Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Abstract

Background Knowledge of pathogenic variants in cancer‐predisposing genes is important when making breast cancer treatment decisions, but genetic testing is not universal and criteria must be met to qualify for genetic testing. The objective of this study was to evaluate the pathogenic variant yield for nine cancer predisposition genes by testing criteria, singly and in combination. Methods Women diagnosed with breast cancer between June 2013 and May 2018 were recruited from four centers in Toronto, Canada. Participants completed a demographics and family history questionnaire and clinical characteristics were collected from medical charts. Genetic testing was done for BRCA1 , BRCA2 , PALB2 , ATM , CHEK2 , BRIP1 , RAD51D , RECQL , and TP53 . Pathogenic variant frequencies were calculated according to five criteria (age ≤ 50, triple‐negative breast cancer, family history, bilateral breast cancer, or Jewish ethnicity). Results Of the 1006 women studied, 100 women (9.9%) were found to have a pathogenic variant in one of the nine genes tested. The highest prevalence of pathogenic variants was found in women with triple‐negative breast cancer (23%). Of the 100 pathogenic variants detected, 78 were detected in women diagnosed at age 50 or less. A total of 96% of the mutations were identified with three criteria (age of diagnosis, family history, and triple‐negative status). Conclusions Genetic testing criteria for women with breast cancer should include women with triple‐negative breast cancer, regardless of age. All women aged 50 years or below at time of breast cancer diagnosis should be offered genetic testing.

Looking for BRCA1 and BRCA2 mutations in Asian women with breast cancer

“…In a review of our recent testing outcomes in Ontario we found that two criteria—age of onset less than 50 and triple-negative status—allowed us to pick up the majority of mutation carriers ( 10 ). Adding in family history-testing of women with one or more first-degree relatives with ovarian cancer or early-onset breast cancer (less than age 40) picked up a few more.…”