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Article

A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient.

International journal of molecular sciences - 17 Jan 2021

Kwong Ava, Ho Cecilia Y S, Shin Vivian Y, Au Chun Hang, Chan Tsun Leung, Ma Edmond S K

Abstract excerpt

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...

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Identifiers

PMID: 33477375
DOI: 10.3390/ijms22020889
PMCID: PMC7830606

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