Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population.

IF 2 4区医学 Q3 ONCOLOGY

Hereditary Cancer in Clinical Practice Pub Date : 2022-01-04 DOI:10.1186/s13053-021-00208-8

Elżbieta Złowocka-Perłowska, Aleksandra Tołoczko-Grabarek, Jan Lubiński

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引用次数: 0

Abstract

Introduction: The role of HOXB13 in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of HOXB13 p.G84E mutation in bladder and kidney cancer patients from Poland.

Materials and methods: 1418 patients with bladder cancer and 813 cases with kidney cancer and 4497 controls were genotyped for HOXB13 p.G84E.

Results: p.G84E mutation of HOXB13 gene was detected in three of 1418 (0.2%) bladder cancer cases and in six of 4497 controls (odds ratio [OR], 1.6; 95% CI 0.39-6.36; p = 0.8). Among 813 kidney cancer cases HOXB13 mutations was reported in three patients (0,4%) (odds ratio [OR], (OR = 2,8; 95% CI 0.69-11.11; p = 0.3). In cases with mutations in the HOXB13 gene, the family history of cancer was negative.

Conclusion: HOXB13 mutation was not associated with bladder or kidney cancer. Mutation p.G84E in HOXB13 seem not to play a role in bladder and kidney cancer development in Polish patients.

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在波兰人群中，种系HOXB13突变p.G84E不会增加膀胱癌或肾癌的风险。

HOXB13在膀胱和肾脏肿瘤发生中的作用尚不清楚。我们的目的是确定HOXB13 p.G84E突变在波兰膀胱癌和肾癌患者中的患病率。材料与方法:对1418例膀胱癌患者、813例肾癌患者及4497例对照患者进行HOXB13 p.G84E基因分型。结果:1418例膀胱癌患者中有3例(0.2%)检测到p.G84E HOXB13基因突变，4497例对照中有6例(优势比[OR]， 1.6;95% ci 0.39-6.36;p = 0.8)。在813例肾癌病例中，有3例患者报告了HOXB13突变(0.4%)(优势比[OR]， (OR = 2,8;95% ci 0.69-11.11;p = 0.3)。在HOXB13基因突变的病例中，癌症家族史为阴性。结论:HOXB13突变与膀胱癌、肾癌无关。HOXB13中的p.G84E突变似乎在波兰患者的膀胱癌和肾癌发展中不起作用。

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.