Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study
Germline (Lynch syndrome, LS) and somatic deficiencies of mismatch repair proteins (MMRd) are linked to colorectal and endometrial cancer; however, their prognostic impact in Asian populations remains unclear. This prospective cohort study aimed to determine the prevalence and outcome of germline an...
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| Veröffentlicht in: | Cancers 2024-06, Vol.16 (13), p.2342 |
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| creator | Yeh, Jiunn-Tyng Peng, Hung-Pin Hung, Fei-Hung Hung, Chen-Fang Hsieh, Ling-Ling Yang, An-Suei Wang, Yong Alison |
| description | Germline (Lynch syndrome, LS) and somatic deficiencies of mismatch repair proteins (MMRd) are linked to colorectal and endometrial cancer; however, their prognostic impact in Asian populations remains unclear. This prospective cohort study aimed to determine the prevalence and outcome of germline and somatic MMRd in cancer patients suspected of LS. Patients with colorectal or endometrial cancer suspected of LS were enrolled and underwent gene sequencing for germline MMRd (gMMRd) and immunohistochemistry staining of MMR proteins in a subset of the pathological samples (pMMRd). Among the 451 enrolled patients, 36 patients were gMMRd (+). Compared with gMMRd (-) patients, the 10-year relapse-free survival in gMMRd (+) patients was significantly higher (100% vs. 77.9%;
= 0.006), whereas the 10-year overall survival was similar (100% vs. 90.9%;
= 0.12). Among the 102 gMMRd (-) patients with available pMMR status, 13.7% were pMMRd (+). The 5-year relapse-free survival was 62.9% in gMMRd (-) pMMRd (+) patients and 35.0% in gMMRd (-) pMMRd (-) patients, both lower than gMMRd (+) patients (100%;
< 0.001). This study showed that having LS confers a favorable outcome in colorectal and endometrial cancer patients and highlights the importance of germline genetic testing following the detection of somatic MMRd. |
| doi_str_mv | 10.3390/cancers16132342 |
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= 0.006), whereas the 10-year overall survival was similar (100% vs. 90.9%;
= 0.12). Among the 102 gMMRd (-) patients with available pMMR status, 13.7% were pMMRd (+). The 5-year relapse-free survival was 62.9% in gMMRd (-) pMMRd (+) patients and 35.0% in gMMRd (-) pMMRd (-) patients, both lower than gMMRd (+) patients (100%;
< 0.001). This study showed that having LS confers a favorable outcome in colorectal and endometrial cancer patients and highlights the importance of germline genetic testing following the detection of somatic MMRd.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers16132342</identifier><identifier>PMID: 39001404</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Antigens ; Automation ; Cloning ; Colorectal cancer ; DNA methylation ; DNA sequencing ; Endometrial cancer ; Endometrium ; Genes ; Genetic screening ; Genetic testing ; Genomes ; Immunohistochemistry ; Medical diagnosis ; Medical prognosis ; Mismatch repair ; Mutation ; Patients ; Point mutation ; Population studies ; Survival ; Survival analysis ; Tumorigenesis ; Tumors ; Uterine cancer ; Yeast</subject><ispartof>Cancers, 2024-06, Vol.16 (13), p.2342</ispartof><rights>2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c250t-cbc03ecc454441db8cdd8454a44d65028af23d55276c5b3ffd72116a6e714e603</cites><orcidid>0000-0002-4699-873X ; 0000-0001-7361-348X ; 0000-0003-2595-1892 ; 0000-0001-9453-916X ; 0000-0002-9398-8120</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39001404$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yeh, Jiunn-Tyng</creatorcontrib><creatorcontrib>Peng, Hung-Pin</creatorcontrib><creatorcontrib>Hung, Fei-Hung</creatorcontrib><creatorcontrib>Hung, Chen-Fang</creatorcontrib><creatorcontrib>Hsieh, Ling-Ling</creatorcontrib><creatorcontrib>Yang, An-Suei</creatorcontrib><creatorcontrib>Wang, Yong