Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer

Few studies have reported on the comprehensive BRCA1/2 mutation analyses of hereditary breast cancer (HBC) families of French Canadian descent. Here we report the investigation of 82 families with at least 3 cases of breast cancer evaluated for mutations by DNA sequencing and/or multiplex ligation-d...

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Bibliographic Details
Published in:Familial cancer 2010-12, Vol.9 (4), p.507-517
Main Authors: Cavallone, Luca, Arcand, Suzanna L., Maugard, Christine M., Nolet, Serge, Gaboury, Louis A., Mes-Masson, Anne-Marie, Ghadirian, Parviz, Provencher, Diane, Tonin, Patricia N.
Format: Article
Language:English
Subjects:
Adult
Age Factors
Aged
Aged, 80 and over
Biomedical and Life Sciences
Biomedicine
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast Neoplasms - epidemiology
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Canada - epidemiology
Cancer Research
Cohort Studies
DNA Mutational Analysis
DNA, Neoplasm - genetics
Epidemiology
European Continental Ancestry Group - genetics
Female
Founder Effect
Genetic Predisposition to Disease
Genotype
Germ-Line Mutation - genetics
Human Genetics
Humans
Middle Aged
Polymerase Chain Reaction
Risk Factors
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Summary:Few studies have reported on the comprehensive BRCA1/2 mutation analyses of hereditary breast cancer (HBC) families of French Canadian descent. Here we report the investigation of 82 families with at least 3 cases of breast cancer evaluated for mutations by DNA sequencing and/or multiplex ligation-dependent probe amplification (MLPA) assay. DNA sequencing identified pathogenic mutations in 37 (45.1%) families, of which 70.2% were one of three recurring mutations (BRCA1:R1443X, BRCA2:8765delAG, and BRCA2:E1953X) frequently reported in this founder population; and variants of uncertain clinical significance in 7 (8.5%) families of which two harbored BRCA2:E3002K. MLPA analysis of the 38 DNA sequence-negative families did not reveal any large rearrangements in BRCA1/2. A phenotypic characterization of the cancer families based on pathogenic mutation status revealed that there were significantly fewer very young age at diagnosis breast cancer cases (
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-010-9372-3