Genes implicated in hereditary breast cancer syndromes

Seminars in Surgical Oncology

Volumn 18, Issue 4, 2000, Pages 281-286

  Tonin, Patricia N ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

Age factors; Ataxia telangiectasia; BRCA1; Breast neoplasms; Genetic predisposition to disease; Germline mutation; Hereditary neoplastic syndromes; Jews; Li Fraumeni syndrome; Linkage (genetics); Male breast neoplasms; Multiple hamartoma syndrome; Mutation; Ovarian neoplasms; Pedigree; Polymerase chain reaction; Risk assessment; TP53; Tumor suppressor genes

Indexed keywords

ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL DOMINANT DISORDER; BREAST CANCER; CANCER GENETICS; CANCER SUSCEPTIBILITY; CHROMOSOME 17Q; COWDEN SYNDROME; FAMILIAL CANCER; FEMALE; GENETIC RISK; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

BRCA2 PROTEIN; BREAST NEOPLASMS; BREAST NEOPLASMS, MALE; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; LIFE STYLE; MALE; NEOPLASM PROTEINS; OVARIAN NEOPLASMS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0034106059     PISSN: 87560437     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2388(200006)18:4<281::AID-SSU2>3.0.CO;2-Q     Document Type: Article

References (63)

1. Broca PP: "Traite des Tumeurs". Vols. 1 and 2. Paris: Asselin; 1866-1869.
2. Lynch HT: "Genetics and Breast Cancer." New York: Reinhold; 1981.
3. Stattin RW, Rubin GL, Webster LA, et al: Family history and the risk of breast cancer. JAMA 1985;253:1908-1913.
4. Claus EB, Risch N, Thompson WD: Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991;48:232-242.
5. Newman B, Austin MA, Lee M, King MC: Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci USA 1988;85:3044-3048.
6. Hoskins KF, Stopfer JE, Calzone KA, et al: Assessment and counseling for women with a family history of breast cancer. A guide for the clinician. JAMA 1995;273:577-585.
7. Hall JM, Lee MK, Newman B, et al: Linkage of early onset familial breast cancer to chromosome 17q21. Science 1990;250(4988): 1684-1689.
8. Narod SA, Feunteun J, Lynch HT, et al: Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 1991;338 (8759):82-83.
9. Easton DF, Bishop DT, Ford D, Crockford GP: Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1993;52:678-701.
10. Miki Y, Swensen J, Shattuck-Eidens D, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266(5182):66-71.
11. Wooster R, Neuhausen SL, Mangion J, et al: Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13 by genetic linkage analysis. Science 1994;265(5181):2088-2090.
12. Wooster R, Bignell G, Lancaster J, et al: Identification of the breast cancer susceptibility gene BRCA2 [published erratum appears in Nature 1996;379(6567):749]. Nature 1995;378(6559):789-792.
13. Tavtigian SV, Simard J, Rommens J, et al: The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996:12:333-337.
14. Ford D, Easton DF, Stratton M, et al; Genetic heterogeneity and penetrance analysis of BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998;62:676-689.
15. Easton DF, Ford D, Bishop DT: Breast and ovarian cancer incidence in BRCA1 mutation carriers. The Breast Cancer Linkage Consortium. Am J Hum Genet 1995;56:265-271.
16. Easton DF, Steele L, Fields P, et al: Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 1997:61:120-128.
17. Strattton MR, Ford D, Neuhausen S, et al: Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nat Genet 1994;7:103-107.
18. Couch FJ, Farid LM, DeShano ML, et al: BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 1996;13:123-125.
19. Struewing JP, Hartge P, Wacholder S, et al: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-1408.
20. Brunet J, Ghadirian P, Rebbek TR, et al: The effect of smoking on breast cancer in BRCA1 and BRCA2 carriers. J Natl Cancer Inst 1998;90:761-766.
21. Narod SA, Risch H, Moslehi R, et al: Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Group. N Engl J Med 1998; 339:424-426.
22. Breast Cancer Information Core (BIC) [web page]. Bethesda, MD; National Human Genome Research Institute [cited 00 March 13]. Available from: http://www.nhgri.nih.gov/Intramural_research/ Lab_transfer/Bic.
23. Hogervorst FB, Cornelis RS, Bout M, et al: Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet 1995; 10:208-212.
24. Weber BH, Brohm M, Stec I, et al: A somatic truncating mutation in BRCA2 in sporadic breast tumor [letter]. Am J Hum Genet 1996;59:962-964.
25. Friedman LS, Szabo CI, Ostermeyer EA, et al: Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 1995;57:1284-1297.
26. Struewing JP, Brody LC, Erdos MR, et al: Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet 1995;57:1-7.
27. Tonin P, Weber B, Offit K, et al: Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families [Review]. Nat Med 1996;2:1179-1183.
