Brca1 and brca2 in breast cancer families from wales: moderate mutation frequency and two recurrent mutations in brca1

ABSTRACT Mutations in the BRCA1/BRCA2 genes account for varying proportions of breast cancer families studied, and demonstrate considerable variation in mutational spectra coincident with

ethnic and geographical diversity. We have screened for mutations in 17 families from Wales with two or more cases of breast cancer under age 50 and/or ovarian cancer. Eight out of 17 (47%)

families had demonstrable mutations. Six out of 17 (35%) carried BRCA1 mutations and 2 out of 17 (12%) carried BRCA2 mutations. Two recurrent mutations in BRCA1 were identified, which appear

to represent founder mutations in this population. These data support the existence of additional breast and ovarian cancer susceptibility genes. Access through your institution Buy or

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INVESTIGATION OF MONOGENIC CAUSES OF FAMILIAL BREAST CANCER: DATA FROM THE BEACCON CASE-CONTROL STUDY Article Open access 11 June 2021 GENETIC, CLINIC AND HISTOPATHOLOGIC CHARACTERIZATION

OF _BRCA-_ASSOCIATED HEREDITARY BREAST AND OVARIAN CANCER IN SOUTHWESTERN FINLAND Article Open access 25 April 2022 A CASE-ONLY STUDY TO IDENTIFY GENETIC MODIFIERS OF BREAST CANCER RISK FOR

_BRCA1/BRCA2_ MUTATION CARRIERS Article Open access 17 February 2021 AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Surgery, Duke University Medical Center, Durham, 27710, NC,

USA JM Lancaster Authors * JM Lancaster View author publications You can also search for this author inPubMed Google Scholar * ME Carney View author publications You can also search for this

author inPubMed Google Scholar * J Gray View author publications You can also search for this author inPubMed Google Scholar * J Myring View author publications You can also search for this

author inPubMed Google Scholar * C Gumbs View author publications You can also search for this author inPubMed Google Scholar * J Sampson View author publications You can also search for

this author inPubMed Google Scholar * D Wheeler View author publications You can also search for this author inPubMed Google Scholar * E France View author publications You can also search

for this author inPubMed Google Scholar * R Wiseman View author publications You can also search for this author inPubMed Google Scholar * P Harper View author publications You can also

search for this author inPubMed Google Scholar * PA Futreal View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and

permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Lancaster, J., Carney, M., Gray, J. _et al._ _BRCA1_ and _BRCA2_ in breast cancer families from Wales: moderate mutation frequency and two

recurrent mutations in _BRCA1_. _Br J Cancer_ 78, 1417–1420 (1998). https://doi.org/10.1038/bjc.1998.701 Download citation * Issue Date: 01 December 1998 * DOI:

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