Evidence for constitutional mutations in patients with multiple BCCs
- Univ. of California, San Francisco, CA (United States); and others
Basal cell nevus syndrome (BCNS) is an autosomal dominant disease, one of whose prominent phenotypic features is a large number of cutaneous basal cell carcinomas. The gene whose mutation underlies this disease has been mapped to chromosome 9q22.3-q31, and basal cell carcinomas frequently have allelic losses at this area. We have reported recently that the chromosome 9q22.3-q31 alleles lost in 57% (24/42) of basal cell carcinomas from BCNS patients were those alleles predicted by linkage to contain the wild type gene, as is expected for a tumor suppressor gene. We have extended this work to patients with multiple basal cell carcinomas with no other phenotypic manifestations of BCNS. We found in two individuals that 88% (30 out of 34) had loss of heterozygosity (LOH) in this region. Surprisingly, in both patients the allele lost in tumors was not random; it was the same in 29/30 tumors (19 form one patient and 10 from the other). This suggests that constitutional mutations in the BCNS gene region may underlie skin carcinomas in patients without BCNS. The mutations may have been somatic, because neither of one patient`s two adult sons have BCCs even though they have inherited different copies of his 9q.
- OSTI ID:
- 133476
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0204
- 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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