A targeted analysis identifies a high frequency of BRCA1/2 mutation carriers in women with ovarian cancer from a founder population

Journal of Ovarian Research - open access

Background

The frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients varies depending on histological subtype and population investigated. The six most commonly recurring BRCA1 and BRCA2 mutations previously identified in a founder French Canadian population were investigated in 439 histologically defined ovarian, fallopian tube and primary peritoneal cancer cases that were ascertained at one hospital servicing French Canadians. To further assess the frequency of BRCA1/BRCA2 mutations, a defined subgroup of 116 cases were investigated for all mutations previously reported in this population. 

 Conclusions

Our results reaffirm that specific BRCA1 and BRCA2 mutations found previously to recur in French Canadian breast cancer and breast-ovarian cancer families, also recur in women with ovarian cancer not selected for family history of cancer. The high frequency of mutation carriers rationalizes genetic testing of ovarian cancer patients in this demographically defined population. 

 ........During the course of this investigation the Society for Gynecologic Oncology issued a clinical practice statement encouraging the medical community to offer genetic counselling and testing to all women with ovarian, fallopian tube and peritoneal carcinoma (www.sgo.org webcite), but The Society of Gynecologic Oncology of Canada (www.g-o-c.org webcite) has yet to propose its own recommendations......