Alison</creatorcontrib><title>Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study</title><title>Cancers</title><addtitle>Cancers (Basel)</addtitle><description>Germline (Lynch syndrome, LS) and somatic deficiencies of mismatch repair proteins (MMRd) are linked to colorectal and endometrial cancer; however, their prognostic impact in Asian populations remains unclear. This prospective cohort study aimed to determine the prevalence and outcome of germline and somatic MMRd in cancer patients suspected of LS. Patients with colorectal or endometrial cancer suspected of LS were enrolled and underwent gene sequencing for germline MMRd (gMMRd) and immunohistochemistry staining of MMR proteins in a subset of the pathological samples (pMMRd). Among the 451 enrolled patients, 36 patients were gMMRd (+). Compared with gMMRd (-) patients, the 10-year relapse-free survival in gMMRd (+) patients was significantly higher (100% vs. 77.9%;
= 0.006), whereas the 10-year overall survival was similar (100% vs. 90.9%;
= 0.12). Among the 102 gMMRd (-) patients with available pMMR status, 13.7% were pMMRd (+). The 5-year relapse-free survival was 62.9% in gMMRd (-) pMMRd (+) patients and 35.0% in gMMRd (-) pMMRd (-) patients, both lower than gMMRd (+) patients (100%;
< 0.001). This study showed that having LS confers a favorable outcome in colorectal and endometrial cancer patients and highlights the importance of germline genetic testing following the detection of somatic MMRd.</description><subject>Antigens</subject><subject>Automation</subject><subject>Cloning</subject><subject>Colorectal cancer</subject><subject>DNA methylation</subject><subject>DNA sequencing</subject><subject>Endometrial cancer</subject><subject>Endometrium</subject><subject>Genes</subject><subject>Genetic screening</subject><subject>Genetic testing</subject><subject>Genomes</subject><subject>Immunohistochemistry</subject><subject>Medical diagnosis</subject><subject>Medical prognosis</subject><subject>Mismatch repair</subject><subject>Mutation</subject><subject>Patients</subject><subject>Point mutation</subject><subject>Population studies</subject><subject>Survival</subject><subject>Survival analysis</subject><subject>Tumorigenesis</subject><subject>Tumors</subject><subject>Uterine cancer</subject><subject>Yeast</subject><issn>2072-6694</issn><issn>2072-6694</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpdkUtLxTAQhYMoKuranQTc6OJqXk1ad1KuD_Ci-FiXNJlipG2uSSq494cbn4jZJId8c2aGg9AuJUecV-TY6NFAiFRSzrhgK2iTEcVmUlZi9c97A-3E-ETy4ZwqqdbRRq4mVBCxid4WLg46mUd8C0vtAj5YLG4P8TmMgBdT0sn5Edc6BJc74Qv9AvhMv_ig2x7w9ZSMHwC7jPjeBzBJ91iPFs9Hmz9ScFnXn2Oe4FN8E3xcZshll9o_-pDwXZrs6zZa63QfYef73kIPZ_P7-mJ2dX1-WZ9ezQwrSJqZ1hAOxohCCEFtWxpryyy0EFYWhJW6Y9wWBVPSFC3vOqsYpVJLUFSAJHwLHXz5LoN_niCmZnDRQN_rEfwUG05UVUqilMzo_j_0yU9hzNN9UGVVkYryTB1_USZvFgN0zTK4QYfXhpLmI6PmX0a5Yu_bd2oHsL_8TyL8HUB7jTM</recordid><startdate>20240626</startdate><enddate>20240626</enddate><creator>Yeh, Jiunn-Tyng</creator><creator>Peng, Hung-Pin</creator><creator>Hung, Fei-Hung</creator><creator>Hung, Chen-Fang</creator><creator>Hsieh, Ling-Ling</creator><creator>Yang, An-Suei</creator><creator>Wang, Yong Alison</creator><general>MDPI AG</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7TO</scope><scope>7XB</scope><scope>8FE</scope><scope>8FH</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-4699-873X</orcidid><orcidid>https://orcid.org/0000-0001-7361-348X</orcidid><orcidid>https://orcid.org/0000-0003-2595-1892</orcidid><orcidid>https://orcid.org/0000-0001-9453-916X</orcidid><orcidid>https://orcid.org/0000-0002-9398-8120</orcidid></search><sort><creationdate>20240626</creationdate><title>Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study</title><author>Yeh, Jiunn-Tyng ; Peng, Hung-Pin ; Hung, Fei-Hung ; Hung, Chen-Fang ; Hsieh, Ling-Ling ; Yang, An-Suei ; Wang, Yong Alison</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c250t-cbc03ecc454441db8cdd8454a44d65028af23d55276c5b3ffd72116a6e714e603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Antigens</topic><topic>Automation</topic><topic>Cloning</topic><topic>Colorectal