Goidescu Iulian Gabriel, Rotar Ioana Cristina, Nemeti Georgiana, Staicu Adelina, Surcel Mihai, Cruciat Gheorghe, Mureșan Daniel, Goidescu Cerasela, Eniu Dan
Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy "Iuliu Hatieganu", 400006 Cluj-Napoca, Romania.
Department of Internal Medicine, Medical Clinic I-Internal Medicine, Cardiology and Gastroenterology, University of Medicine and Pharmacy "Iuliu Hatieganu", 400006 Cluj-Napoca, Romania.
Int J Mol Sci. 2025 May 31;26(11):5313. doi: 10.3390/ijms26115313.
Multigene panel testing for hereditary breast and ovarian cancer is becoming a standard in medical care. Recent studies highlight the importance of pathogenic variants in genes with moderate or low penetrance. 255 consecutive breast cancer cases who met the criteria for genetic testing were approached by next-generation sequencing. From 104 pathogenic mutations identified, 21 were in moderate-risk genes, three in low-risk genes and eight in the group with insufficient evidence genes. The most frequent PVs in moderate-risk genes were in the (13 cases), the gene- (six cases), (one case) and -(one case) genes. Among the low-risk genes, we identified only three pathogenic mutations (two in gene-melanocyte-stimulating hormone gene-and one in gene- gene). Reporting on low-risk mutations and those with insufficient evidence regarding breast cancer risk is valuable to enable a more comprehensive view of genetic factors influencing disease development and improve screening protocols, tailor diagnostic strategies, and individualize treatment plans. This approach also enhances our understanding of BC risk in various populations, potentially leading to new insights into genetic contributions to cancer and the refinement of risk models for patient care.
遗传性乳腺癌和卵巢癌的多基因检测正在成为医疗保健的标准。最近的研究强调了中度或低度外显率基因中致病变异的重要性。通过下一代测序对255例符合基因检测标准的连续乳腺癌病例进行了研究。在鉴定出的104个致病突变中，21个位于中度风险基因，3个位于低度风险基因，8个位于证据不足的基因组。中度风险基因中最常见的致病变异位于（13例）、基因-（6例）、（1例）和-（1例）基因。在低度风险基因中，我们仅鉴定出3个致病突变（2个在基因-促黑素细胞激素基因-中，1个在基因-基因中）。报告低度风险突变以及那些关于乳腺癌风险证据不足的突变，对于更全面地了解影响疾病发展的遗传因素、改进筛查方案、定制诊断策略和个性化治疗计划具有重要价值。这种方法还增强了我们对不同人群中乳腺癌风险的理解，可能会带来对癌症遗传贡献的新见解，并改进用于患者护理的风险模型。
