Although ovarian cancer is the third most common Lynch syndrome (LS)-associated cancer in women, there is no established screening strategy to identify LS in this population. It is hypothesized that an adequate family history may help identify patients suspected of LS, prompting a referral to genetic assessment. Researchers previously validated the four-item brief Family History Questionnaire (bFHQ) in endometrial cancers.

In a recent study, their objective was to assess whether bFHQ can be used as a screening tool to identify women with ovarian cancer at risk of LS. Women with newly diagnosed non-serous/non-mucinous ovarian cancer completed bHFQ, extended Family History Questionnaire, and immunohistochemistry (IHC) for mismatch repair (MMR) proteins and universal germline testing for LS.

The performance characteristics were compared between bFHQ, eFHQ, and IHC. Of 215 participants, 79% were evaluable with both bFHQ and germline mutation status; 7% were confirmed to have LS.  A total of 75% with LS were correctly identified by bFHQ, compared to 55% by eFHQ and 85% by IHC. While IHC was the most sensitive and specific approach, bFHQ was more sensitive than eFHQ and took less than 10 minutes for each patient to complete.