Faculdade Evangélica Mackenzie do Paraná , Curitiba , PR , Brazil .
Centro de Aconselhamento e Laboratório Genetika , Curitiba , PR , Brazil .
Einstein (Sao Paulo). 2023 Nov 17;21:eRC0319. doi: 10.31744/einstein_journal/2023RC0319. eCollection 2023.
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.
全球每年报告的乳腺癌病例总数为 167 万例。其中，5%-10%是由遗传突变引起的。表型模拟是一种罕见的现象，文献中仅报道了少数几例。在表型模拟中，由于环境因素而不是家族突变，出现与遗传起源相同的表型。我们描述了一例 44 岁的三阴性乳腺癌患者的表型模拟病例。母亲和姐姐 BRCA2 中的 c.1813delA，p.Ile605TyrfsTer9 为杂合子。患者接受了 BRCA1 和 BRCA2 的基因检测和外显子组测序。未检测到家族或其他癌症变异。最被接受的表型模拟理论是，没有遗传变异但携带这些突变的患者由于环境因素发生细胞变化，增加了乳腺癌的风险。因此，在乳腺癌患者中检测表型模拟在临床实践中很重要。
