Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families
نویسندگان
چکیده
منابع مشابه
Large 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 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 کاملThe relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.
The demand for BRCA1 and BRCA2 mutation screening is increasing as their identification will affect medical management. However, both the contribution of different mutation types in BRCA1 and BRCA2 and whom should be offered testing for large genomic rearrangements have not been well established in the U.S. high-risk population. We define the prevalence and spectrum of point mutations and genom...
متن کاملBRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.
Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two ...
متن کاملRisk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families.
Women from site-specific hereditary breast cancer families who carry a BRCA1 or BRCA2 mutation are at increased risk for ovarian cancer. It is less clear, however, whether individuals from hereditary breast cancer families who do not carry such a mutation are also at increased ovarian cancer risk. To determine whether women from BRCA mutation-negative hereditary breast cancer families are at in...
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ژورنال
عنوان ژورنال: Breast Cancer Research and Treatment
سال: 2008
ISSN: 0167-6806,1573-7217
DOI: 10.1007/s10549-008-0088-0