BARD1 missense variation c.1803A> in man with breast cancer: case report

Introduction: Breast cancer in men is one of the rare cancers. It occurs in less than 1% of men withcancer and the incidence of that is increasing. There are some factors involved in development ofbreast cancer in men such as: age, genetic factors (family history, BRCA2> BRCA1), life style,obesity, 5-10% of men with BRCA2 mutations develop breast cancer. On the other hand, BARD1mutation have been reported in women breast cancer. It has been suggested that BARD1 plays arole in various functions associated with DNA repair and tumour suppression both independentlyand in combination with BRCA1. In our case study, we have found missense variation in BARD1gene in man who was reported with breast cancer. Also, he has strong family history that willreport in pedigree.Materials Methods: Breast surgery and radiotherapy were done for proband. Also, we didgenetic counseling for him and his family to confirm the pattern of cancer inheritance. In addition,the proband has been evaluated for pathogenic gene variation by whole exome sequencing (WES).Results: heterozygous missense variation in exon of the BARD1 gene that results in the aminoacid substitution of Glycine for Aspartic acid at codon 601 was detected.Conclusion: In this family, cancer inheritance pattern has been seen, but BARD1 variation isclassified as uncertain significance variant because has not been reported in the 1000 genomedatabase. With this family history we should focus on other affected family members and more casestudies for possible confirmation of this variant as pathogenic.