Inherited breast and ovarian cancer

Human Molecular Genetics

Volumn 4, Issue REV. ISS., 1995, Pages 1811-1817

  Szabo, Csilla I ^a   King, Mary Claire ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; PROTEIN P53;

ATAXIA TELANGIECTASIA; AUTOSOMAL DOMINANT INHERITANCE; BREAST CANCER; CANCER SUSCEPTIBILITY; FEMALE; HOMOZYGOSITY; HUMAN; MALE; OVARY CANCER; PRIORITY JOURNAL; REVIEW; TUMOR SUPPRESSOR GENE;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0029125296     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.suppl_1.1811     Document Type: Review

References (64)

1. American Cancer Society. Cancer Facts and Figures. (1994) American Cancer Society, Atlanta.
2. California Department Health Services. Cancer incidence and mortality in California by detailed race/ethnicity, 1988-1992. (1994) California Department Health Services, Sacramento.
3. Broca PO. Traite des Tumeurs, Vol 1. Paris: P Asselin, 1886-1889.
4. Lane-Clayton JE. A further report on cancer of the breast with special reference to its associated antecedent conditions. (1926) Reports on Public Health and Medical Subjects, no. 32. Ministry of Health, London.
5. Jacobsen O. Heredity in breast cancer, a genetic and clinical study of 200 probands. (1946) Op dom Biol hered hum, kbh 11: 1-306.
6. Penrose LS, Mackenzie HJ, Kam MN. A genetical study of human mammary cancer. (1948) Ann Eugen 14: 234-266.
7. Macklin MT. Comparison of the number of breast cancer deaths observed in relatives of breast cancer patients and the number expected on the basis of mortality rates. (1959) J Natl Cancer Inst 22: 927-951.
8. Anderson DE. A genetic study of human breast cancer. (1972) J Natl Cancer Inst 28: 1500-1504.
9. Bain C, Speizer FE, Rosner E, Belanger C, Hennekens CH. Family history of breast cancer as a risk indicator for the disease. (1980) Am J Epidemiol 111: 301-308.
10. Schwartz AG, King MC, Belle SH, Satariano WA, Swanson GM. Risk of breast cancer to relatives of young breast cancer patients. (1985) J Natl Cancer Inst 75: 665-668.
11. Newman B, Austin MA, Lee M, King M-C (1988) Inheritance of human breast cancer: Evidence for autosomal dominant transmission in highrisk families. (1988) Proc Natl Acad Sci USA 85: 3044-3048.
12. Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. (1991) Am J Hum Genet 48: 232-242
13. Schildkraut JM, Risch N, Thompson WD. Evaluating genetic association among ovarian, breast, and endometrial cancer: Evidence for a breast/ ovarian cancer relationship. (1989) Am J Hum Genet 45: 521-529.
14. King M-C, Rowell SE, Love SM. Inherited breast and ovarian cancer: What are the risks? What are the choices? (1993) J Am Med Assoc 269: 1975-1980.
15. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King M-C (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. (1990) Science 250: 1684-1689.
16. Narod SA, Feunteun J, Lynch HT, Watson P, Conway T, Lynch J, Lenoir GM. Familial breast-ovarian cancer locus on chromosome 17q12-q23. (1991) Lancet 338: 82-83.
17. Easton DF, Bishop DT, Ford D, Crockford GP and Breast Cancer Linkage Consortium. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. (1993) Am J Hum Genet 52: 678-701.
18. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE and Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers. (1994) Lancet 343: 692-695.
19. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavugian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH, A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. (1994) Science 266: 66-71.
20. Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett LM, Haugen-Strano A, Swensen J, Miki Y, Eddington K, McClure M, Frye C, Weaver-Feldhaus J, Ding W, Gholami Z, Soderkvist P, Terry L, et al. BRCA1 mutations in primary breast and ovarian carinomas. (1994) Science 266: 120-122.
21. Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, Collins FS, Weber BL. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. (1994) Nature Genet 8: 387-391
22. Friedman LS, Ostermeyer EA, Szabo CT, Dowd P, Lynch ED, Rowell SE, King M-C. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. (1994) Nature Genet 8: 399-404.
23. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc J-F, Belanger C, Dion F, Liu Q, Skolnick M, Goldar D, Shattuck-Eidens D, Labric F, Narod SA. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. (1994) Nature Genet 8: 392-398.
24. Wooster R., Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir G, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis CM, Cannon-Albright LA, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Goldgar DE, Stratton MR. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. (1994) Science 265: 2088-2090.
25. Zuppan PJ, Hall JM, Lee MK, Ponglikitmongkol M, King M-C. Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease. (1991) Am J Hum Genet 48: 1065-1068.
26. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, 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. (1990) Science 250: 1233-1238.
27. Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BA, Stratton MR. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. (1992) Nature Genet 2: 132-134.
28. Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. (1991) N Engl J Med 325: 1831-1836.
29. Borresen AL, Andersen TI, Tretli S, Heiberg A, Moller P. Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia. (1990) Genes Chrom Cancer 2: 339-40.
30. Easton DF. Cancer risks in A-T heterozygotes. (1994) Int J Radiation Biol 66: S177-182.
31. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vangaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Hamik R, Patanjali SR, Simmons A, Clines G, Sartiel A, Gatti R, Chessa L, Sanal O, Lavin MF, Jaspers NGF, Taylor A, Malcolm R, Arlett CF, Miki T, Weissman SM. Lovett M, Collins FS, Shiloh Y. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. (1995) Science 268: 1749-1753
32. Krontiris TG, Devlin B, Karp DD, Robert NJ, Risch N. An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. (1993) N Engl J Med 329: 517-523.
33. Lovering R, Hanson IM, Borden KL, Martin S, O'Reilly NJ, Evan GI, Rahman D, Pappin DJ, Trowsdale J, Freemont PS. Identification and preliminary characterization of a protein motif related to the zinc finger. (1993) Proc Natl Acad Sci USA 90: 2112-2116.
34. Shattuck-Eidens D. McClure M, Simard J, Labrie F, Narod S. Couch F, Weber B, Castilla L, Brody L, Friedman L, Ostermeyer E, Szabo C, King M-C, Jhanwar S, Offit K. Norton L, Gilewski T. Lubin M, Osborne M, Black D, Boyd M, Steel M, Ingles S, Haile R, Lindblom A, Borg A, Bishop DT, Solomon E, Radice P, Spatti G, Gayther S. Ponder B, Warren W, Stratton M. Liu Q. Fujimura F, Lewis C. Skolnick MH, Goldgar DE. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: Implications for presymptomatic testing and screening. (1995) J Am Med Assoc 273: 535-541.
35. Boyd M, Harris F, McFarlane R, Davidson HR, Black DM. A human BRCA1 gene knockout. (1995) Nature 375: 541-542.
36. Hogervorst FBL, Cornelis RS, Bout M, van Vliet M, Oosterwijk JC, Olmer R, Bakker B, et al. Rapid detection of BRCA1 mutations by the protein truncation test. (1995) Nature Genet 10: 208-212.
37. Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, et al. Detection of eight BRCA1 mutations in ten breast/ovarian cancer families, including one family with male breast cancer. (1995) Am J Hum Genet 57: 1-7.
38. Takahashi H, Behbakht K, McGovem PE, Chiu H-C, Couch FJ, Weber BL, Friedman LS, King MC, Furusato M, LiVolsi VA, Menzin AW, Liu PC, Benjamin I, Morgan MA, King SA, Rebane BA, Cardonick A, Mikuta JJ, Rubin SC, Boyd J Mutation analysis of the BRCA1 gene in ovarian cancers. (1995) Cancer Res (in press)
39. Kunkel TA. Frameshift mutagenesis by eukaryotic DNA polymerases in vitro. (1986) J Biol Chem 261: 13581-13587.
40. Schlotterer C, Tautz, D. Slippage synthesis of simple sequence DNA (1992) Nucleic Acids Res 20: 211-215.
41. Friedman LS, Szabo CI, Ostermeyer EA, Dowd P, Butler L, Park T, Lee MK, Goode E, Rowell SE, King M-C. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation in Ashkenazi Jewish families. (1995) Am J Hum Genet (in review)
