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Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
Agaoglu, Nihat Bugra; Ng, Ozden Hatirnaz; Unal, Busra; Dogan, Ozlem Akgun; Amanvermez, Ufuk; Yildiz, Jale; Doganay, Levent; Ghazani, Arezou A; Rana, Huma Q.
Afiliación
  • Agaoglu NB; Department of Medical Genetics, Division of Cancer Genetics, Umraniye Training and Research Hospital, Istanbul, Turkey; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, United States.
  • Ng OH; Department of Medical Biology, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Acibadem University Rare Diseases and Orphan Drugs Application and Research Cen
  • Unal B; Department of Medical Genetics, Division of Cancer Genetics, Umraniye Training and Research Hospital, Istanbul, Turkey.
  • Dogan OA; Department of Medical Genetics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey; Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
  • Amanvermez U; Department of Genome Studies, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
  • Yildiz J; Department of Medical Genetics, Division of Cancer Genetics, Umraniye Training and Research Hospital, Istanbul, Turkey.
  • Doganay L; Department of Gastroenterology and Hepatology, Umraniye Training and Research Hospital, Umraniye, Istanbul, Turkey.
  • Ghazani AA; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA, United States; Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States; Harvard Medical School, Boston, MA, United States. Electronic address: aghazani@bwh.harvard.edu.
  • Rana HQ; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, United States; Harvard Medical School, Boston, MA, United States; Department of Medical Oncology, Dana-Farber Cancer Institute, 450 Brookline Ave, Boston, MA 02215, United States. Electronic address: HumaQ_rana@dfc
Cancer Genet ; 268-269: 128-136, 2022 11.
Article en En | MEDLINE | ID: mdl-36368126
Concurrent pathogenic variants (PVs) in cancer predisposition genes have been reported in 0.1-2% of hereditary cancer (HC) patients. Determining concurrent PVs is crucial for the diagnosis, treatment, and risk assessment of unaffected family members. Next generation sequencing based diagnostic tests, which are widely used in HCs, enable the evaluation of multiple genes in parallel. We have screened the family members of a patient with bilateral breast cancer who was found to have concurrent PVs in BRCA1 (NM_007294.3;c.5102_5103del, p.Leu1701Glnfs*14) and MUTYH (NM_001128425.1;c.884C>T, p.Pro295Leu). Further analysis revealed concurrent PVs in CHEK2 (NM_007194.4;c.1427C>T, p.Thr476Met) and MUTYH (NM_001128425.1;c.884C>T, p.Pro295Leu) in the maternal uncle of the index case. Eight additional family members were found to have PVs in BRCA1 and MUTYH among 26 tested relatives. The sister and the brother of the index case who were diagnosed with breast and colon cancers, respectively, presented with the same genotype as the index case. Each family member was evaluated individually for clinical care and surveillance. This is the first report describing a family with BRCA1, MUTYH and CHEK2 concurrent PVs. Our findings provide valuable information for the assessment and management considerations for families with concurrent PVs.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Mama / Predisposición Genética a la Enfermedad Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Cancer Genet Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Mama / Predisposición Genética a la Enfermedad Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Cancer Genet Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos