Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets

Duzkale N., EYERCİ N., Oksuzoglu B., Teker T., Kandemir O.

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.63, no.4, 2020 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 63 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1016/j.ejmg.2019.103771
  • Journal Indexes: Science Citation Index Expanded, Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Keywords: BRCA, A novel variant, Breast cancer, Pathogenic, RISKS, OVARIAN


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.