Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.

IF 2.3 4区 医学 Q3 ONCOLOGY
Pathology & Oncology Research Pub Date : 2024-08-01 eCollection Date: 2024-01-01 DOI:10.3389/pore.2024.1611813
László Baráti, Anita Maász, Alexandra Mikó, Éva Bércesi, Sultan Al Kalbani, Judit Bene, Sebestyén Kovács, László Mangel, Kinga Hadzsiev
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引用次数: 0

Abstract

Hereditary breast and ovarian cancer is a well-known genetic condition, inherited mainly in an autosomal dominant way, which elevates the risk of developing malignancies at a young age in heterozygous carriers. Advances in new generation sequencing have enabled medical professionals to determine whether a patient is harbouring mutations in moderate- or high penetrance susceptibility genes. We conducted a retrospective analysis among 275 patients who underwent genetic counselling and multigene panel testing for hereditary breast and ovarian cancer syndrome in our department. From these patients 74.5% (205/275) were affected by some type of malignancy, while the remaining 25.5% (70/275) had a positive family history of different cancers, suggesting a genetic predisposition. These tests confirmed a genetic variant in 29.8% and 28.6% of these patient groups respectively. The results also mirrored our general knowledge concerning the genetic background of hereditary breast and ovarian cancer, as variants in either one of the BRCA1 and BRCA2 genes proved to be the most common cause among our patients with 41.5%. Our test also detected a novel mutation in the CDH1 gene and three patients with double heterozygosity in two different susceptibility genes. This study demonstrates the relevance of genetic counselling and non-BRCA gene sequencing among cancer patients and patients who fulfil the criteria for genetic testing, while also providing important details about the genetic profile of Hungarian patients.

南外兴安岭地区遗传性乳腺癌和卵巢癌患者的分子遗传学调查:利用下一代方法拓宽突变谱并寻找新的致病变体。
遗传性乳腺癌和卵巢癌是一种众所周知的遗传病,主要以常染色体显性遗传的方式遗传,会增加杂合子携带者在年轻时罹患恶性肿瘤的风险。新一代测序技术的进步使医务人员能够确定患者是否携带中度或高度渗透性易感基因的突变。我们对本部门接受遗传咨询和遗传性乳腺癌和卵巢癌综合征多基因面板检测的 275 名患者进行了回顾性分析。在这些患者中,74.5%(205/275)患有某种恶性肿瘤,其余 25.5%(70/275)有不同癌症的阳性家族史,表明存在遗传易感性。这些检测分别在 29.8% 和 28.6% 的患者群体中证实了基因变异。这些结果也反映了我们对遗传性乳腺癌和卵巢癌遗传背景的普遍认识,因为 BRCA1 和 BRCA2 基因中的一个变异被证明是患者中最常见的病因,占 41.5%。我们的检测还发现了 CDH1 基因中的一种新型变异,以及三名患者在两种不同的易感基因中存在双杂合子。这项研究表明,在癌症患者和符合基因检测标准的患者中进行基因咨询和非 BRCA 基因测序是有意义的,同时也提供了有关匈牙利患者基因概况的重要细节。
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来源期刊
CiteScore
6.30
自引率
0.00%
发文量
134
审稿时长
4-8 weeks
期刊介绍: Pathology & Oncology Research (POR) is an interdisciplinary Journal at the interface of pathology and oncology including the preclinical and translational research, diagnostics and therapy. Furthermore, POR is an international forum for the rapid communication of reviews, original research, critical and topical reports with excellence and novelty. Published quarterly, POR is dedicated to keeping scientists informed of developments on the selected biomedical fields bridging the gap between basic research and clinical medicine. It is a special aim for POR to promote pathological and oncological publishing activity of colleagues in the Central and East European region. The journal will be of interest to pathologists, and a broad range of experimental and clinical oncologists, and related experts. POR is supported by an acknowledged international advisory board and the Arányi Fundation for modern pathology.
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