A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening

D Shattuck-Eidens, M McClure, J Simard, F Labrie… - Jama, 1995 - jamanetwork.com
Objectives.—To report the initial experience of an international group of investigators in
identifying mutations in theBRCA1breast and ovarian cancer susceptibility gene, to assess
the spectrum of such mutations in samples from patients with different family histories of
cancer, and to determine the frequency of recurrent mutations. Design.—Nine laboratories in
North America and the United Kingdom tested forBRCA 1mutations in DNA samples
obtained from a total of 372 unrelated patients with breast or ovarian cancer largely chosen …
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