BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.

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 bre...

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Detalles Bibliográficos
Autores principales: Lancaster, J. M., Carney, M. E., Gray, J., Myring, J., Gumbs, C., Sampson, J., Wheeler, D., France, E., Wiseman, R., Harper, P., Futreal, P. A.
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group|1 1998
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063207/
https://www.ncbi.nlm.nih.gov/pubmed/9836472
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author Lancaster, J. M.
Carney, M. E.
Gray, J.
Myring, J.
Gumbs, C.
Sampson, J.
Wheeler, D.
France, E.
Wiseman, R.
Harper, P.
Futreal, P. A.
author_facet Lancaster, J. M.
Carney, M. E.
Gray, J.
Myring, J.
Gumbs, C.
Sampson, J.
Wheeler, D.
France, E.
Wiseman, R.
Harper, P.
Futreal, P. A.
author_sort Lancaster, J. M.
collection PubMed
description 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.
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spelling pubmed-20632072009-09-10 BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1. Lancaster, J. M. Carney, M. E. Gray, J. Myring, J. Gumbs, C. Sampson, J. Wheeler, D. France, E. Wiseman, R. Harper, P. Futreal, P. A. Br J Cancer Research Article 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. Nature Publishing Group|1 1998-12 /pmc/articles/PMC2063207/ /pubmed/9836472 Text en https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/.
spellingShingle Research Article
Lancaster, J. M.
Carney, M. E.
Gray, J.
Myring, J.
Gumbs, C.
Sampson, J.
Wheeler, D.
France, E.
Wiseman, R.
Harper, P.
Futreal, P. A.
BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
title BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
title_full BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
title_fullStr BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
title_full_unstemmed BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
title_short BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
title_sort brca1 and brca2 in breast cancer families from wales: moderate mutation frequency and two recurrent mutations in brca1.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063207/
https://www.ncbi.nlm.nih.gov/pubmed/9836472
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