Article
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family.
Human molecular genetics - 1 Sept 1997
Swensen J, Hoffman M, Skolnick M H, Neuhausen S L
Abstract excerpt
BRCA1 is a breast and ovarian cancer susceptibility gene. An inferred germline regulatory mutation was previously reported in the BRCA1-linked kindred K2035, based on the absence of transcripts from the BRCA1 allele associated with the cancer susceptibility haplotype. In this study, the promoter region of BRCA1 was examined in individuals from K2035 for evidence of a mutation which could halt transcription....
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