Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversity Hospital of Southern Denmark-
Autor(es): dc.contributorUniversity of Brasília-UnB-
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorSENAI CIMATEC-
Autor(es): dc.contributorA.C. Camargo Cancer Center-
Autor(es): dc.contributorHospital Sirio-Libanês-
Autor(es): dc.contributorUniversity of Southern Denmark-
Autor(es): dc.contributorDanish Colorectal Cancer Center South-
Autor(es): dc.creatorVillacis, Rolando André Rios-
Autor(es): dc.creatorCôrtes, Luiza-
Autor(es): dc.creatorBasso, Tatiane Ramos-
Autor(es): dc.creatordo Canto, Luisa Matos-
Autor(es): dc.creatorSouza, Jeferson Santos-
Autor(es): dc.creatorAagaard, Mads Malik-
Autor(es): dc.creatorda Cruz Formiga, Maria Nirvana-
Autor(es): dc.creatorAguiar, Samuel-
Autor(es): dc.creatorAchatz, Maria Isabel-
Autor(es): dc.creatorRogatto, Silvia Regina-
Data de aceite: dc.date.accessioned2025-08-21T18:32:55Z-
Data de disponibilização: dc.date.available2025-08-21T18:32:55Z-
Data de envio: dc.date.issued2025-04-29-
Data de envio: dc.date.issued2024-10-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.3390/ijms251910275-
Fonte completa do material: dc.identifierhttps://hdl.handle.net/11449/303715-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/303715-
Descrição: dc.descriptionA hereditary component of breast (BC) and colorectal cancer (CRC) has been described in approximately one-third of these tumor types. BC patients have an increased risk of developing CRC as a second primary tumor and vice versa. Germline genomic variants (NextSeq550, Illumina) were investigated in 24 unrelated BC and/or CRC patients and 7 relatives from 3 index patients. Fifty-six pathogenic or likely pathogenic variants were identified in 19 of 24 patients. We detected single-nucleotide variants (SNVs) in CRC predisposition genes (MLH1 and MUTYH) and other promising candidates (CDK5RAP3, MAD1L1, NOS3, and POLM). Eighteen patients presented SNVs or copy number variants (CNVs) in DNA damage repair genes. We also identified SNVs recently associated with BC or CRC predisposition (PABPC1, TYRO3, MAP3K1, SLC15A4, and LAMA1). The PABPC1c.1255C>T variant was detected in nine unrelated patients. Each patient presented at least one SNV/CNV in a candidate gene, and most had alterations in more than one gene, reinforcing a polygenic model for BC/CRC predisposition. A significant fraction of BC/CRC patients with a family history of these tumors harbored deleterious germline variants in DNA repair genes. Our findings can lead to strategies to improve the diagnosis, genetic counseling, and treatment of patients and their relatives.-
Descrição: dc.descriptionDepartment of Clinical Genetics University Hospital of Southern Denmark, Beriderbakken 4-
Descrição: dc.descriptionDepartment of Genetics and Morphology Institute of Biological Sciences University of Brasília-UnB, DF-
Descrição: dc.descriptionTocogynecology Graduation Program Medical School São Paulo State University UNESP, SP-
Descrição: dc.descriptionHealth Technology Institute SENAI CIMATEC, BA-
Descrição: dc.descriptionDepartment of Oncogenetics and Clinical Oncology A.C. Camargo Cancer Center, SP-
Descrição: dc.descriptionColorectal Cancer Reference Center A.C. Camargo Cancer Center, SP-
Descrição: dc.descriptionCancer Genetics Unit Oncology Branch Hospital Sirio-Libanês, SP-
Descrição: dc.descriptionInstitute of Regional Health Research Faculty of Health Sciences University of Southern Denmark-
Descrição: dc.descriptionDanish Colorectal Cancer Center South-
Descrição: dc.descriptionBotucatu Medical School Hospital São Paulo State University UNESP, SP-
Descrição: dc.descriptionTocogynecology Graduation Program Medical School São Paulo State University UNESP, SP-
Descrição: dc.descriptionBotucatu Medical School Hospital São Paulo State University UNESP, SP-
Idioma: dc.languageen-
Relação: dc.relationInternational Journal of Molecular Sciences-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectbreast cancer-
Palavras-chave: dc.subjectcancer predisposition-
Palavras-chave: dc.subjectcolorectal cancer-
Palavras-chave: dc.subjectgermline variants-
Palavras-chave: dc.subjecthereditary cancer-
Palavras-chave: dc.subjectwhole exome sequencing-
Título: dc.titleGermline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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