28. Berman DB, Costalas J, Schultz DC, et al: A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res 1996;56:3409-3414.
29. Neuhausen S, Gilweski T, Norton L, et al: Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996;13:126-128.
30. Struewing JP, Abeliovich D, Peretz T, et al: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals [published erratum appears in Nat Genet 1996;12:110]. Nat Genet 1995;11:198-200.
31. Oddoux C, Struewing JP, Clayton CM, et al: The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 1996;14:188-190.
32. Roa BB, Boyd AA, Volcik K, Richards CS: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185-187.
33. Gayther SA, Warren W, Mazoyer S, et al: Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for genotype-phenotype correlation. Nat Genet 1995; 11:428-433.
34. Shattuck-Eidens D, McClure M, Simard J, et al: A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA 1995;273:535-541.
35. Johannsson O, Ostermeyer EA, Hakansson S, et al: Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet 1996;58: 441-450.
36. Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al: High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res 1996;56:3663-3665.
37. Wagner TM, Moslinger R, Zielinski C, et al: New Austrian mutation in BRCA1 gene detected in three unrelated HBOC families [letter]. Lancet 1996;347(9010):1263.
38. Gayther SA, Harrington P, Russell P, et al: Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia [letter]. Am J Hum Genet 1997;60:1239-1242.
39. Peelen T, van Vliet M, Petrij-Bosch A, et al: A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 1997;60:1041-1049.
40. Ramus SJ, Kote-Jarai Z, Friedman LS, et al: Analysis of BRCA1 and BRCA2 mutations in Hungarian families with breast or breast-ovarian cancer [letter]. Am J Hum Genet 1997;60:1242-1246.
41. Shattuch-Eidens D, Oliphant A, McClure M, et al: BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 1997;278:1242-1250.
42. Tonin PN, Mes-Masson AM, Futreal PA, et al: Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 1998;63:1341-1351.
43. Serova OM, Mazoyer S, Puget N, et al: Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer susceptibility genes? Am J Hum Genet 1997;60:486-495.
44. Ford D, Easton DF, Bishop DT, et al: Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994;343(8899):692-695.
45. Li FP, Fraumeni JF Jr: Soft-tissue sarcoma, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969;71:747-752.
46. Strong LC, Stine M, Norsted TL: Cancer in survivors of childhood soft tissue sarcoma and their relatives. J Natl Cancer Inst 1987;79:1213-1220.
47. Malkin D, Li FP, Strong LC, et al: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990;250(4985): 1233-1238.
48. Frebourg T, Barbier N, Yan YX, et al: Germline-p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 1995;56:608-615.
49. Evans SC, Mims B, McMasters KM, et al: Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family. Hum Genet 1998;102:681-686.
50. Starink TM, van der Veen JP, Arwert F, et al: The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986;29:222-233.
51. Schrager CA, Schneider D, Gruener AC, et al: Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 1998;29:47-53.
52. Nelen MR, Padberg GW, Peeters EA, et al: Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996;13:114-116.
53. Liaw D, Marsh DJ, Li J, et al: Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64-67.
54. Nelen MR, van Stavern WC, Peeters EA, et al: Germline mutations in PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997;6:1383-1387.
55. 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.
56. Swift M, Morrell D, Massey RB, Chase CL: Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991;325:1831-1836.
57. Wooster R, Ford D, Mangion J, et al: Absence of linkage to the ataxia telangiectasia locus in familial breast cancer. Hum Genet 1993;92:91-94.
58. Athma P, Rappaport R, Swift M: Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996;92:130-134.
59. FitzGerald MG, Bean JM, Hegde SR, et al: Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 1997;15:307-310.
60. Krontiris TG, DiMartino NA, Colb M, Parkinson DR: Unique allelic restriction fragments of the human Ha-ras locus in leukocyte and tumour DNAs of cancer patients. Nature 1985;313(6001):369-374.
61. Krontiris TG, Devlin B, Karp DD, et al: An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N Engl J Med 1993;329:517-523.
62. Phelen CM, Rebbeck TR, Weber BL, et al: Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet 1996;12:309-311.
63. Claus EB, Risch N, Thompson WD: Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994;73:643-651.