1. PharoahPD, LipscombeJM, RedmanKL, DayNE, EastonDF, et al. (2000) Familial predisposition to breast cancer in a British population: implications for prevention. Eur J Cancer 36: 773–779.
2. MikiY, SwensenJ, Shattuck-EidensD, FutrealPA, HarshmanK, et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66–71.
3. WoosterR, BignellG, LancasterJ, SwiftS, SealS, et al. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789–792.
4. FordD, EastonDF, StrattonM, NarodS, GoldgarD, et al. (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62: 676–689.
5. MavaddatN, PharoahPD, BlowsF, DriverKE, ProvenzanoE, et al. (2010) Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. Breast Cancer Res 12: R10.
6. ThompsonD, EastonD (2004) The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 9: 221–236.
7. DomchekSM, FriebelTM, SingerCF, EvansDG, LynchHT, et al. (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304: 967–975.
8. Comino-MendezI, Gracia-AznarezFJ, SchiaviF, LandaI, Leandro-GarciaLJ, et al. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43: 663–667.
9. JonesS, HrubanRH, KamiyamaM, BorgesM, ZhangX, et al. (2009) Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 324: 217.
10. GibsonRA, HajianpourA, Murer-OrlandoM, BuchwaldM, MathewCG (1993) A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Human Molecular Genetics 2: 797–799.
11. GermanJ, SanzMM, CiocciS, YeTZ, EllisNA (2007) Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat 28: 743–753.
12. StrathdeeCA, GavishH, ShannonWR, BuchwaldM (1992) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356: 763–767.
13. GavishH, dos SantosCC, BuchwaldM (1993) A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Human Molecular Genetics 2: 123–126.
14. The 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061–1073.
15. CouchFJ, JohnsonMR, RabeK, BoardmanL, McWilliamsR, et al. (2005) Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. Cancer Research 65: 383–386.
16. WangW (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 8: 735–748.
17. HeyerWD, EhmsenKT, LiuJ (2010) Regulation of homologous recombination in eukaryotes. Annu Rev Genet 44: 113–139.
18. van der HeijdenMS, YeoCJ, HrubanRH, KernSE (2003) Fanconi anemia gene mutations in young-onset pancreatic cancer. Cancer Research 63: 2585–2588.
19. BerwickM, SatagopanJM, Ben-PoratL, CarlsonA, MahK, et al. (2007) Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Research 67: 9591–9596.
20. BarisHN, KedarI, HalpernGJ, ShohatT, MagalN, et al. (2007) Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. Isr Med Assoc J 9: 847–850.
21. SealS, ThompsonD, RenwickA, ElliottA, KellyP, et al. (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nature Genetics 38: 1239–1241.
22. SokolenkoAP, IyevlevaAG, PreobrazhenskayaEV, MitiushkinaNV, AbyshevaSN, et al. (2011) High prevalence and breast cancer predisposing role of the BLMc.1642 C>T (Q548X) mutation in Russia. International Journal of Cancer doi: 10.1002/ijc.26342.
23. GruberSB, EllisNA, ScottKK, AlmogR, KolachanaP, et al. (2002) BLM heterozygosity and the risk of colorectal cancer. Science 297: 2013.
24. ClearySP, ZhangW, Di NicolaN, AronsonM, AubeJ, et al. (2003) Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res 63: 1769–1771.
25. WalshT, LeeMK, CasadeiS, ThorntonAM, StraySM, et al. (2010) Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America 107: 12629–12633.
26. ZollnerS, PritchardJK (2007) Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am J Hum Genet 80: 605–615.
27. MeindlA, HellebrandH, WiekC, ErvenV, WappenschmidtB, et al. (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nature Genetics 42: 410–416.
28. LovedayC, TurnbullC, RamsayE, HughesD, RuarkE, et al. (2011) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nature Genetics 43: 879–882.
29. ThompsonER, BoyleSE, JohnsonJ, RylandGL, SawyerS, et al. (2012) Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. Human Mutation 33: 95–99.
30. OsborneRH, HopperJL, KirkJA, Chenevix-TrenchG, ThorneHJ, et al. (2000) kConFab: a research resource of Australasian breast cancer families. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer [letter]. med j aust 172: 463–464.
31. BerryDA, IversenESJr, GudbjartssonDF, HillerEH, GarberJE, et al. (2002) BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology 20: 2701–2712.
32. BaxterSW, ChoongDY, EcclesDM, CampbellIG (2001) Polymorphic variation in CYP19 and the risk of breast cancer. Carcinogenesis 22: 347–349.
33. LiH, DurbinR (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754–1760.
34. McKennaA, HannaM, BanksE, SivachenkoA, CibulskisK, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research 20: 1297–1303.
35. McLarenW, PritchardB, RiosD, ChenY, FlicekP, et al. (2010) Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 26: 2069–2070.
36. RiosD, McLarenWM, ChenY, BirneyE, StabenauA, et al. (2010) A database and API for variation, dense genotyping and resequencing data. BMC Bioinformatics 11: 238.
37. StensonPD, BallEV, HowellsK, PhillipsAD, MortM, et al. (2009) The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics 4: 69–72.
38. NgPC, HenikoffS (2001) Predicting deleterious amino acid substitutions. Genome Research 11: 863–874.
39. AdzhubeiIA, SchmidtS, PeshkinL, RamenskyVE, GerasimovaA, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248–249.