A novel method to detect the Mexican founder mutation BRCA1 ex9‑12del associated with breast and ovarian cancer using quantitative polymerase chain reaction and TaqMan® probes.

ABSTRACT: In 2015, according to the National Institute of Statistics and Geography (INEGI), malignant breast tumors were the first cause of cancer fatality in women (6,273 fatalities) in Mexico, whereas 2,793 fatalities in women were due to ovarian cancer. A total of 5‑10% of breast cancer and 10‑15% of ovarian cancer cases are caused by a hereditary breast‑ovarian cancer syndrome, with mutations predominantly identified in the BRCA1 and BRCA2 genes. Recently, the Mexican founder mutation BRCA1 ex9‑12del was identified (deletion of exons 9‑12 with recombination between introns 8‑12). This is the most frequently reported mutation in hereditary breast/ovarian cancer in Mexico. Current detection methods include end‑point polymerase chain reaction (PCR) and Multiplex Ligation‑dependent Probe Amplificati

SUBMITTER: Martinez-Trevino DA 

PROVIDER: S-EPMC6072190 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature