Open AccessIdentifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer
Author(s) -
Yi Guo,
Peng Wang,
Xiaorong Li,
Shaihong Zhu,
Hongbo Xu,
Shizhou Li,
Hao Deng,
Lamei Yuan
Publication year - 2019
Publication title -
bioscience reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.938
H-Index - 77
eISSN - 1573-4935
pISSN - 0144-8463
DOI - 10.1042/bsr20182471
Subject(s) - breast cancer , sanger sequencing , genetics , family history , exon , mutation , exome sequencing , gene , genetic testing , cancer , biology , brca2 protein , homologous recombination , medicine , oncology , germline mutation
Breast cancer (BC) is the most common female cancer found worldwide. It is responsible for 25% of all cancer patients in females. Hereditary BC accounts for about 5-10% of all BC cases. The breast cancer 1 gene ( BRCA1 ) and the breast cancer 2 gene ( BRCA2 ) are the two most-studied BC susceptibility genes. Genetic testing for disease-causing mutations in BRCA1, BRCA2 , and other BC susceptibility genes is strongly recommended for members of families having a BC family history. The present study found a heterozygous c.5722_5723del mutation in the BRCA2 exon 11 of a large Han-Chinese BC family using whole exome sequencing and Sanger sequencing. It may cause DNA double-strand breaks repair dysfunction by disturbing homologous recombination, further resulting in BC. The study findings may help supplement and further improve genetic testing strategies and BC risk estimation methodologies in China.