Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
Doctoral School of Molecular Cell and Immune Biology, University of Debrecen, 4032 Debrecen, Hungary.
Int J Mol Sci. 2023 Oct 18;24(20):15334. doi: 10.3390/ijms242015334.
Hereditary breast cancer is most commonly attributed to germline and gene variants. The vast majority of and mutation carriers are single heterozygotes, and double heterozygosity (DH) is a very rare finding. Here, we describe the case of a / double heterozygous female proband diagnosed with breast cancer. Genetic testing for hereditary breast and ovarian cancer revealed two pathogenic variants in the (c.5095C>T, p.(Arg1699Trp)) and in genes (c.658_659delGT, p.(Val220Ilefs*4)) in heterozygous form. None of the variants were founder Jewish mutations; to our knowledge, these rare deleterious variants have not been previously described in DH patients in the literature. The patient had triple-negative unilateral breast cancer at the age of 36 and 44 years. Based on family studies, the variant was maternally inherited.
遗传性乳腺癌最常见于种系和基因变异。绝大多数和突变携带者是单杂合子，而双杂合性（DH）是一种非常罕见的发现。在这里，我们描述了一例/双杂合女性先证者被诊断为乳腺癌。遗传性乳腺癌和卵巢癌的基因检测显示两个致病性变体在（c.5095C>T，p.（Arg1699Trp））和（c.658_659delGT，p.（Val220Ilefs*4））在杂合形式。这些变体都不是犹太裔创始人突变；据我们所知，这些罕见的有害变体以前在文献中的 DH 患者中没有被描述过。该患者在 36 岁和 44 岁时患有三阴性单侧乳腺癌。基于家族研究，该变体是母系遗传的。
