Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing
نویسندگان
چکیده
منابع مشابه
Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.
BACKGROUND Large genomic rearrangements (LGRs) account for a substantial proportion of the BRCA1 disease-causing changes, or variations, identified in families with hereditary breast/ovarian cancer [HB(O)C]. Great differences in the spectrum and prevalence of BRCA1 LGR have been observed among populations. Here we report the first comprehensive analysis of BRCA1 LGRs conducted in Spain. METHO...
متن کاملLarge genomic rearrangements in BRCA1 and BRCA2 genes in breast and ovarian cancer families in Poland
Mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. The large majority of the alterations identified in these genes are point mutations and small insertion/deletion. However, an increasing number of large genomic rearrangements are being identified, especially in BRCA1. To date 161 and 39 gene alterations have been described in the literature, approximately for...
متن کاملConformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.
Previously, an assay called conformation sensitive gel electrophoresis (CSGE) was developed for scanning PCR products for the presence of single-base and larger base mismatches in DNA. The assay was based on the assumption that mildly denaturing solvents in an appropriate buffer can accentuate the conformational changes produced by single-base mismatches in double-stranded DNA and thereby incre...
متن کاملNo Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families.
The discovery of deleterious mutations in the breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, has facilitated the identification of individuals at particularly high risk of these diseases. There is a wide variation between populations in the prevalence and related risks of various types of BRCA1/2 mutations, so estimates cannot be extrapolated to Canadians, especially not found...
متن کاملBRCA1 and BRCA2 Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families
BACKGROUND Breast cancer is the leading cause of cancer death in women in Algeria. The contribution of BRCA1 and BRCA2 mutations to hereditary breast/ovarian cancer in Algerian population is largely unknown. Here, we describe analysis of BRCA1 and BRCA2 genes in 86 individuals from 70 families from an Algerian cohort with a personal and family history suggestive of genetic predisposition to bre...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/303076