Large genomic rearrangements in BRCA1 and BRCA2 genes in breast and ovarian cancer families in Poland
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 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 ...
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background: brca1 and brca2 genes have been recognized to be responsible for 20-30% of hereditary breast cancers and approximately 50% of familial breast and ovarian cancers. therefore, the demand for brca1 and brca2 mutation screening is rapidly increasing as their identification will affect medical management of people at increased risk. because of high costs involved in analysis of brca1 a...
متن کاملThe importance of BRCA1 and BRCA2 genes mutations in breast cancer development
Many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. Among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. Early detection of mutation carriers in these genes, in turn, can play an import...
متن کاملSequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer
BACKGROUND BRCA1 and BRCA2 genes have been recognized to be responsible for 20-30% of hereditary breast cancers and approximately 50% of familial breast and ovarian cancers. Therefore, the demand for BRCA1 and BRCA2 mutation screening is rapidly increasing as their identification will affect medical management of people at increased risk. Because of high costs involved in analysis of BRCA1 and ...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2012
ISSN: 1897-4287
DOI: 10.1186/1897-4287-10-s1-a1