cancer</topic><topic>DNA methylation</topic><topic>DNA sequencing</topic><topic>Endometrial cancer</topic><topic>Endometrium</topic><topic>Genes</topic><topic>Genetic screening</topic><topic>Genetic testing</topic><topic>Genomes</topic><topic>Immunohistochemistry</topic><topic>Medical diagnosis</topic><topic>Medical prognosis</topic><topic>Mismatch repair</topic><topic>Mutation</topic><topic>Patients</topic><topic>Point mutation</topic><topic>Population studies</topic><topic>Survival</topic><topic>Survival analysis</topic><topic>Tumorigenesis</topic><topic>Tumors</topic><topic>Uterine cancer</topic><topic>Yeast</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yeh, Jiunn-Tyng</creatorcontrib><creatorcontrib>Peng, Hung-Pin</creatorcontrib><creatorcontrib>Hung, Fei-Hung</creatorcontrib><creatorcontrib>Hung, Chen-Fang</creatorcontrib><creatorcontrib>Hsieh, Ling-Ling</creatorcontrib><creatorcontrib>Yang, An-Suei</creatorcontrib><creatorcontrib>Wang, Yong Alison</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Research Library</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Cancers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yeh, Jiunn-Tyng</au><au>Peng, Hung-Pin</au><au>Hung, Fei-Hung</au><au>Hung, Chen-Fang</au><au>Hsieh, Ling-Ling</au><au>Yang, An-Suei</au><au>Wang, Yong Alison</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study</atitle><jtitle>Cancers</jtitle><addtitle>Cancers (Basel)</addtitle><date>2024-06-26</date><risdate>2024</risdate><volume>16</volume><issue>13</issue><spage>2342</spage><pages>2342-</pages><issn>2072-6694</issn><eissn>2072-6694</eissn><abstract>Germline (Lynch syndrome, LS) and somatic deficiencies of mismatch repair proteins (MMRd) are linked to colorectal and endometrial cancer; however, their prognostic impact in Asian populations remains unclear. This prospective cohort study aimed to determine the prevalence and outcome of germline and somatic MMRd in cancer patients suspected of LS. Patients with colorectal or endometrial cancer suspected of LS were enrolled and underwent gene sequencing for germline MMRd (gMMRd) and immunohistochemistry staining of MMR proteins in a subset of the pathological samples (pMMRd). Among the 451 enrolled patients, 36 patients were gMMRd (+). Compared with gMMRd (-) patients, the 10-year relapse-free survival in gMMRd (+) patients was significantly higher (100% vs. 77.9%;
= 0.006), whereas the 10-year overall survival was similar (100% vs. 90.9%;
= 0.12). Among the 102 gMMRd (-) patients with available pMMR status, 13.7% were pMMRd (+). The 5-year relapse-free survival was 62.9% in gMMRd (-) pMMRd (+) patients and 35.0% in gMMRd (-) pMMRd (-) patients, both lower than gMMRd (+) patients (100%;
< 0.001). This study showed that having LS confers a favorable outcome in colorectal and endometrial cancer patients and highlights the importance of germline genetic testing following the detection of somatic MMRd.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>39001404</pmid><doi>10.3390/cancers16132342</doi><orcidid>https://orcid.org/0000-0002-4699-873X</orcidid><orcidid>https://orcid.org/0000-0001-7361-348X</orcidid><orcidid>https://orcid.org/0000-0003-2595-1892</orcidid><orcidid>https://orcid.org/0000-0001-9453-916X</orcidid><orcidid>https://orcid.org/0000-0002-9398-8120</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Antigens Automation Cloning Colorectal cancer DNA methylation DNA sequencing Endometrial cancer Endometrium Genes Genetic screening Genetic testing Genomes Immunohistochemistry Medical diagnosis Medical prognosis Mismatch repair Mutation Patients Point mutation Population studies Survival Survival analysis Tumorigenesis Tumors Uterine cancer Yeast |
| title | Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study |
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