Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene

Human Mutation

Volumn 8, Issue 1, 1996, Pages 8-18

  Couch, Fergus J ^a   Weber, Barbara L ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

BIC; BRCA1; polymorphisms

Indexed keywords

ARTICLE; BREAST CANCER; CANCER GENETICS; DNA POLYMORPHISM; FAMILIAL CANCER; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL;

AGE OF ONSET; BRCA1 PROTEIN; BREAST NEOPLASMS; HUMANS; MUTATION; POLYMORPHISM, GENETIC;

EID: 0029980129     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1380080102     Document Type: Article

References (35)

1. Abel KJ, Xu J, Yin GY, Lyons RH, Meisler MH, Weber BL (1995) Mouse BRCA1: Localization, sequence analysis, and identification of evolutionarily conserved domains. Hum Mol Genet 4:2265-2273.
2. Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
3. Bennett LM, Haugen-Strano A, Cochran C, Brownlee HA, Fiedorek FT Jr, Wiseman RW (1995) Isolation of the mouse homologue of BRCA1 and genetic mapping to mouse chromosome 11. Genomics 29:576-581.
4. Borresen AL (1995) Constant denaturant gel electrophoresis (CDGE) in mutation screening. In Pfeifer GP (ed): Technologies for Detection of DNA Damage and Mutation. New York: Plenum Press.
5. Brown MA, Nicolai H, Xu CF, Griffiths BL, Jones KA, Solomon E, Hosking L, Trowsdale J, Black DM, McFarlane R (1995) Regulation of BRCA1. Nature 372:733.
6. Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, DeShano ML, Brody LC, Collins FS, Weber BL (1994) Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genet 8:387-391.
7. Chen Y, Chen C-F, Riley DJ, Allred DC, Chen P-L, Von Hoff D, Osborne CK, Lee W-H (1995) Aberrant subcellular localization of BRCA1 in breast cancer. Science 270:789-791.
8. Durocher F, Shattuck-Evans D, McClure M, Labrie F, Skolnick MH, Goldgar DE, Simard J (1996) Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. Hum Molec Genet, in press.
9. Easton DF, Bishop DT, Ford D, Crockford DP, and the Breast Cancer Linkage Consortium (1993) Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families. Am J Hum Genet 52:678-701.
10. Fitzgerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, Silva-Arrieto S, Finkelstein DM, Beer-Romero P, Englert C, Sgroi DC, Smith BL, Younger JW, Garber JE, Duda RB, Mayzel KA, Isselbacher KJ, Friend SH, Haber DA (1996) Germline BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 334:143-149.
11. Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, King MC (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genet 8:399-404.
12. Friedman LS, Szabo CI, Ostermeyer EA, Dowd P, Butler L, Park T, Lee MK, Goode EL, Rowell SE, King MC (1995) Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185 delAG in Ashkenazi Jewish families. Am J Hum Genet 57:1284-1297.
13. 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, Jhanwar S, Berchuk A, Iglehart JD, Marks J, Ballinger DG, Barrett JC, Skolnick MH, Kamb A, Wiseman R (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science 266:120-122.
14. Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329.
15. Gayther SA, Harrington P, Russell P, Kharkevich G, Garkav T, Sera, RF, Ponder BAJ, UKCCCR familial ovarian cancer study group (1996) Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. Am J Hum Genet 58:451-456.
16. Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, van Rensburg EJ, Dunning AM, Love R, Evans G, Easton D, Clayton D, Stratton MR, Ponder BAJ (1995) Germline mutations of the BRCA1 gene in breast/ovarian cancer families provide evidence for a genotype/ phenotype correlation. Nature Genet 11:428-433.
17. Hogervorst FBL, Cornelis RS, Bout M, van Vliet M, Oosterwiik JC, Olmer R, Bakker B, Klijn JGM, Vasen HFA, Meijers-Heijboer H, Menko FH, Cornelisse CJ, den Dunnen JT, Devilee P, van Ommen GJB (1995) Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genet 10:208-212.
18. Hosking L, Trowsdale J, Nicolai H, Solomon E, Foulkes W, Stamp G, Signer E, Jeffreys A (1995) A somatic BRCA1 mutation in an ovarian tumor. Nature Genet 9:343-344.
19. Inoue R, Fukutomi T, Ushijima T, Matsumoto Y, Sugimura T, Nagao M (1995) Germline mutation of BRCA1 in Japanese breast cancer families. Cancer Res 55:3521-3524.
20. Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA (1996) BRCA1 Mutations in a population-based sample of young women with breast cancer. NEJM 334:137-142.
21. Mashal RD, Koontz J, Sklar J (1995) Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases. Nature Genet 9:177-183.
22. Matsushima M, Kobayashi K, Emi M, Saito H, Saito J, Suzumori K, Nakamura Y (1995) Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: Four germline muta-tions, but no evidence of somatic mutation. Hum Mol Genet 4:1953-1956.
23. Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, Weber BL, Collins FS, Johnston C, Frank TS (1995) Somatic mutations in the BRCA1 gene in sporadic ovarian tumors. Nature Genet 9:439-443.
24. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett M, 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, Cannn-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71.
25. Plummer SJ, Anton-Culver H, Webster L, Noble B, Liao S, Kennedy A, Belinson J, Casey G (1995) Detection of BRCA1 mutations by the protein truncation test. Hum Mol Genet 4:1989-1992.
26. Serova O, Montagna M, Torchard D, Narod SA, Tonin P, Sylla B, Lynch HT, Feunteun J, Lenoir GM (1996) A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet 58:42-51.
27. 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, Jhanmar S, Offit K, Norton L, Gilewski T, Lubin M, Osborne M, Black D, Boyd M, Steel M, Ingles S, Halle R, Lindblom A, Borg A, Bishop DT, Solomon E, Radice P, Spatti G, Gayther S, Ponder B, Warren W, Stratton M, Liu Q-Y, Fujimura F, Lewis C, Skolnick MH, Goldgar DE (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: Implications for presymptomatic testing and screening. JAMA 273:535-541.
28. 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, Goldgar D, Shattuck-Eidens D, Labrie F, Narod SA (1994) Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nature Genet 8:392-398.
29. Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, Collins FS, Tucker MA (1995a) Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet 57:1-7.
30. Struewing JP, Abeliovich D, Peterz T, Avishai N, Kaback MM, Collins FS, Brody LC (1995b) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet 11:198-200.
31. Siabo CI, King M-C (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4:1811-1817.
32. Takahashi H, Behbakht K, McGovern PE, Chiu H-C, Couch FJ, Weber BL, Friedman LS, King M-C, Furusato M, LiVolsi VA, Menzin A, Liu P, Benjamin I, Morgam MA, King SA, Rebane BA, Cardonick A, Mikuta JJ, Rubin SC, Boyd J (1995) Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res 55:2998-3002.
33. Thompson ME, Jensen RA, Obermiller PS, Page DL, Holt JT (1995) Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nature Genet 9:444-450.
34. Tonin P, Serova O, Lenoir G, Lynch H, Durocher F, Simard J, Morgan K, Narod S (1995) BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 57:189.
35. Youil R, Kemper BW, Cotton RGH (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc Natl Acad Sci USA 92:87-91.