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Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets |
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| Institution: | 1. Department of Medical Oncology, Ioannina University Hospital, Ioannina, Greece;2. Department of Pathology, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece;3. Health Data Specialists Ltd, Athens, Greece;4. Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece;5. Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece;6. Department of Clinical Therapeutics, Alexandra Hospital, University of Athens School of Medicine, Athens, Greece;7. Division of Oncology, Department of Medicine, University Hospital, University of Patras Medical School, Patras, Greece;8. Third Department of Medical Oncology, Theagenion Cancer Hospital, Thessaloniki, Greece;9. Oncology Section, Second Department of Internal Medicine, Hippokration Hospital, Athens, Greece;10. Third Department of Medical Oncology, Agii Anargiri Cancer Hospital, Athens, Greece;11. Department of Medical Oncology, University Hospital of Larissa, University of Thessaly School of Medicine, Larissa, Greece;1. Department of Clinical Biochemistry, University of Athens Medical School, Attikon University Hospital, Haidari, Greece;2. Anatomic Pathology Laboratory, Evgenidio Hospital, University of Athens Medical School, Haidari, Greece |
| Abstract: | BRCA1/2 genes with high-penetrance are tumor suppressor and tumor susceptibility genes that play important roles in the homologous recombination mechanism in DNA repair and increase breast cancer risk. Variants in BRCA1 or BRCA2 are the main causes of familial and early-onset breast cancer. This study investigated pathogenic variant belonging to the BRCA2 gene splice region in monozygotic triplets. A 44-year-old woman was diagnosed with breast cancer when she was 32 years old. Her monozygotic sister had a history of breast cancer. No malignancy was detected in the third one of the monozygotic triplets. Sanger sequencing was used to evaluate the BRCA1/2 gene status of the patient and family members. It was figured out that they had the same genetic variant, a heterozygous germ-line splice region variant (c.7008-1G > C) in the BRCA2 gene. This novel splice region variant may be a new pathogenic variant of the BRCA2 gene. Its association with breast cancers needs to be further verified in more patient cases. |
| Keywords: | BRCA A novel variant Breast cancer Pathogenic BRCA"} {"#name":"keyword" "$":{"id":"kwrd0035"} "$$":[{"#name":"text" "_":"breast cancer susceptibility gene BC"} {"#name":"keyword" "$":{"id":"kwrd0045"} "$$":[{"#name":"text" "_":"breast cancer |
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