A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel

AbstractBRCA1 andBRCA2 are two prominent genes that account for about 20 –40% of inherited breast cancer. Mutations in these genes are often associated with clustering of especially early-onset cancers in the family. The spectrum ofBRCA variants showed a significant difference between geographic regions and ethnicities. The frequency and spectrum ofBRCA mutations in Iran, a country in southwest Asia, have not yet been thoroughly studied. Here, for the first time, all published and not publishedBRCA pathogenic variants are presented. Among 1040 high risk families (1258 cases) which were detected, 116 families were found to carry pathogenic variants in eitherBRCA1 orBRCA2. Altogether 89 distinct types of pathogenic variants have been detected in Iran, including 41 inBRCA1 and 48 inBRCA2. 16 out of 89 mutations had not been previously reported in Iran  and are presented for the first time in this article, among which 4 mutations are novel worldwide. 20% of families had one of the seven most commonly observed mutations, including c.81-1G >  C, c.66_67delAG, c.4609C>T, c.1568delT, c.1961delA, inBRCA1 and: c.3751_3752insA, c.8585dupT inBRCA2. Combining the data from published articles and our study which has not been published before, a comprehensive table is created as a reference for entireBRCA pathogenic variants and their frequencies in Iran.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research