J Breast Cancer.  2017 Sep;20(3):310-313. 10.4048/jbc.2017.20.3.310.

A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer

Affiliations
  • 1Department of Biochemistry, College of Veterinary Medicine, Konkuk University, Seoul, Korea.
  • 2Genetic Counseling Clinic, National Cancer Center Hospital, National Cancer Center, Goyang, Korea.
  • 3Department of System Cancer Science, Graduate School of Cancer Science and Policy, National Cancer Center, Goyang, Korea.
  • 4Translational Epidemiology Branch, National Cancer Center Research Institute, National Cancer Center, Goyang, Korea.
  • 5Department of Biomedical Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. suhwan.chang@amc.seoul.kr
  • 6Center for Breast Cancer, National Cancer Center Hospital, National Cancer Center, Goyang, Korea.
  • 7Precision Medicine Branch, National Cancer Center Research Institute, National Cancer Center, Goyang, Korea.

Abstract

Germline mutations in the BRCA1 and BRCA2 genes are strong genetic factors for predispositions to breast, ovarian, and other related cancers. This report describes a family with a history of breast and ovarian cancers that harbored a novel BRCA1 germline mutation. A single nucleotide deletion in intron 20, namely c.5332+4delA, was detected in a 43-year-old patient with breast cancer. This mutation led to the skipping of exon 20, which in turn resulted in the production of a truncated BRCA1 protein that was 1773 amino acids in length. The mother of the proband had died due to ovarian cancer and had harbored the same germline mutation. Ectopically expressed mutant BRCA1 protein interacted with the BARD1 protein, but showed a reduced transcriptional function, as demonstrated by the expression of cyclin B1. This novel germline mutation in the BRCA1 gene caused familial breast and ovarian cancers.

Keyword

BRCA1 protein; Breast neoplasms; Germ-line mutation

MeSH Terms

Adult
Amino Acids
BRCA1 Protein
Breast Neoplasms*
Breast*
Cyclin B1
Exons*
Genes, BRCA1
Genes, BRCA2
Germ-Line Mutation*
Humans
Introns
Mothers
Ovarian Neoplasms
Amino Acids
BRCA1 Protein
Cyclin B1
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