Genetic predisposition to breast cancer: Past, present, and future

Annual Review of Genomics and Human Genetics

Volumn 9, Issue , 2008, Pages 321-345

  Turnbull, Clare ^a   Rahman, Nazneen ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

Allele; BRCA*; Familial; Penetrance; Susceptibility

Indexed keywords

ATM PROTEIN; BRCA1 INTERACTING PROTEIN CARBOXY TERMINAL HELICASE 1; CHECKPOINT KINASE 2; FIBROBLAST GROWTH FACTOR RECEPTOR 2; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE; PARTNER AND LOCALIZER OF BRCA2 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN; PROTEIN KINASE LKB1; PROTEIN P53; RAD50 PROTEIN; UNCLASSIFIED DRUG; UVOMORULIN;

ALLELE; ATAXIA TELANGIECTASIA MUTATED GENE; BRCA1 INTERACTING PROTEIN CARBOXY TERMINAL HELICASE 1 GENE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CHECKPOINT KINASE 2 GENE; CHROMOSOME 10Q; CHROMOSOME 11P; CHROMOSOME 16Q; CHROMOSOME 2Q; CHROMOSOME 5P; CHROMOSOME 5Q; CHROMOSOME 8Q; CHROMOSOME IDENTIFICATION; DISEASE ASSOCIATION; FIBROBLAST GROWTH FACTOR RECEPTOR 2 GENE; GENE IDENTIFICATION; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; MOLECULAR CLONING; MUTATIONAL ANALYSIS; ONCOGENE; PARTNER AND LOCALIZER OF BRCA2 GENE; PHOSPHATASE AND TENSIN HOMOLOG GENE; RAD50 HOMOLOG GENE; REVIEW; SERINE THREONINE KINASE 11 GENE; TUMOR GENE; TUMOR PROTEIN P53 GENE; UVOMORULIN GENE;

BREAST NEOPLASMS; CADHERINS; CELL CYCLE PROTEINS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; NUCLEAR PROTEINS; PENETRANCE; PROTEIN-SERINE-THREONINE KINASES; PTEN PHOSPHOHYDROLASE; RISK FACTORS; RNA HELICASES; TUMOR SUPPRESSOR PROTEINS;

EID: 52949096470     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.9.081307.164339     Document Type: Review

References (125)

