Article
Mutations of the BRCA1 gene in human cancer.
Seminars in cancer biology - 1 Feb 1996
Xu C F, Solomon E
Abstract excerpt
BRCA1 is a putative tumour suppressor gene located on chromosome 17q21. It spans 100kb of genomic DNA and encodes a protein of 200kD consisting of 1863 amino acids. Sixty-three distinct germline mutations of BRCA1 have now been identified in more than 100 patients with breast and/or ovarian cancer. These mutations are distributed across the entire coding region of the BRCA1 gene, and the majority (87%) are...
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