{"doi":"10.1007/s10689-017-9973-1","title":"Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens","abstract":null,"journal":"Familial Cancer","year":2017,"id":606485,"datarank":0.48283137373023016,"base_score":3.2188758248682006,"endowment":3.2188758248682006,"self_citation_contribution":0.48283137373023016,"citation_network_contribution":0.0,"self_endowment_contribution":0.48283137373023016,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":24,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1395639,"name":"Shiyu Zhang","orcid":"0009-0008-5766-6061","position":1,"is_corresponding":false},{"id":175604,"name":"Deborah Cragun","orcid":null,"position":2,"is_corresponding":false},{"id":509615,"name":"Ji-Hyun Lee","orcid":"0000-0002-4576-3998","position":3,"is_corresponding":false},{"id":1466058,"name":"Domenico Coppola","orcid":"0009-0008-3540-2014","position":4,"is_corresponding":false},{"id":380510,"name":"John McLaughlin","orcid":"0000-0001-6453-7577","position":5,"is_corresponding":false},{"id":6547,"name":"Harvey A. Risch","orcid":"0000-0001-5337-3941","position":6,"is_corresponding":false},{"id":6550,"name":"Barry Rosen","orcid":null,"position":7,"is_corresponding":false},{"id":504595,"name":"Patricia Shaw","orcid":"0000-0002-6994-8647","position":8,"is_corresponding":false},{"id":6444,"name":"Thomas A. Sellers","orcid":"0000-0002-7832-0405","position":9,"is_corresponding":false},{"id":75542,"name":"Joellen Schildkraut","orcid":null,"position":10,"is_corresponding":false},{"id":6557,"name":"Steven A. Narod","orcid":"0000-0001-5798-0626","position":11,"is_corresponding":false},{"id":37465,"name":"Tuya Pal","orcid":"0000-0001-8009-2475","position":12,"is_corresponding":false},{"id":581654,"name":"Mohammad R. Akbari","orcid":"0000-0002-8851-3614","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens","abstract":"A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available. Among the 656 women, only four (0.6%) carried a clearly pathogenic MMR mutation. All four cancers from patients with mutations had loss of two or more microsatellite markers (MSI-high). Eighty-four of 652 (13.0%) women without a mutation had MSI-high ovarian cancers. Using MSI-high as a prescreening criterion, the sensitivity of MSI testing to identify germline MMR gene mutations was 100% and the positive predictive value was 4.5%. Germline mutations in MLH1, MSH2 and MSH6 are rare among unselected cases of ovarian cancer. Patients with germline mutations often will have MSI-positive cancers and pre-screening of ovarian cancer specimens may be an efficient way of identifying patients with Lynch syndrome.","is_dataset_classified":null,"base_score":3.2188758248682006,"endowment":3.2188758248682006,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28176205","pmcid":null,"openalex_id":"https://openalex.org/W2587463960","authors":[],"funders":[{"funder_name":"Division of Cancer Prevention, National Cancer Institute","grant_id":"R01 CA111914","title":null},{"funder_name":"Division of Cancer Prevention, National Cancer Institute","grant_id":"K07 CA108987","title":null},{"funder_name":"Division of Cancer Prevention, National Cancer Institute","grant_id":"R01 CA063678","title":null},{"funder_name":"Division of Cancer Prevention, National Cancer Institute","grant_id":"R01 CA080978","title":null},{"funder_name":"Division of Cancer Prevention, National Cancer Institute (US)","grant_id":"R01 CA063682","title":null},{"funder_name":"National Institutes of Health","grant_id":"5R01CA063682-05","title":"GENETIC/EPIDEMIOLOGY STUDY OF EPITHELIAL OVARIAN TUMORS"},{"funder_name":"National Institutes of Health","grant_id":"5R01CA080978-03","title":"THE NATURAL HISTORY OF HEREDITARY BREAST CANCER"},{"funder_name":"National Institutes of Health","grant_id":"5R01CA111914-03","title":"Ovarian Cancer and Mismatch Repair Deficiency"},{"funder_name":"National Institutes of Health","grant_id":"3R01CA063678-01S1","title":"PREVENTION OF HEREDITARY BREAST AND OVARIAN CANCER"},{"funder_name":"National Institutes of Health","grant_id":"5K07CA108987-05","title":"Clinical Relevance of Mismatch Repair in Ovarian Cancer"}],"total_grants":10,"fwci":1.5476,"citation_percentile":0.8103784,"influential_citations":0,"citation_trend":[{"year":2017,"count":1},{"year":2018,"count":5},{"year":2019,"count":1},{"year":2020,"count":2},{"year":2021,"count":7},{"year":2022,"count":4},{"year":2023,"count":1},{"year":2024,"count":1},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"closed","license":"Springer TDM","oa_locations":[{"url":"http://link.springer.com/article/10.1007/s10689-017-9973-1/fulltext.html","host_type":"publisher"},{"url":"http://link.springer.com/content/pdf/10.1007/s10689-017-9973-1.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1007/s10689-017-9973-1","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/28176205","host_type":"repository"},{"url":"https://dx.doi.org/10.1007/s10689-017-9973-1","host_type":""}],"fields_of_study":["Genetic factors in colorectal cancer","Cancer Genomics and Diagnostics","Colorectal Cancer Screening and Detection","03 medical and health sciences","0302 clinical medicine","Biomarkers, Tumor","Carcinoma, Ovarian Epithelial","DNA Mismatch Repair","DNA-Binding Proteins","Female","Germ-Line Mutation","Humans","Microsatellite Instability","Middle Aged","MutL Protein Homolog 1","MutS Homolog 2 Protein","Neoplasms, Glandular and Epithelial","Ovarian Neoplasms","Sensitivity and Specificity"],"mesh_terms":["MutL Protein Homolog 1","Carcinoma, Ovarian Epithelial","DNA-Binding Proteins","Female","Humans","Middle Aged","Neoplasms, Glandular and Epithelial","Ovarian Neoplasms","Sensitivity and Specificity","Biomarkers, Tumor","Germ-Line Mutation","MutS Homolog 2 Protein","Microsatellite Instability","DNA Mismatch Repair"],"keywords":["MSH6","MSH2","MLH1","Microsatellite instability","Lynch syndrome","Germline mutation","Germline","Ovarian cancer","DNA mismatch repair","Biology","Genetics","Genetic testing","Cancer","Cancer research","Mutation","Oncology","Medicine","Microsatellite","Gene","Colorectal cancer","Allele","Ovarian Neoplasms","Carcinoma, Ovarian Epithelial","Middle Aged","Sensitivity and Specificity","DNA-Binding Proteins","MutS Homolog 2 Protein","Biomarkers, Tumor","Humans","Female","Neoplasms, Glandular and Epithelial","MutL Protein Homolog 1","Germ-Line Mutation"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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