1 results
10/Nov/2023
DOI: 10.31744/einstein_journal/2023RC0319
ABSTRACT A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%–10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to those with genetic origin occur because of environmental factors rather than familial mutations. We describe a case of phenocopy in a 44-year-old female patient with triple-negative breast cancer. The mother and sister wee heterozygous for c.1813delA, p.Ile605TyrfsTer9 in BRCA2 […]
Keywords: Breast neoplasms; Genes BRCA1; Genes BRCA2; Genetic predisposition to disease; Mutation; Phenotype