1. Alessi DR, Sakamoto K, Bayascas JR. 2006. LKB1-dependent signaling pathways. Annu. Rev. Biochem. 75:137-63
2. Allinen M, Huusko P, Mantyniemi S, Launonen V, Winqvist R. 2001. Mutation analysis of the CHK2 gene in families with hereditary breast cancer. Br. J. Cancer 85:209-12
3. Andrieu N, Goldgar DE, Easton DF, Rookus M, Brohet R, et al. 2006. Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J. Natl. Cancer Inst. 98:535-44
4. Anglian Breast Cancer Study Group. 2000. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br. J. Cancer 83:1301-8
5. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, et al. 2003. 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. 72:1117-30
6. Antoniou AC, Easton DF. 2003. Polygenic inheritance of breast cancer: Implications for design of association studies. Genet. Epidemiol. 25:190-202
7. Antoniou AC, Gayther SA, Stratton JF, Ponder BA, Easton DF. 2000. Risk models for familial ovarian and breast cancer. Genet. Epidemiol. 18:173-90
8. Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D. 2001. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet. Epidemiol. 21:1-18
9. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, et al. 2002. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br. J. Cancer 86:76-83
10. Antoniou AC, Pharoah PP, Smith P, Easton DF. 2004. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br. J. Cancer 91:1580-90
11. Antoniou AC, Sinilnikova OM, Simard J, Leone M, Dumont M, et al. 2007. RAD51 135G->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am. J. Hum. Genet. 81:1186-200
12. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, et al. 2008. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am. J. Hum. Genet. 82:937-48
13. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, et al. 1999. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286:2528-31
14. Bignell GR, Barfoot R, Seal S, Collins N, Warren W, Stratton MR. 1998. Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer. Cancer Res. 58:1384-86
15. Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, et al. 2001. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621-28
16. Bishop DT, Cannon-Albright L, McLellan T, Gardner EJ, Skolnick MH. 1988. Segregation and linkage analysis of nine Utah breast cancer pedigrees. Genet. Epidemiol. 5:151-69
17. Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S, Lazjuk GI, Rogov YI, et al. 2005. Association of two mutations in the CHEK2 gene with breast cancer. Int. J. Cancer 116:263-66
18. Borresen AL, Andersen TI, Garber J, Barbier-Piraux N, Thorlacius S, et al. 1992. Screening for germ line TP53 mutations in breast cancer patients. Cancer Res. 52:3234-36
19. Breast Cancer Assoc. Consort. 2006. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J. Natl. Cancer Inst. 98:1382-96
20. Breast Cancer Link. Consort. 1997. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 349:1505-10
21. Breast Cancer Link. Consort. 1999. Cancer risks in BRCA2 mutation carriers. J. Natl. Cancer Inst. 91:1310-16
22. Broca P. 1866. Traité des Tumeurs. Paris: Asselin
23. Brohet RM, Goldgar DE, Easton DF, Antoniou AC, Andrieu N, et al. 2007. Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J. Clin. Oncol. 25:3831-36
24. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, et al. 2001. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105:149-60
25. Chang-Claude J, Andrieu N, Rookus M, Brohet R, Antoniou AC, et al. 2007. Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol. Biomark. Prev. 16:740-46
26. CHEK2 Breast Cancer Case-Control Consort. 2004. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. 2004. Am. J. Hum. Genet. 74:1175-82 (WAS 8)
27. Chen J, Lindblom P, Lindblom A. 1998. A study of the PTEN/MMAC1 gene in 136 breast cancer families. Hum. Genet. 102:124-25
28. Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, et al. 2000. p53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br. J. Cancer 82:1932-37
29. Claus EB, Risch N, Thompson WD. 1991. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am. J. Hum. Genet. 48:232-42
30. Collab. Group Horm. Factors Breast Cancer. 1996. Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53,297 women with breast cancer and 100,239 women without breast cancer from 54 epidemiological studies. Lancet 347:1713-27
31. Collab. Group Horm. Factors Breast Cancer. 1997. Breast cancer and hormone replacement therapy: collaborative reanalysis of data from 51 epidemiological studies of 52,705 women with breast cancer and 108,411 women without breast cancer. Lancet 350:1047-59
32. Collab. Group Horm. Factors Breast Cancer. 2001. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 358:1389-99
33. Collab. Group Horm. Factors Breast Cancer. 2002. Breast cancer and breastfeeding: collaborative reanalysis of individual data from 47 epidemiological studies in 30 countries, including 50,302 women with breast cancer and 96,973 women without the disease. Lancet 360:187-95
34. Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, et al. 2007. A common coding variant in CASP8 is associated with breast cancer risk. Nat. Genet. 39:352-58
35. Cui J, Antoniou AC, Dite GS, Southey MC, Venter DJ, et al. 2001. After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer. Am. J. Hum. Genet. 68:420-31
36. Cully M, You H, Levine AJ, Mak TW. 2006. Beyond PTEN mutations: the PI3K pathway as an integrator of multiple inputs during tumorigenesis. Nat. Rev. Cancer 6:184-92
37. Cybulski C, Górski B, Huzarski T, Masojć B, Mierzejewski M, et al. 2004. CHEK2 is a multiorgan cancer susceptibility gene. Am. J. Hum. Genet. 75:1131-35
38. Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, et al. 2003. Mutations in CHEK2 associated with prostate cancer risk. Am. J. Hum. Genet. 72:270-80
39. Dufault MR, Betz B, Wappenschmidt B, Hofmann W, Bandick K, et al. 2004. Limited relevance of the CHEK2 gene in hereditary breast cancer. Int. J. Cancer 110:320-25
40. Dunning AM, Healey CS, Pharoah PD, Teare MD, Ponder BA, Easton DF. 1999. A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol. Biomark. Prev. 8:843-54
