A 45-year followup study of breast and other cancers in kindred 107 and linkage analysis of candidate loci
- Univ. of Utah, Salt Lake City, UT (United States); and others
One of the earliest large kindreds with inherited susceptibility to breast cancer was reported by Gardner and Stephens in 1950. This family, denoted K107, was ascertained in 1947 by a genetics student with two great aunts who died of breast cancer in their 40`s. Subsequent clinical and genealogical follow-up identified 7 additional cases of early-onset breast cancer. The family was updated several times, most notably in 1980. For the present study K107 was recently reinvestigated and over 75 blood samples gathered for genotyping. The kindred now contains 38 cases of female breast cancer, 3 cases of male breast cancer, and 6 cases of ovarian cancer, 18 of which have been identified since the 1980 report. Examination of the obligate carriers demonstrates that that gene responsible for the breast and ovarian cancer in K107 is highly penetrant. Other cancers appear to be associated with expression of this gene, most notably prostate cancer, melanoma, and uterine cancer. Linkage to the BRCA1 region in K107 was excluded based upon the analysis of genotypings at four loci covering the BRCA1 gene on chromosome 17q has been excluded in this family, using four highly polymorphic markers in the BRCA1 region (multipoint LOD score -3.27). Eight other candidate breast cancer susceptibility genes and candidate regions, including p53 and ESR have also been tested for linkage and excluded. Studies to formally re-estimate penetrance and test for excesses of all cancer sites and a genomic search in this family are in progress.
- OSTI ID:
- 133503
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0231
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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