[Germ-line mutations of the BRCA1 gene in northeastern France].
Copyright policy )[Germ-line mutations of the BRCA1 gene in northeastern France].
Thirty-seven breast/ovarian or breast-only cancer families selected on a regional basis have been analyzed for mutations at BRCA1. By combining direct sequence analysis and protein truncation test, mutations were detected in 14 families (38%). We found seven different mutations, two of which have not been described before. Mutations at BRCA1 were present in 60% of breast/ovarian and 32% of breast-only cancer families. Mutations were frequent in families with at least one breast cancer case before age 40 (44%) and/or one bilateral breast cancer case (54%). Two mutations, namely 3600del11 and G1710X, are frequent in the population native from northeastern France. Oriented BRCA1 analysis should facilitate carrier detection in breast and/or ovarian cancer families stemming from this French area.
- La Porte Hospital United States
Adult, Male, Ovarian Neoplasms, Age Factors, Genes, BRCA1, Breast Neoplasms, Sequence Analysis, DNA, Middle Aged, Breast Neoplasms, Male, Neoplastic Syndromes, Hereditary, Humans, Female, France, Germ-Line Mutation
Adult, Male, Ovarian Neoplasms, Age Factors, Genes, BRCA1, Breast Neoplasms, Sequence Analysis, DNA, Middle Aged, Breast Neoplasms, Male, Neoplastic Syndromes, Hereditary, Humans, Female, France, Germ-Line Mutation
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).6 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!