作者
Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder, Virginia Piñol, José Luís Soto, Alfonso Valencia, Ignacio Blanco, Miguel Urioste, Joan Brunet, Conxi Lázaro, Gabriel Capellá, Xose S Puente, Laura Valle
发表日期
2016/4
来源
Genetics in Medicine
卷号
18
期号
4
页码范围
325-332
出版商
Nature Publishing Group
简介
Purpose:
Germ-line mutations in the exonuclease domains of POLE and POLD1 have been recently associated with polyposis and colorectal cancer (CRC) predisposition. Here, we aimed to gain a better understanding of the phenotypic characteristics of this syndrome to establish specific criteria for POLE and POLD1 mutation screening and to help define the clinical management of mutation carriers.
Methods:
The exonuclease domains of POLE and POLD1 were studied in 529 kindred, 441 with familial nonpolyposis CRC and 88 with polyposis, by using pooled DNA amplification and massively parallel sequencing.
Results:
Seven novel or rare genetic variants were identified. In addition to the POLE p. L424V recurrent mutation in a patient with polyposis, CRC and oligodendroglioma, six novel or rare POLD1 variants (four of them, p. D316H, p. D316G, p. R409W, and p. L474P, with strong evidence for pathogenicity …
学术搜索中的文章
F Bellido, M Pineda, G Aiza, R Valdés-Mas, M Navarro… - Genetics in Medicine, 2016