Mutations of the BRCA1 and BRCA2 genes and the possibilities for predictive testing

Molecular Medicine Today

Volumn 3, Issue 4, 1997, Pages 168-174

  Gayther, Simon A ^b   Ponder, Bruce A J ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ONCOPROTEIN;

BREAST CANCER; CANCER RISK; FAMILIAL CANCER; GENE MUTATION; GENETIC SCREENING; HUMAN; OVARY CANCER; REVIEW;

BRCA2 PROTEIN; FEMALE; GENES, BRCA1; GENES, TUMOR SUPPRESSOR; GENETIC SCREENING; HUMANS; MALE; MUTATION; NEOPLASM PROTEINS; NEOPLASMS; PREDICTIVE VALUE OF TESTS; TRANSCRIPTION FACTORS;

EID: 0031413516     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(97)01017-4     Document Type: Review

References (36)

1. Easton, D.F. et al. (1993) Genetic linkage analysis in familial breast and ovarian cancer, Am. J. Hum. Genet. 52, 718-722
2. Wooster, R. et al. (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13, Science 265, 2088-2090
3. Miki, Y. et al. (1994) A strong candidate for the breast and ovarian-cancer susceptibility gene BRCA1, Science 266, 66-71
4. Wooster, R. et al. (1995) Identification of the breast-cancer susceptibility gene BRCA2. Nature 378, 789-792
5. Tavtigian, S.V. et al. (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds, Nat. Genet. 12, 333-337
6. Shattuck-Eidens, D. et al. (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene, J. Am. Med. Assoc. 273, 535-541
7. Couch, F.J., Weber, B.L. and the Breast Cancer Information Core (1996) Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum. Mutat. 8, 8-18
8. Couch, F.J. et al. (1996) BRCA2 germline mutations in male breast-cancer cases and breast-cancer families, Nat. Genet. 13, 123-125
9. Phelan, C.M. et al. (1996) Mutation analysis of the BRCA2 gene in 49 site-specific breast-cancer families, Nat. Genet. 13, 120-122
10. Gayther, S.A. et al. (1996) Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene, Nat. Genet. 15, 103-105
11. Serova, O.M. et al. (1996) Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer susceptibility genes? Am. J. Hum. Genet. 60, 486-495
12. Chapman, M.S. and Verma, I.M. (1996) Transcriptional activation by BRCA1, Nature 382, 678-679
13. Jensen, R.A. et al. (1996) BRCA1 is secreted and exhibits properties of a granin, Nat. Genet. 12, 303-308
14. Grompe, M. (1993) The rapid detection of unknown mutations in nucleic acids, Nat. Genet. 5, 111-117
15. Mashal, R.D. and Sklar, J. (1996) Practical methods of mutation detection, Curr. Opin. Genet. Dev. 6, 275-280
16. Neuhausen, S. et al. (1996) Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study, Am. J. Hum. Genet. 58, 271-280
17. Streuwing, J.P. et al. (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals, Nat. Genet. 11, 198-200
18. Fitzgerald, M.G. et al. (1996) Germline BRCA1 mutations in Jewish and non-Jewish women with early onset breast cancer, New Engl. J. Med. 334, 143-149
19. Neuhausen, S. et al. (1996) Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer, Nat. Genet, 13, 126-128
20. Thorlacius, S. et al. (1996) A single BRCA2 mutation in male and female breast-cancer families from Iceland with varied cancer phenotypes, Nat. Genet. 13, 117-119
21. Roa, B.B., Boyd, A.A., Volcik, K. and Richards, C.S. (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2, Nat. Genet. 14, 185-187
22. Oddoux, C. et al. (1996) The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1 percent, Nat. Genet. 14, 188-190
23. Easton, D.F. et al. (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers, Am. J. Hum. Genet. 56, 265-271
24. Phelan, C.M. et al. (1996) Ovarian cancer risk in BRCA1 carriers is modified by the HRAS variable number of tandem repeats (VNTR) locus, Nat. Genet. 12, 309-311
25. Spirio, L. et al. (1993) Alleles of the APC gene: an attenuated form of familial polyposis, Cell 75, 951-957
26. Olschwang, S. et al. (1993) Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients, Cell 75, 959-968
27. Caspari, R. et al. (1994) Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444, Hum. Mol. Genet. 4, 337-340
28. Gayther, S.A. et al. (1995) Germline mutations of the BRCA1 gene in breast and ovarian-cancer families provide evidence for a genotype-phenotype correlation, Nat. Genet. 11, 428-433
29. Holt, J.T. et al. (1996) Growth-retardation and tumor-inhibition by BRCA1, Nat. Genet. 12, 298-302
30. Mazoyer, S. et al. (1996) A BRCA2 polymorphic stop codon resulting in loss of the putative granin domain, Nat. Genet. 14, 253-254
31. Futreal, P.A. et al. (1994) BRCA1 mutations in primary breast and ovarian carcinomas, Science 266, 120-122
32. Merajver, S.D. et al. (1995) Somatic mutations in the BRCA1 gene in sporadic ovarian tumours, Nat. Genet. 9, 439-443
33. Miki, Y. et al. (1996) Mutation analysis in the BRCA2 gene in primary breast cancers, Nat. Genet. 13, 245-247
34. Lancaster, J.M. et al. (1996) BRCA2 mutations in primary breast and ovarian cancers, Nat. Genet. 13, 238-240
35. Takahashi, H. et al. (1996) Mutations of the BRCA2 gene in ovarian cancer, Cancer Res. 56, 2738-2741
36. Foster, K. et al. (1996) Somatic and germline mutations of the BRCA2 gene in sporadic ovarian cancer, Cancer Res. 56, 3622-3625