Abstract
The aim of this study was to evaluate the prevalence and spectrum of a known founder mutation, 5382insC and large genomic rearrangements (LGRs) in BRCA1 in ovarian cancer patients in Turkey. The additional aim was to determine the genetic testing strategy in Turkish breast/ovarian cancer family. Six hundred and sixty-seven ovarian cancer patients from five large geographical regions in Turkey, 61 of which had family history of breast/ovarian cancer, were tested for the mutation 5382insC by mutagenically separated polymerase chain reaction and direct sequencing of the entire coding sequence and the splicing sites. Additionally, multiplex ligation-dependent probe amplification (MLPA) was performed for large mutational scanning of BRCA1 gene in unselected ovarian cancer. In this study, BRCA1 point mutations were observed in 1% of all patients and 9.8% of familial cases: 5382insC, unique novel missense variant-G1748S and unclassified splice site variant IVS20+5A>T. 5382insC was observed in two patients. However, G1748S, previously unreported, was found in four patients and thus led to the conclusion that this mutation may be unique to Turkey. A splice site variant, IVS20+5A>T, was detected in three patients, with two of them includ...Continue Reading
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Citations
Jun 3, 2014·Cancer Investigation·Gulsah CecenerTurkkan Evrensel
Jul 19, 2015·Journal of Medical Genetics·Ava KwongSung-Won Kim
Oct 20, 2015·Molecular Diagnosis & Therapy·Elisabete Weiderpass, Jerzy E Tyczynski
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Nov 9, 2016·Breast Cancer Research and Treatment·Muhammad U RashidUte Hamann