Founder mutations of BRCA1 and BRCA2 / 国际肿瘤学杂志

ABSTRACT

Mutations of BRCA1 and BRCA2 are closely related to developing of breast cancer andovarian cancer. There are a great diversity of founder mutations of BRCA1 and BRCA2. Their types and fre quency are greatly different in populations from different geographic regions and ethnicities. In particular ethnicgroups, founder mutations show a high frequency due to a founder effect. Compared with the expensive wholegenomic scan, screening of founder mutations which could provide information for the prevention and treatmentof related cancer is more convenient and easy to popularize with low cost.