A novel germline BRCA1 mutation identified in a family with hereditary breast and ovarian cancer syndrome

Author:

Wu Yanmei1,Pan Xiaodong2,Dou Juan1,Zhang Quan1,Li Yuantong3,Sheng Yuan1ORCID,Liu Xishui1

Affiliation:

1. Department of Breast and Thyroid Surgery, Changhai Hospital, Navy Medical University, Shanghai, China

2. Dinfectome Medical Technology Inc., Shanghai, China

3. Department of Biology, Brandeis University, Waltham, MA, USA

Abstract

Pathogenic germline mutations occurring in the BRCA1 (MIM:113705) and BRCA2 (MIM: 600185), which always result in truncated protein or nonsense-mediated mRNA decay, have been identified to increase the risk of hereditary breast, ovarian, pancreatic, prostate, and melanoma cancers. Recent studies show that BRCA1/2 germline mutations also contribute to half of all hereditary breast and ovarian cancer (HBOC). In this case series, we reported a novel frameshift mutation of the BRCA1 gene. This novel frameshift mutation occurs in exon10 of BRCA1 and may result in a lack of the serine cluster domain and BRCA1 C-terminus domain, which mediates the function of BRCA1 in DNA repair and are responsible for activation function of BRCA1. The mutation was present in a Chinese hereditary male/female breast and ovarian cancer family characterized by a high incidence of breast cancer and/or ovarian cancer among the relatives and by a high incidence of triple negative breast cancer (TNBC). Our findings speculate that BRCA1 E1148Rfs*7 mutation may be related to the occurrence of HBOC and even TNBC. Interestingly, three cases of TNBC with this novel BRCA1 mutation in this case series showed a good disease-free survival, one of them has a disease-free survival up to 7 years. Therefore, further study is required to confirm that whether this mutation is associated with good prognosis of HBOC.

Publisher

SAGE Publications

Subject

Oncology

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