Unravelling genetic variants of a swedish family with high risk of prostate cancer.

IF 2 4区医学 Q3 ONCOLOGY

Hereditary Cancer in Clinical Practice Pub Date : 2022-07-23 DOI:10.1186/s13053-022-00234-0

Serena Barilla, Annika Lindblom, Hafdis T Helgadottir

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引用次数: 0

Abstract

Background: Prostate cancer is the most prevalent cancer in men worldwide. It is a polygenic disease with a substantial proportion of heritability. Identification of novel candidate biomarkers is crucial for clinical cancer prevention and the development of therapeutic strategies. Here, we describe the analysis of rare and common genetic variants that can predispose to the development of prostate cancer.

Methods: Whole-genome sequencing was performed on germline DNA of five Swedish siblings which were diagnosed with prostate cancer. The high-risk variants were identified setting the minor allele frequency < 0.01, CADD > 10 and if tested in PRACTICAL, OR > 1.5, while the low-risk variants were identified minor allele frequency > 0.01, CADD > 10 and if tested in PRACTICAL, OR > 1.1.

Results: We identified 38 candidate high-risk gene variants and 332 candidate low-risk gene variants, where 2 and 14 variants were in coding regions, respectively, that were shared by the brothers with prostate cancer.

Conclusions: This study expanded the knowledge of potential risk factor candidates involved in hereditary and familial prostate cancer. Our findings can be beneficial when applying targeted screening in families with a high risk of developing the disease.

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揭秘瑞典前列腺癌高风险家族的基因变异。

背景：前列腺癌是全球男性发病率最高的癌症。它是一种多基因疾病，具有相当大比例的遗传性。鉴定新的候选生物标志物对于临床癌症预防和治疗策略的开发至关重要。在此，我们介绍了对可能导致前列腺癌的罕见和常见基因变异的分析：方法：对确诊为前列腺癌的五个瑞典兄弟姐妹的种系 DNA 进行了全基因组测序。结果：我们发现了 38 个候选高风险基因，这些基因的小等位基因频率为 10，如果在 PRACTICAL 中检测，OR > 1.5；而低风险基因的小等位基因频率 > 0.01，CADD > 10，如果在 PRACTICAL 中检测，OR > 1.1：我们发现了 38 个候选高风险基因变异和 332 个候选低风险基因变异，其中分别有 2 个和 14 个变异位于前列腺癌兄弟共有的编码区：这项研究拓展了人们对遗传性和家族性前列腺癌潜在风险因素候选基因的认识。我们的研究结果将有助于对高危家族进行有针对性的筛查。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

>12 weeks

期刊介绍： Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.