Solano Angela R, Mele Pablo G, Jalil Fernanda S, Liria Natalia C, Podesta Ernesto J, Gutiérrez Leandro G
Genotipificación, Departamento de Análisis Clínicos, Centro de Estudios Médicos e Investigaciones Clínicas, Ciudad Autónoma de Buenos Aires C1431FWO, Argentina.
Instituto de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Buenos Aires/Consejo Nacional de Investigaciones, Científicas y Técnicas, Ciudad Autónoma de Buenos Aires C1121ABG, Argentina.
Cancers (Basel). 2021 May 31;13(11):2711. doi: 10.3390/cancers13112711.
Gene/s sequencing in hereditary breast/ovary cancer (HBOC) in routine diagnosis is challenged by the analysis of panels. We aim to report a retrospective analysis of and non- gene sequencing in patients with breast/ovary cancer (BOC), including triple-negative breast cancer (TNBC), in our population. In total 2155 BOC patients (1900 analyzed in and 255 by multigenic panels) gave 372 (17.2.6%) and 107 (24.1%) likely pathogenic/pathogenic variants (LPVs/PVs), including and non- genes, for the total and TNBC patients, respectively. When BOC was present in the same proband, a 51.3% rate was found for LPVs/PVs in . Most of the LPVs/PVs in the panels were in ; non- gene LPVs/PVs were in , and . TNBC is associated with at a higher rate than the rest of the breast cancer types. The more prevalent PVs in genes (mostly in ) do not rule out the importance to panels of genes, although they are certainly far from shedding light on the gap of the 85% predicted linkage association of BOC with and are still not elucidated.
遗传性乳腺癌/卵巢癌(HBOC)常规诊断中的基因测序面临着基因组合分析的挑战。我们旨在报告对我们人群中乳腺癌/卵巢癌(BOC)患者,包括三阴性乳腺癌(TNBC)患者进行的[未提及具体基因]和非[未提及具体基因]基因测序的回顾性分析。总共2155例BOC患者(1900例通过[未提及具体方式]分析,255例通过多基因组合分析)分别在所有患者和TNBC患者中检测到372个(17.2%)和107个(24.1%)可能致病/致病的变异(LPV/PV),包括[未提及具体基因]和非[未提及具体基因]基因。当同一先证者存在BOC时,[未提及具体基因]中LPV/PV的发生率为51.3%。基因组合中的大多数LPV/PV存在于[未提及具体基因];非[未提及具体基因]基因的LPV/PV存在于[未提及具体基因]、[未提及具体基因]和[未提及具体基因]。TNBC与[未提及具体基因]的关联率高于其他类型的乳腺癌。[未提及具体基因]基因中更常见的PV(大多在[未提及具体基因]中)并不排除[未提及具体基因]基因组合的重要性,尽管它们肯定远未阐明BOC与[未提及具体基因]预测的85%连锁关联的差距,且仍未得到解释。