| Literature DB >> 33477375 |
Ava Kwong1,2,3, Cecilia Y S Ho4, Vivian Y Shin1, Chun Hang Au4, Tsun Leung Chan3,4, Edmond S K Ma3,4.
Abstract
The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.Entities:
Keywords: Chinese; Fanconi anemia; compound heterozygous mutations; hereditary breast cancer
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Year: 2021 PMID： 33477375 PMCID： PMC7830606 DOI： 10.3390/ijms22020889
Source DB: PubMed Journal: Int J Mol Sci ISSN： 1422-0067 Impact factor: 5.923