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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

引用

Cancer Communications 2021年第3期41卷 218-228页

作者： Rosario Ferrer-Avargues Maria Isabel Castillejo Estela Damaso Virginia Diez-Obrero Noemi Garrigos Tatiana Molina Alan Codoner-Alejos Angel Segura Ana Beatriz Sanchez-Heras Adela Castillejo Jose Luis Soto Foundation for the Promotion of Health and Biomedical Research of Valencia Region(FISABIO) FISABIO-Elche Health DepartmentElche 032303Spain Molecular Genetics Unit.Elche University Hospital Elche 032303Spain Department of Molecular Biopathology Immunological Center of AlicanteSan Juan-Alicante 03550Spain Medical Oncology Department Cancer Genetic Counseling Unit.La Fe University HospitalValencia 46026Spain Medical Oncology Department Cancer Genetic Counseling Unit.Elche University HospitalElche 03203Spain

Background:Lynch syndrome(LS)is a hereditary condition characterized by a high risk of colorectal cancer,endometrial cancer,and other neoplasia associated with germline alterations in DNA mismatch repair *** classical genetic diagnostic strategy for LS consists of the Sanger sequencing of genes associated with the suspected ***-generation sequencing(NGS)enables the simultaneous sequencing of a large number of hereditary cancer ***,we aimed to study whether other germline pathogenic variants of hereditary cancer genes are present in patients with ***:A cohort of 84 probands with a previous genetic diagnosis of LS by Sanger sequencing was reanalyzed using NGS via a commercial panel of 94 hereditary cancer genes by hybrid *** American College of Medical Genetics and Genomics criteria were used to classify the clinical significance of the *** findings of NGS were confirmed by Sanger *** possible,genetic analyses of the new findings in the proband’s relativeswere also performed by Sanger ***:We identified five families(6%),out of 84,with at least two germline pathogenic variants conferring to high or moderate risk in different dominant cancer-predisposing genes:[MLH1-BRCA2-NBN],[MLH1-BRCA1],[MSH2-ATM],[MSH6-NF1],and[MLH1-FANCA].Interestingly,only one out of these five families exhibited a clinical phenotype associated with the new pathogenic *** family with three pathogenic variants of the[MLH1-BRCA2-NBN]genes showed a high aggregation of tumors associated with LS and breast and ovarian cancer ***:Our results showed that the co-occurrence of more than one pathogenic variant in cancer-predisposing genes was remarkable among cases of *** cases,no clinicial manifestations were associated with the secondary pathogenic *** studies are needed to confirm these findings and elucidate their clinical *** of LS families should be considered only in fa

关键词： cancer panel hereditary cancer lynch syndrome moderate penetrance genes multilocus inherited neoplasia alleles syndrome next-generation sequencing secondary findings

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