ASCO Annual Meeting

ASCO Annual Meeting

Perspective from Jubilee Brown, MD
Perspective from Veda N. Giri, MD
June 05, 2017
3 min read

High-risk women with endometrial cancer often do not receive genetic counseling referral

Perspective from Jubilee Brown, MD
Perspective from Veda N. Giri, MD
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CHICAGO — Genetic counseling referrals and testing appeared underutilized among high-risk women diagnosed with endometrial cancer, according to study results presented at the ASCO Annual Meeting.

“Genetic testing offers a unique opportunity to prevent cancer,” Stephanie V. Blank, MD, gynecologic oncologist at Icahn School of Medicine at Mount Sinai, told HemOnc Today. “Genetic testing is likely underutilized for patients with endometrial cancer. By identifying mutations in women with endometrial cancer, we can heighten screening for other cancers and test family members.”

Stephanie V. Blank

Because Lynch syndrome accounts for the majority of inherited endometrial cancers, its identification could help to treat and prevent multiple malignancies in patients and their relatives.

“This is now even more relevant with the potential of novel immunotherapy agents for women with germline mutations,” Blank and colleagues wrote. “The diagnosis of endometrial cancer can provide the indication for women with specific risk factors to undergo genetic testing.”

The researchers evaluated receipt of genetic counseling referrals and subsequent genetic testing rates in 447 women with endometrial cancer based on risk factors including age, BMI, positive family history —defined as two or more family members with Lynch syndrome–related cancers — and tumor mismatch repair protein expression loss.

In total, 107 women received genetic counseling referrals by their gynecologic oncologist based on their discretion.

Women given genetic counseling referrals appeared significantly younger (median age, 54 vs. 65 years; P < .0001) and had lower BMI (median, 28.2 vs. 30.8; P = .007) than women who did not receive genetic counseling referrals.

Of the 107 women offered genetic counseling referrals, 71 underwent genetic testing. Eight of these women harbored a germline mutation in one of the mismatch repair genes.

“Many young, thin women with endometrial cancer with a family history or a tumor mismatch repair deficiency are not given genetic counseling referrals,” Blank and colleagues wrote. “Among genetic counseling referral women, 66% underwent genetic testing, despite there being a high rate of germline mutations among these women.”

Among the high-risk cohorts, only 56% of those aged younger than 50 years, 28% of those with a family history, and 61% of those with loss of tumor mismatch repair proteins received genetic counseling referrals.

“It is imperative that high-risk women receive genetic counseling referrals with subsequent genetic testing to capture the maximum number with Lynch syndrome to screen and prevent additional cancers as well as enable cascade testing in family members,” Blank and colleagues wrote. “Facilitated pathways may be helpful in increasing genetic counseling referrals, as well as genetic testing in women with endometrial cancer.” – by Kristie L. Kahl


Lee J, et al. Abstract 1503. Presented at: ASCO Annual Meeting; June 2-6, 2017; Chicago.

Disclosure: Blank reports stock and other ownership interests in Johnson & Johnson, and travel, accommodations and expenses from Roche. Please see the abstract for a list of all other researchers’ relevant financial disclosures.