Phenocopy in a patient with triple negative breast cancer: a case report

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dc.contributor.authorCosta G.H.M.D.
dc.contributor.authorDias E.S.
dc.contributor.authorPegoraro N.B.
dc.contributor.authorKohler C.N.
dc.contributor.authorRaskin S.
dc.contributor.authorMikami L.R.
dc.date.accessioned2024-09-01T06:19:53Z
dc.date.available2024-09-01T06:19:53Z
dc.date.issued2023
dc.description.abstractA 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.
dc.description.firstpageeRC0319
dc.description.volume21
dc.identifier.doi10.31744/einstein_journal/2023RC0319
dc.identifier.issnNone
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/39300
dc.relation.ispartofEinstein (Sao Paulo, Brazil)
dc.rightsAcesso Aberto
dc.titlePhenocopy in a patient with triple negative breast cancer: a case report
dc.typeArtigo
local.scopus.citations0
local.scopus.eid2-s2.0-85178543126
local.scopus.subjectAdult
local.scopus.subjectBreast Neoplasms
local.scopus.subjectFemale
local.scopus.subjectGenetic Predisposition to Disease
local.scopus.subjectGenetic Testing
local.scopus.subjectHumans
local.scopus.subjectMutation
local.scopus.subjectPhenotype
local.scopus.subjectTriple Negative Breast Neoplasms
local.scopus.updated2025-04-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178543126&origin=inward
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