Melanoma susceptibility: an update on genetic and epigenetic findings.

International journal of molecular epidemiology and genetics Pub Date : 2021-10-15 eCollection Date: 2021-01-01
Ole Ah Truderung, Judit C Sagi, Agnes F Semsei, Csaba Szalai
{"title":"Melanoma susceptibility: an update on genetic and epigenetic findings.","authors":"Ole Ah Truderung,&nbsp;Judit C Sagi,&nbsp;Agnes F Semsei,&nbsp;Csaba Szalai","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Malignant melanoma is one of the most highly ranked cancers in terms of years of life lost. Hereditary melanoma with its increased familial susceptibility is thought to affect up to 12% of all melanoma patients. In the past, only a few high-penetrance genes associated with familial melanoma, such as <i>CDKN2A</i> and <i>CDK4</i>, have been clinically tested. However, findings now indicate that melanoma is a cancer most likely to develop not only due to high-penetrance variants but also due to polygenic inheritance patterns, leaving no clear division between the hereditary and sporadic development of malignant melanoma. Various pathogenic low-penetrance variants were recently discovered through genome-wide association studies, and are now translated into polygenic risk scores. These can show superior sensitivity rates for the prediction of melanoma susceptibility and related mixed cancer syndromes than risk scores based on phenotypic traits of the patients, with odds ratios of up to 5.7 for patients in risk groups. In addition to describing genetic findings, we also review the first results of epigenetic research showing constitutional methylation changes that alter the susceptibility to cutaneous melanoma and its risk factors.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"12 5","pages":"71-89"},"PeriodicalIF":0.0000,"publicationDate":"2021-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8611230/pdf/ijmeg0012-0071.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International journal of molecular epidemiology and genetics","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Malignant melanoma is one of the most highly ranked cancers in terms of years of life lost. Hereditary melanoma with its increased familial susceptibility is thought to affect up to 12% of all melanoma patients. In the past, only a few high-penetrance genes associated with familial melanoma, such as CDKN2A and CDK4, have been clinically tested. However, findings now indicate that melanoma is a cancer most likely to develop not only due to high-penetrance variants but also due to polygenic inheritance patterns, leaving no clear division between the hereditary and sporadic development of malignant melanoma. Various pathogenic low-penetrance variants were recently discovered through genome-wide association studies, and are now translated into polygenic risk scores. These can show superior sensitivity rates for the prediction of melanoma susceptibility and related mixed cancer syndromes than risk scores based on phenotypic traits of the patients, with odds ratios of up to 5.7 for patients in risk groups. In addition to describing genetic findings, we also review the first results of epigenetic research showing constitutional methylation changes that alter the susceptibility to cutaneous melanoma and its risk factors.

Abstract Image

Abstract Image

Abstract Image

分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
黑色素瘤易感性:遗传学和表观遗传学研究的最新进展。
恶性黑色素瘤是死亡率最高的癌症之一。家族易感性增加的遗传性黑色素瘤被认为影响了高达12%的黑色素瘤患者。在过去,只有少数与家族性黑色素瘤相关的高外显率基因,如CDKN2A和CDK4,已经进行了临床测试。然而,现在的研究结果表明,黑色素瘤是一种最可能发展的癌症,不仅由于高外显率变异,而且由于多基因遗传模式,没有明确区分遗传性和散发性恶性黑色素瘤的发展。最近通过全基因组关联研究发现了各种致病性低外显率变异,并将其转化为多基因风险评分。与基于患者表型特征的风险评分相比,这些指标在预测黑色素瘤易感性和相关混合癌症综合征方面的敏感性更高,风险组患者的优势比高达5.7。除了描述遗传发现外,我们还回顾了表观遗传学研究的第一个结果,表明体质甲基化变化改变了皮肤黑色素瘤的易感性及其危险因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Exploring the effects of homocysteine metabolism in osteoporosis management in Indian adult females. P. falciparum genetic markers associated with drug resistance from patients with treatment failure in the Southern part of Senegal in 2017. Abundance and diversity of methicillin-resistant bacteria from bathroom surfaces at workplaces using CHROMagar media, 16S, and dnaJ gene sequence typing. Analysis of carbapenem-resistant Acinetobacter baumannii carbapenemase gene distribution and biofilm formation. Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1