BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients

Germline pathogenic variants in the tumour suppressor genes BRCA1 and BRCA2 (BRCA1/2) confer high risks of developing breast/ovarian cancer. Since the discovery of these genes in the early 1990s, BRCA1/2 genetic testing has been offered to an increasing number of hereditary breast/ovarian cancer (HBOC) patients and families due to its proven clinical benefits. However, only a proportion of HBOC families are explained by deleterious variants in these genes and about 40-50% of the cases remain unresolved [1 –3].
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research