Genetic modifiers of cancer risk in Lynch syndrome: a review.
Genetic modifiers of cancer risk in Lynch syndrome: a review.
复制标题
DOI：
10.1007/s10689-013-9614-2
复制
发表时间：
2013-06
期刊：
影响因子：
2.2
通讯作者：
Scott, Rodney J.
中科院分区：
文献类型：
--
作者：
Talseth-Palmer, Bente A.;Wijnen, Juul T.;Grice, Desma M.;Scott, Rodney J.
1913年，奥尔德雷德·斯科特·沃辛发表了一份关于癌症家族史的报告，并由亨利·T·林奇进行了扩展，该报告展示了在林奇综合征患者中观察到的最持久的特征之一。在一个家庭中，对发生在不同年龄的各种恶性肿瘤的识别表明，在常染色体显性遗传的遗传条件下，遗传变异对疾病表达的作用。随着林奇综合征的遗传基础的确定以及随后收集的家庭和他们的医疗记录，已经有可能确定影响这种癌症易感性疾病发病年龄的微妙的遗传效应。关于影响疾病表达的遗传修饰因素的知识有可能被用于个性化预防性筛查措施，以最大限度地提高家庭成员及其照顾者的利益。
The report by Aldred Scott Warthin in 1913 of a cancer family history and expanded on by Henry T. Lynch demonstrated one of the most enduring traits observed in patients with Lynch syndrome. The recognition of a variety of malignancies occurring at differing ages within a single family suggested the role of genetic variance on disease expression in an autosomal dominantly inherited genetic condition. With the identification of the genetic basis of Lynch syndrome and the subsequent collection of families and their medical records it has become possible to identify subtle genetic effects that influence the age at which disease onset occurs in this cancer predisposition. Knowledge about genetic modifiers influencing disease expression has the potential to be used to personalise prophylactic screening measures to maximise the benefits for family members and their carers.
登录
查看更多内容
影响因子：
30.8
作者：
Dunlop MG;Dobbins SE;Farrington SM;Jones AM;Palles C;Whiffin N;Tenesa A;Spain S;Broderick P;Ooi LY;Domingo E;Smillie C;Henrion M;Frampton M;Martin L;Grimes G;Gorman M;Semple C;Ma YP;Barclay E;Prendergast J;Cazier JB;Olver B;Penegar S;Lubbe S;Chander I;Carvajal-Carmona LG;Ballereau S;Lloyd A;Vijayakrishnan J;Zgaga L;Rudan I;Theodoratou E;Colorectal Tumour Gene Identification (CORGI) Consortium;Starr JM;Deary I;Kirac I;Kovacević D;Aaltonen LA;Renkonen-Sinisalo L;Mecklin JP;Matsuda K;Nakamura Y;Okada Y;Gallinger S;Duggan DJ;Conti D;Newcomb P;Hopper J;Jenkins MA;Schumacher F;Casey G;Easton D;Shah M;Pharoah P;Lindblom A;Liu T;Swedish Low-Risk Colorectal Cancer Study Group;Smith CG;West H;Cheadle JP;COIN Collaborative Group;Midgley R;Kerr DJ;Campbell H;Tomlinson IP;Houlston RS
通讯作者：
Houlston RS
影响因子：
--
作者：
Cortezzi, SS;Provazzi, PJ;Rahal, P
通讯作者：
Rahal, P
影响因子：
4.7
作者：
Esteller, M;Garcia, A;Reventos, J
通讯作者：
Reventos, J
影响因子：
64.5
作者：
Bond, GL;Hu, WW;Levine, AJ
通讯作者：
Levine, AJ
影响因子：
4.6
作者：
Chen, Jinyun;Sen, Subrata;Frazier, Marsha L.
通讯作者：
Frazier, Marsha L.