42. Losson R, Lacroute F (1979) Interference of nonsense mutations with eukaryotic messenger RNA stability. (1979) Proc Natl Acad Sci USA 76: 5134-5137.
43. Leeds P, Peltz SW, Jacobson A, Culbertson MR. The product of the yeast UPFI gene is required for rapid turnover of mRNAs containing a premature translational termination codon. (1991) Genes Dev 5: 2303-2314.
44. Pulak R, Anderson P. mRNA surveillance by the Caenorhabditis elegans smg genes. (1993) Genes Dev 7: 1885-1897.
45. Cui Y, Hagan KW, Zhang S, Peltz SW. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. (1995) Genes Dev 9: 423-436.
46. Dunn JM, Phillips RA, Zhu X, Becker A, Gallie BL. Mutations in the RB1 gene and their effects on transcription. (1989) Mol Cell Biol 9: 4596-4604.
47. Lim SK, Sigmund CD, Gross KW, Maquat LE. Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products. (1992) Mol Cell Biol 12: 1149-1161.
48. Menon KP, Neufeld EF. Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles. (1994) Cell Mol Biol 40: 999-1005.
49. Roy N, Laflamme G, Raymond V. 5′ untranslated sequences modulate rapid mRNA degradation mediated by 3′ AU-rich element in v-/c-fos recombinants. (1992) Nucleic Acids Res 20: 5753-5762.
50. Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA. Weber BL, Collins FS, Johnston C, Frank TS. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. (1995) Nature Genet 9: 439-443.
51. Neuhausen SL, Swensen J, Miki Y, Liu Q, Tavtigian S, Shattuck-Eidens D, Kamb A, Hobbs MR, Gingrich J. Shizuya H, Kim U-J, Cochran C, Futreal PA, Wiseman RW, Lynch HT, Tonin P, Narod S, Cannon-Albright L, et al. A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1. (1994) Hum Mol Genet 3: 1919-1926.
52. Tonin P, Serova O, Lenoir G, Lynch H, Durocher F, Simard J, Morgan K, et al. BRCA1 mutations in Ashkenazi Jewish women. (1995) Am J Hum Genet 57: in press.
53. Helmrich SP, Shapiro S, Rosenberg L, Kaufman DW, Slone D, Bam C. Miettinen OS, et al. Risk factors for breast cancer. (1983) Am J Epidemiol 117: 35-45.
54. Hosking L, Trowsdale J, Nicolai H, Solomon E, Foulkes W, Stamp G, Signer E, Jeffreys A. A somatic BRCA1 mutation in an ovarian tumour. (1995) Nature Genet 9: 343-344.
55. Hartmann A, Blaszyk H, McGovern RM, Schroeder JJ, Cunningham J, DeVries EM, Kovach JS, et al. p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers. (1995) Oncogene 10: 681-688.
56. Neuhausen SL; Marshall CJ. Loss of heterozygosity in familial tumors from three BRCA1-linked kindreds. (1994) Cancer Res 54: 6069-6072.
57. Friedman LS, Ostermeyer EA, Lynch ED, Szabo CI, Anderson LA, Dowd P, Lee MK, Rowell SE, Boyd J, King M-C. The search for BRCA1. (1994) Cancer Res 54: 6374-6382.
58. Smith SA, Easton DF, Evans DGR, and Ponder BAJ. Allele losses in the region 17q12-q21 in familial breast and ovarian cancer non-randomly involve the wild-type chromosome. (1992) Nature Genet 2:128-131.
59. Schildkraut JM, Collins NK, Dent GA, Tucker JA, Barrett JC, Berchuck A, Boyd J. Loss of heterozygosity on chromosome 17q11-21 in cancers of women who have both breast and ovarian cancer. (1995) Am J Obstet Gynecol 172: 908-913.
60. Nagai MA, Yamamoto L, Salaorni S, Pacheco MM, Brentani MM, Barbosa EM, Brentani RR, Mazoyer S, Smith SA, Ponder BA, et al. Detailed deletion mapping of chromosome segment 17q12-21 in sporadic breast tumours. (1994) Genes Chrom Cancer 11: 58-62.
61. Godwin AK, Vanderveer L, Schultz DC, Lynch HT, Altomare DA, Buetow KH, Daly M, Getts LA, Masny A, Rosenblum N, et al. A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1. (1994) Am J Hum Genet 55: 666-677.
62. Thompson ME, Jensen RA, Obermiller PS, Page DS, Holt JT. Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. (1995) Nature Genet 9: 444-450.
63. Campbell IG, Nicolai HM, Foulkes WD, Senger G, Stamp GW, Allan G, Boyer C, Jones K, Bast RC Jr, Solomon E, et al. A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1. (1994) Hum Mol Genet 3: 589-594.
64. Brown MA, Nicolai H, Xu C-F, Griffiths BL, Jones KA, Solomon E, Hosking L, Trowsdale J, Black DM, McFarlane R. Regulation of BRCA1. (1994) Nature 372: 733