The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

Nature Genetics

Volumn 12, Issue 3, 1996, Pages 333-337

  Tavtigian, S V ^a   Simard, J ^b   Rommens, J ^c   Couch, F ^d   Shattuck Eidens, D ^a   Neuhausen, S ^e   Merajver, S ^f   Thorlacius, S ^g   Offit, K ^h   Stoppa Lyonnet, D ⁱ   Belanger, C ^b   Bell, R ^a   Berry, S ^a   Bogden, R ^a   Chen, Q ^a   Davis, T ^a   Dumont, M ^b   Frye, C ^a   Hattier, T ^a   Jammulapati, S ^a   Janecki, T ^a   Jiang, P ^a   Kehrer, R ^a   Leblanc, J F ^b   Mitchell, J T ^a   McArthur Morrison, J ^c   Nguyen, K ^e   Peng, Y ^d   Samson, C ^b   Schroeder, M ^a   Snyder, S C ^a   Steele, L ^e   Stringfellow, M ^a   Stroup, C ^a   Swedlund, B ^a   Swensen, J ^e   Teng, D ^a   Thomas, A ^a   Tran, T ^a,e   Tranchant, M ^b   Weaver Feldhaus, J ^a   Wong, A K C ^a   Shizuya, H ^j   Eyfjord, J E ^g   Cannon Albright, L ^e   Labrie, F ^b   Skolnick, M H ^a,e   Weber, B ^d   Kamb, A ^a   Goldgar, D E ^e,k   more..

^a Myriad Genetic Laboratories   (United States)

^b LAVAL UNIVERSITY   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g ICELANDIC CANCER SOCIETY   (Iceland)

^h MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

ⁱ INSTITUT CURIE   (France)

^j CALIFORNIA INSTITUTE OF TECHNOLOGY   (United States)

^k INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CARCINOGENESIS; BREAST CARCINOMA; CANCER RISK; CHROMOSOME 13Q; GENE MUTATION; HUMAN; PRIORITY JOURNAL; RNA TRANSLATION; SEQUENCE ANALYSIS;

BASE SEQUENCE; BRCA2 PROTEIN; BREAST NEOPLASMS, MALE; CELL LINE; CHROMOSOMES, HUMAN, PAIR 13; CLONING, MOLECULAR; DNA PRIMERS; EXONS; FEMALE; GENE EXPRESSION; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; OVARIAN NEOPLASMS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 13344269668     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0396-333     Document Type: Article

References (17)

1. Kelsey, J.L. & Gammon, M.D. The epidemiology of breast cancer. CA Cancer J. Clinic, 41, 147-165 (1991).
2. Hall, J.M et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250, 1684-1689 (1990)
3. Miki, Y et al. A strong candidated for the 17q-linked breast and ovarian cancer susceptibility gene BBCA1. Science 266, 66-71 (1994)
4. Wooster, R. et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13 Science 265, 2088-2090 (1994).
5. Wooster, R. et al. Identification of the breast cancer gene BRCA2 Nature 378, 789-791 (1995).
6. Schutte, M et al. Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region Proc. Natl. Acad. Sci USA 92, 5950-5954 (1995).
7. Stone, S. et al. Complex structure and regulation of the P16 (MTS1) locus. Cancer Res. 55, 2988-2994 (1995)
8. Simard, J. et al. Generation of a transcription map of the BRCA2 region. Am. J. Hum. Genet., 57, (suppl) 1556 (1995)
9. Friedman, L.S. et al Novel inherited mutations and variable expressivity of BRCA1 alleles including the founder mutation 185 del AG in Ashkenazi Jewish families. Am. J Hum Genet. 57, 1284-1297 (1995)
10. Szabo, CJ & King, M-C. Inherited breast and ovarian cancer. Hum Mol. Genet, 4, 1811-1817 (1985)
11. Shattuck-Eidens, D. et al. A comparative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: Implication for presymptomatic testing and screening. JAMA 273, 535-541 (1995).
12. Parimoo, S. et al. cDNA selection Efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments. Proc Natl. Acad. Sci USA 88, 9623-9627 (1991).
13. Rommens, J M. et al Towards a transcriptional map of the q21-q22 region of chromosome 7 In 'Identification of transcribed sequences', (eds Hochgeschwender, U. & Gardiner, K) pp 65-79 (Plenum Press, New York, 1994).
14. Lovett, M., Kere, J & Hinton, L.M Direct selection. A method for the isolation of cDNAs encoded by large genomic regions Proc. Natl. Acad. Sci. USA 88, 9628-9632 (1991)
15. Hattier, T et al Analysis of hybrid selection in the search for BRCA1 Mamm. Genome 6, 873-879 (1995).
16. Church, D M. et al. Identification of human chromosome 9 specific genes using exon amplification. Hum. Mol. Genet 2, 1915 (1993)
17. Kamb, A et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus Nature Genet 8, 22-29 (1994).