 2012, 8:e1002734. 10.1371/journal.pgen.1002734, 3380845, 22737080.
148. Pharoah PD, Antoniou AC, Easton DF, Ponder BA. Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med 2008, 358:2796-2803. 10.1056/NEJMsa0708739, 18579814.
149. Pashayan N, Duffy SW, Chowdhury S, Dent T, Burton H, Neal DE, Easton DF, Eeles R, Pharoah P. Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer 2011, 104:1656-1663. 10.1038/bjc.2011.118, 3093360,3093360, 21468051.
150. Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P. Public health implications from COGS and potential for risk stratification and screening. Nat Genet 2013, 45:349-351. 10.1038/ng.2582, 23535723.
151. Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N. BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer 2012, 106:1234-1238. 10.1038/bjc.2012.31, 3304410, 22333603.
152. Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, Apicella C, Smith LD, Hammet F, Southey MC, Veer LJ VT, de Groot R, Smit VT, Fasching PA, Beckmann MW, Jud S, Ekici AB, Hartmann A, Hein A, Schulz-Wendtland R, Burwinkel B, Marme F, Schneeweiss A, Sinn HP, Sohn C, Tchatchou S, Bojesen SE, Nordestgaard BG, Flyger H, Kaur-Knudsen D, Milne RL, , et al. Ørsted DD Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011, 20:3289-3303. 10.1093/hmg/ddr228, 3140824, 21596841, Ørsted DD.
153. Fasching PA, Pharoah PD, Cox A, Nevanlinna H, Bojesen SE, Karn T, Broeks A, van Leeuwen FE, van't Veer LJ, Udo R, Dunning AM, Greco D, Aittomäki K, Blomqvist C, Shah M, Nordestgaard BG, Flyger H, Hopper JL, Southey MC, Apicella C, Garcia-Closas M, Sherman M, Lissowska J, Seynaeve C, Huijts PE, Tollenaar RA, Ziogas A, Ekici AB, Rauh C, Mannermaa A, et al. The role of genetic breast cancer susceptibility variants as prognostic factors. Hum Mol Genet 2012, 21:3926-3939. 10.1093/hmg/dds159, 3412377, 22532573.
154. Hynes NE, Dey JH. Potential for targeting the fibroblast growth factor receptors in breast cancer. Cancer Res 2010, 70:5199-5202. 10.1158/0008-5472.CAN-10-0918, 20570901.
155. Stevens KN, Vachon CM, Couch FJ. Genetic Susceptibility to Triple-Negative Breast Cancer. Cancer Res 2013, 73:2025-2030. 10.1158/0008-5472.CAN-12-1699, 23536562.
156. Dedes KJ, Wilkerson PM, Wetterskog D, Weigelt B, Ashworth A, Reis-Filho JS. Synthetic lethality of PARP inhibition in cancers lacking BRCA1 and BRCA2 mutations. Cell Cycle 2011, 10:1192-1199. 10.4161/cc.10.8.15273, 3117132, 21487248.
157. Eich M, Ross WP, Dianov GL, Digweed M, Kaina B. Nijmegen Breakage Syndrome protein (NBN) causes resistance to methylating anticancer drugs suc as temozolomide. Mol Pharmacol 2010, 78:943-951. 10.1124/mol.110.066076, 20729302.
158. Reaper PM, Griffiths MR, Long JM, Charrier JD, Maccormick S, Charlton PA, Golec JM, Pollard JR. Selective killing of ATM- or p53-deficient cancer cells through inhibition of ATR. Nat Chem Biol 2011, 7:428-430. 10.1038/nchembio.573, 21490603.