41. Easton DF. 1994. Cancer risks in A-T heterozygotes. Int. J. Radiat. Biol. 66:S177-82
42. Easton DF. 1999. How many more breast cancer predisposition genes are there? Breast Cancer Res. 1:14-47
43. Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, et al. 2007. A systematic genetic assessment of 1433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am. J. Hum. Genet. 81:873-83
44. Easton DF, Ford D, Bishop DT. 1995. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 56:265-71
45. Easton DF, Matthews FE, Ford D, Swerdlow AJ, Peto J. 1996. Cancer mortality in relatives of women with ovarian cancer: the OPCS Study. Office of Population Censuses and Surveys. Int. J. Cancer 65:284-94
46. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, et al. 2007. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447:1087-93
47. Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, et al. 2007. A recurrent mutation in PALB2 in Finnish cancer families. Nature 446:316-19
48. Evans DG, Birch JM, Thorneycroft M, McGown G, Lalloo F, Varley JM. 2002. Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. J. Med. Genet. 39:941-44
49. Evers B, Jonkers J. 2006. Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects. Oncogene 25:5885-97
50. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, et al. 2005. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 434:917-21
51. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, 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. 62:676-89
52. Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, et al. 2007. Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French Canadian women. Breast Cancer Res. 9:R83
53. Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, et al. 2008. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet. 4:e1000054
54. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, et al. 2008. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc. Natl. Acad Sci. USA 105:4340-5
55. Górski B, Cybulski C, Huzarski T, Byrski T, Gronwald J, et al. 2005. Breast cancer predisposing alleles in Poland. Breast Cancer Res. Treat. 92:19-24
56. Gudmundsdottir K, Ashworth A. 2006. The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 25:5864-74
57. Guénard F, Labrie Y, Ouellette G, Beauparlant CJ, Bessette P, et al. 2007. Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families. Fam. Cancer 6:483-90
58. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, et al. 1998. E-cadherin getmline mutations in familial gastric cancer. Nature 392:402-5
59. Haiman CA, Le ML, Yamamato J, Stram DO, Sheng X, et al. 2007. A common genetic risk factor for colorectal and prostate cancer. Nat. Genet. 39:954-56
60. Haiman CA, Patterson N, Freedman ML, Myers SR, Pike MC, et al. 2007. Multiple regions within 8q24 independently affect risk for prostate cancer. Nat. Genet. 39:638-44
61. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, et al. 1990. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684-89
62. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, et al. 2006. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 27:1593-99
63. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, et al. 1998. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391:184-87
64. Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, et al. 1997. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat. Genet. 15:87-90
65. Hopper JL, Carlin JB. 1992. Familial aggregation of a disease consequent upon correlation between relatives in a risk factor measured on a continuous scale. Am. J. Epidemiol. 136:1138-47
66. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, et al. 2002. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606-9
67. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, et al. 2007. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat. Genet. 39:870-74
68. Iselius L, Slack J, Littler M, Morton NE. 1991. Genetic epidemiology of breast cancer in Britain. Ann. Hum. Genet. 55:151-59
69. Jacquemier J, Padovani L, Rabayrol L, Lakhani SR, Penault-Llorca F, et al. 2005. Typical medullary breast carcinomas have a basal/myoepithelial phenotype. J. Pathol. 207:260-68
70. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, et al. 1998. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat. Genet. 18:38-43
71. Keller G, Vogelsang H, Becker I, Hutter J, Ott K, et al. 1999. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am. J. Pathol. 155:337-42
72. Kilpivaara O, Vahteristo P, Falck J, Syrjakoski K, Eerola H, et al. 2004. CHEK2 variant I157T may be associated with increased breast cancer risk. Int. J. Cancer 111:543-47
73. Lakhani SR. 1999. The pathology of familial breast cancer: Morphological aspects. Breast Cancer Res. 1:31-35
74. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, et al. 2005. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin. Cancer Res. 11:5175-80
75. Lakhani SR, van der Vijver M, Jacquemier J, Anderson TJ, Osin PP, et al. 2002. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J. Clin. Oncol. 20:2310-18
76. Lalloo F, Varley J, Moran A, Ellis D, O'dair L, et al. 2006. BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur. J. Cancer 42:1143-50
77. Le Dran H. 1757. Memoire avec nn precis de plusieurs observations sur le cancer. Mem. Acad. R. Chir. 3:1-54
78. Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, et al. 2005. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group. J. Nat. Genet. 37:934-35
79. Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, et al. 2005. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat. Genet. 37:931-33
80. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, et al. 2000. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N. Engl. J. Med. 343:78-85
81. Litman R, Peng M, Jin Z, Zhang F, Zhang J, et al. 2005. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell 8:255-65
82. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, et al. 1990. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-38
