The contribution of LARGE genomic rearrangements of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer families in a clinical cohort
نویسندگان
چکیده
Background The use of multiplex ligation-dependent probe amplification (MLPA) to detect large scale rearrangements is now a standard component of BRCA1 and BRCA2 gene testing in the clinical setting. With the cost of full Sanger sequencing up to 4 times higher than the cost of MLPA, it is important not only to determine the prevalence of these mutations but to ascertain the probability that a family may harbour a large deletion or rearrangement in the BRCA1 and BRCA2 genes. Here we examine the incidence and clinical associations of genomic rearrangements in the BRCA1 and BRCA2 genes in a cohort of index cases from high risk breast and ovarian cancer families recruited from familial cancer centres (FCC).
منابع مشابه
Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark.
Germline mutations in BRCA1 and BRCA2 predispose female carriers to breast and ovarian cancer. The majority of mutations identified are small deletions or insertions or are nonsense mutations. Large genomic rearrangements in BRCA1 are found with varying frequencies in different populations, but BRCA2 rearrangements have not been investigated thoroughly. The objective in this study was to determ...
متن کاملONLINE MUTATION REPORT Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
Introduction: A strong family history of breast and/or ovarian cancer can often be explained by small insertions, deletions, or substitutions in BRCA1 or BRCA2 and large genomic rearrangements in BRCA1. However, there is little evidence that genomic rearrangements are a major factor in BRCA2 associated breast cancer and the frequencies of rearrangements in BRCA1 in large clinic based population...
متن کاملLarge genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families.
INTRODUCTION A strong family history of breast and/or ovarian cancer can often be explained by small insertions, deletions, or substitutions in BRCA1 or BRCA2 and large genomic rearrangements in BRCA1. However, there is little evidence that genomic rearrangements are a major factor in BRCA2 associated breast cancer and the frequencies of rearrangements in BRCA1 in large clinic based populations...
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 کاملGenomic rearrangements in BRCA1 and BRCA2: A literature review
Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some h...
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