Phenocopy in a patient with triple negative breast cancer: a case report
Tipo
Artigo
Data de publicação
2023
Periódico
Einstein (Sao Paulo, Brazil)
Citações (Scopus)
0
Autores
Costa G.H.M.D.
Dias E.S.
Pegoraro N.B.
Kohler C.N.
Raskin S.
Mikami L.R.
Dias E.S.
Pegoraro N.B.
Kohler C.N.
Raskin S.
Mikami L.R.
Orientador
Título da Revista
ISSN da Revista
Título de Volume
Membros da banca
Programa
Resumo
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 . The patient underwent genetic testing for BRCA1 and BRCA2 and exome sequencing. Familial or other cancer variants were not detected. The most accepted phenocopy theory is that patients without genetic variants but who are carriers of these mutations undergo cellular changes due to environmental factors, increasing the risk of breast cancer. Therefore, the detection of phenocopy in patients with breast cancer is important in clinical practice.
Descrição
Palavras-chave
Assuntos Scopus
Adult , Breast Neoplasms , Female , Genetic Predisposition to Disease , Genetic Testing , Humans , Mutation , Phenotype , Triple Negative Breast Neoplasms