The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer
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 کاملLarge genomic BRCA2 rearrangements and male breast cancer.
BACKGROUND Germ-line mutations of the BRCA2 gene are the highest known risk factors for male breast cancer (MBC). Mutations in BRCA2 are mainly point mutations in contrast to BRCA1 in which large genomic rearrangements are quite common. In recent literature, however, genomic alterations of BRCA2 have been linked especially to male breast cancer families. We wanted to screen large genomic deleti...
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 کاملGenetic diagnosis of cancer: diagnosis of mutations in BRCA1 and BRCA2 in breast cancer
During the last two decays the tremendous success in molecular biology and genetics which has surprised the entire world. So that today the sequencing of whole genome has been possible for each human individual to estimate its being affected with cardiovascular and cancer diseases. However, these achievements have some important limitations and deep ethical issues which might be ignored. Geneti...
متن کاملThe contribution of LARGE genomic rearrangements of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer families in a clinical cohort
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 f...
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ژورنال
عنوان ژورنال: BMC Cancer
سال: 2020
ISSN: 1471-2407
DOI: 10.1186/s12885-020-06917-y