83. Masciati S, Larsson N, Senz J, Boyd N, Kaurah P, et al. 2007. Germline E-cadherin mutations in familial lobular breast cancer. J. Med. Genet. 44:726-31
84. McCabe N, Turner NC, Lord CJ, Kluzek K, Bialkowska A, et al. 2006. Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res. 66:8109-15
85. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, et al. 2002. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat. Genet. 31:55-59
86. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, et al. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
87. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, et al. 1996. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat. Genet. 13:114-16
88. Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, et al. 1997. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum. Mol. Genet. 6:1383-87
89. Parmigiani G, Berry D, Aguilar O. 1998. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am. J. Hum. Genet. 62:145-58
90. Peng M, Litman R, Jin Z, Fong G, Cantor SB. 2006. BACH1 is a DNA repair protein supporting BRCA1 damage response. Oncogene 25:2245-53
91. Peto J, Collins N, Barfoot R, Seal S, Warren W, et al. 1999. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J. Natl. Cancer Inst. 91:943-49
92. Peto J, Easton DF, Matthews FE, Ford D, Swerdlow AJ. 1996. Cancer mortality in relatives of women with breast cancer: the OPCS Study. Office of Population Censuses and Surveys. Int. J. Cancer 65:275-83
93. Peto J, Mack TM. 2000. High constant incidence in twins and other relatives of women with breast cancer. Nat. Genet. 26:411-14
94. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. 2002. Polygenic susceptibility to breast cancer and implications for prevention. Nat. Genet. 31:33-36
95. Pharoah PD, Dunning AM, Ponder BA, Easton DF. 2004. Association studies for finding cancer-susceptibility genetic variants. Nat. Rev. Cancer 4:850-60
96. Pharoah PD, Guilford P, Caldas C. 2001. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121:1348-53
97. Rahman N, Scott RH. 2007. Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. Hum. Mol. Genet. 16(Spec. No. 1):R60-66
98. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, et al. 2007. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 39:165-67
99. Ramus SJ, Harrington PA, Pye C, Dicioccio RA, Cox MJ, et al. 2007. Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. Hum. Mutat. 28:1207-15
100. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, et al. 2007. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat. Genet. 39:162-64
101. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, et al. 2006. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat. Genet. 38:873-75
102. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, et al. 1995. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-53
103. Schutte M, Seal S, Barfoot R, Meijers-Heijboer H, Wasielewski M, et al. 2003. Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am. J. Hum. Genet. 72:1023-28
104. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, et al. 2006. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat. Genet. 38:1239-41
105. Seppala EH, Ikonen T, Mononen N, Autio V, Rokman A, et al. 2003. CHEK2 variants associate with hereditary prostate cancer. Br. J. Cancer 89:1966-70
106. Sharan SK, Wims M, Bradley A. 1995. Murine Brca1: sequence and significance for human missense mutations. Hum. Mol. Genet. 4:2275-78
107. Shugart YY, Cour C, Renard H, Lenoir G, Goldgar D, et al. 1999. Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. J. Med. Genet. 36:720-21
108. Smid M, Wang Y, Klijn JG, Sieuwerts AM, Zhang Y, et al. 2006. Genes associated with breast cancer metastatic to bone. J. Clin. Oncol. 24:2261-67
109. Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, et al. 2006. A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 45:646-55
110. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, et al. 2007. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat. Genet. 39:865-69
111. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, et al. 2008. Common variants on chromosome 5p12 confet susceptibility to estrogen receptor-positive breast cancer. Nat. Genet. doi:10.1038/ng.131
112. Swift M, Sholman L, Perry M, Chase C. 1976. Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res. 36:209-15
113. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, et al. 2005. Cancer risks and mortality in heterozygous ATM mutation carriers. J. Natl. Cancer Inst. 97:813-22
114. Thompson D, Easton D. 2001. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am. J. Hum. Genet. 68:410-19
115. Thompson D, Easton D. 2002. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol. Biomark. Prev. 11:329-36
116. Thompson D, Easton DF. 2002. Cancer incidence in BRCA1 mutation carriers. J. Natl. Cancer Inst. 94:1358-65
117. Thompson D, Seal S, Schutte M, McGuffog L, Barfoot R, et al. 2006. A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer Epidemiol. Biomark. Prev. 15:2542-45
118. Tommiska J, Seal S, Renwick A, Barfoot R, Baskcomb L, et al. 2006. Evaluation of RAD50 in familial breast cancer predisposition. Int. J. Cancer 118:2911-16
119. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, et al. 2006. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295:1379-88
120. Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S. 2006. Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene 25:323-28
121. Williams WR, Anderson DE. 1984. Genetic epidemiology of breast cancer: segregation analysis of 200 Danish pedigrees. Genet. Epidemiol. 1:7-20
122. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, et al. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-92
123. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, et al. 1994. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088-90
124. Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, et al. 2007. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat. Genet. 39:159-61
125. Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, et al. 2006. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol. Cell 22:719-29