Jessica Lee1, Lindsay R Gubernick2, Allison L Brodsky2, Julia E Fehniger1, Douglas A Levine1, Deanna Gerber1, Shabnam A Asgari3, Anna Cantor3, Jessica T Martineau3, Ophira M Ginsburg3, Julia A Smith3, Bhavana Pothuri4. 1. New York University Langone Health, Division of Gynecologic Oncology, Laura and Isaac Perlmutter Cancer Center, 240 East 38th Street, New York, NY, USA. 2. New York University School of Medicine, 550 First Avenue, New York, NY, USA. 3. New York University Langone Health, Laura and Isaac Perlmutter Cancer Center, High-Risk Cancer Program, 160 East 34th Street, New York, NY, USA. 4. New York University Langone Health, Division of Gynecologic Oncology, Laura and Isaac Perlmutter Cancer Center, 240 East 38th Street, New York, NY, USA. Electronic address: bhavana.pothuri@nyumc.org.
Abstract
OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVES: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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: Erica M Bednar; Charlotte C Sun; Bethsaida Camacho; John Terrell; Alyssa G Rieber; Lois M Ramondetta; Ralph S Freedman; Karen H Lu Journal: Gynecol Oncol Date: 2018-12-08 Impact factor: 5.482
Authors: Marilyn Huang; Tegan Hunter; Lydia A Fein; Johnny Galli; Sophia George; Matthew Schlumbrecht; Kelly McCarter; Abdulrahman K Sinno; Luiz P Guido; Andre Pinto Journal: Sci Rep Date: 2021-06-03 Impact factor: 4.379