Goidescu Iulian Gabriel, Nemeti Georgiana, Surcel Mihai, Caracostea Gabriela, Florian Andreea Roxana, Cruciat Gheorghe, Staicu Adelina, Muresan Daniel, Goidescu Cerasela, Pintican Roxana, Eniu Dan Tudor
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.
Cancers (Basel). 2023 Mar 22;15(6):1895. doi: 10.3390/cancers15061895.
(1) Background: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing (NGS) is becoming a standard in medical care. There are insufficient genetic studies reported on breast cancer (BC) patients from Romania and most of them are focused only on BRCA 1/2 genes (Breast cancer 1/2). (2) Methods: NGS was performed in 255 consecutive cases of BC referred for management in our clinic between 2015-2019. (3) Results: From the 171 mutations identified, 85 were in the high-penetrance BC susceptibility genes category, 72 were pathogenic genes, and 13 genes were in the (variants of uncertain significance) VUS genes category. Almost half of the mutations were in the BRCA 1 gene. The most frequent BRCA1 variant was c.3607C>T (14 cases), followed by c.5266dupC (11 cases). Regarding BRCA-2 mutations we identified c.9371A>T (nine cases), followed by c.8755-1G>A in three cases, and we diagnosed VUS mutations in three cases. We also identified six pathogenic variants in the PALB2 gene and two pathogenic variants in (tumor protein P 53) TP53. (4) Conclusions: The majority of pathogenic mutations in the Romanian population with BC were in the BRCA 1/ 2 genes, followed by PALB2 (partner and localizer of BRCA2) and TP53, while in the CDH1 (cadherin 1) and STK11 (Serine/Threonine-Protein Kinase) genes we only identified VUS mutations.
(1) 背景：利用下一代测序（NGS）对遗传性乳腺癌和卵巢癌（HBOC）进行多基因检测正成为医疗护理的标准。罗马尼亚乳腺癌（BC）患者的基因研究报告不足，且大多数研究仅聚焦于BRCA 1/2基因（乳腺癌1/2）。(2) 方法：对2015年至2019年间转诊至我们诊所进行治疗的255例连续性BC病例进行了NGS检测。(3) 结果：在鉴定出的171个突变中，85个属于高穿透性BC易感基因类别，72个是致病基因，13个基因属于意义未明变异（VUS）基因类别。几乎一半的突变位于BRCA 1基因。最常见的BRCA1变异是c.3607C>T（14例），其次是c.5266dupC（11例）。关于BRCA-2突变，我们鉴定出c.9371A>T（9例），其次是c.8755-1G>A（3例），并诊断出3例VUS突变。我们还在PALB2基因中鉴定出6个致病变异，在（肿瘤蛋白P 53）TP53基因中鉴定出2个致病变异。(4) 结论：罗马尼亚BC人群中的大多数致病突变位于BRCA 1/2基因，其次是PALB2（BRCA2的伙伴和定位蛋白）和TP53，而在CDH1（钙黏蛋白1）和STK11（丝氨酸/苏氨酸蛋白激酶）基因中，我们仅鉴定出VUS突变。
