Читать книгу Constitutional Oncogenetics - Noureddine Boukhatem - Страница 17

Approximately one in 300–400 people in the general population is born with an inherited mutation in the BRCA1 or BRCA2 gene. The frequency of BRCA1 or BRCA2 mutation is approximately one in 40 in the Ashkenazi Jewish population.

PALB2 pathogenic variants have been examined in multiple small studies of familial and early breast cancer in multiple populations. The prevalence of pathogenic variants ranged from 0.4% to 3.9%. Similar to BRIP1 and CHEK2, there was incomplete segregation of PALB2 pathogenic variants in families with hereditary breast cancer.

It is estimated that mutations in RAD51C increase the risk of ovarian cancer by 9% and occur in approximately 1–5.7% of women with ovarian cancer (without considering any selection criteria).

It is estimated that one in 200 people with ovarian cancer will have a constitutional mutation in the RAD51D gene.

When should one suspect a genetic predisposition? The following section outlines the criteria for referral for an oncogenetic consultation, according to the National Comprehensive Cancer Network (NCCN).