Article
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer.
Journal of human genetics - 1 Jul 2023
Akin Duman Tugba, Ozturk Fatma Nihal
Abstract excerpt
Germline mutations in BRCA1 and BRCA2 genes are mainly responsible for breast and/or ovarian cancer patients. Most of the mutations in these genes are single nucleotide changes or deletions/insertions of small numbers of bases, while a minority of mutations in these genes are large genomic rearrangements (LGRs). The frequency of LGRs in the Turkish population is not clearly known. Also insufficient awareness of...
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