Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer

Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing...

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Published in:	Gynecologic oncology Vol. 151; no. 1; pp. 153 - 158
Main Authors:	Lee, Jessica, Gubernick, Lindsay R., Brodsky, Allison L., Fehniger, Julia E., Levine, Douglas A., Gerber, Deanna, Asgari, Shabnam A., Cantor, Anna, Martineau, Jessica T., Ginsburg, Ophira M., Smith, Julia A., Pothuri, Bhavana
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-10-2018
Subjects:	Endometrial cancer Genetic counseling Lynch syndrome Mismatch repair Genetic counseling Endometrial cancer Mismatch repair Lynch syndrome
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Summary:	Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates in an ethnically diverse group of high-risk women. All women diagnosed with EC between 2011 and 2016 were identified. Risk factors for LS including age, family and personal histories of Lynch-related cancers and loss of tumor mismatch repair (MMR) protein expression were identified from laboratory and medical records. Standard two-sided statistical tests were used. Of 583 women diagnosed with EC, 184 (31.6%) were found to have at least one high-risk characteristic for LS. Among these high-risk women, 58% were given GCR and resulting in only 35% undergoing GT. Ten of the 65 high-risk women who had GT (15.4%) were diagnosed with Lynch syndrome, and all ten met high-risk criteria. Two women of Asian race had tumors exhibiting retained MMR protein expression despite germline testing demonstrating Lynch syndrome. Many high-risk women do not receive GCR despite a high rate of germline mutations among these women. Improving GCR among high-risk women will lead to more subsequent GT to identify more Lynch syndrome families and prevent additional cancers. Among our ethnically diverse cohort, two women diagnosed with LS had retained MMR protein expression. GCR should be offered to women who possess high-risk characteristics despite normal MMR protein expression. •Women with endometrial cancer who have high-risk criteria for Lynch syndrome are not given genetic counseling referrals.•Only one third of high-risk women underwent genetic testing for Lynch syndrome.•There are women with Lynch syndrome who do not have loss of mismatch repair protein expression on tumor immunohistochemistry.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0090-8258 1095-6859
DOI:	10.1016/j.ygyno.2018.07.023