Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

IF 1.2 Q4 GENETICS & HEREDITY
Polyanna C Oliveira, Paula Correa, A. Acosta, J. Freitas, T. Machado-Lopes, T. Bomfim-Palma, Ândrea Ribeiro-Dos-Santos, Sidney Santos, Roberto Nascimento, I. Nascimento, K. Abé-Sandes
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Abstract

Abstract Introduction  Cancer is a multifactorial disease dependent on the influence of genetic and environmental factors. About 10% of cancers are associated with germline mutations, which predispose to a higher risk of developing cancer. Currently, the use of panels that identify susceptibility and/or association genes cancer has been increasingly used, both in clinical practice and in scientific research. Objective  To investigate genetic mutations in patients with a profile for hereditary cancer in individuals from a region of northeast Brazil, where there is a high frequency of endogenous and consanguineous marriages. Methods  A set of 17 genes ( BRCA1 , BRCA2 , APC , TP53 , PTEN , RET , VHL , RB1 , CDKN2 , CDH1 , CHEK2 , MLH1 , MSH2 , MSH6 , MUTYH , XPA , and XPC ) associated with cancer and hereditary syndromes were analyzed. Fifteen patients with a hereditary cancer profile were evaluated. Results  The pathogenic variant found was c.1187G > A (p.Gly396Asp), rs36053993 in the MUTYH gene in a male patient diagnosed with melanoma at the age of 43 years and a family history for this tumor. This gene encodes an important enzyme related to DNA repair and has been associated with other types of cancer, this is the first report of an association with melanoma, the biological plausibility of this association is given once the MUTYH protein is expressed in the skin tissue and is responsible for repairing damage caused, for example, by sun exposure. Conclusion  The results of this study suggest that this mutation may be important for the hereditary predisposition to melanoma, but a broader investigation of this mutation is needed.
在巴西一个内婚率较高的地区筛查遗传性癌症易感基因突变
癌症是一种受遗传和环境因素影响的多因素疾病。大约10%的癌症与生殖系突变有关,这使患癌症的风险更高。目前,在临床实践和科学研究中,越来越多地使用鉴定癌症易感性和/或相关基因的小组。目的调查巴西东北部地区内源性和近亲通婚频率高的地区遗传癌症患者的基因突变情况。方法分析与肿瘤及遗传综合征相关的17个基因(BRCA1、BRCA2、APC、TP53、PTEN、RET、VHL、RB1、CDKN2、CDH1、CHEK2、MLH1、MSH2、MSH6、MUTYH、XPA、XPC)。对15例具有遗传性癌症特征的患者进行了评估。结果1例43岁男性黑色素瘤家族史患者的致病变异为c.1187G > A (p.Gly396Asp)、rs36053993。该基因编码一种与DNA修复相关的重要酶并与其他类型的癌症有关,这是与黑色素瘤有关的第一份报告,这种联系的生物学合理性一旦MUTYH蛋白在皮肤组织中表达并负责修复损伤,例如,由阳光照射引起的损伤。结论本研究的结果表明,这种突变可能对黑色素瘤的遗传易感性很重要,但需要对这种突变进行更广泛的研究。
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来源期刊
Global Medical Genetics
Global Medical Genetics GENETICS & HEREDITY-
自引率
11.80%
发文量
30
审稿时长
14 weeks
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