研究论文
The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures
Daniel D. Buchanan, Peter Georgeson, Romy Walker, Jihoon E. Joo, Mark Clendenning, Julia Como, Ryan O’Keeffe, Alysha Prisc 等 17 位
The Royal Melbourne Hospital The University of Melbourne Victorian Comprehensive Cancer Centre The University of Queensland
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生物医学Genetic factors in colorectal cancer
RNA Research and Splicing · Wnt/β-catenin signaling in development and cancer
参考文献 13
Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers
被引 293Sarah Briggs, Ian Tomlinson · The Journal of Pathology · 2013
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
被引 157Laura Valle, Eva Hernández‐Illán, Fernando Bellido · Human Molecular Genetics · 2014
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
被引 1,017Claire Palles, Jean‐Baptiste Cazier, Kimberley Howarth · Nature Genetics · 2012
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引用本文 1
Emerging role of DNA polymerase epsilon non-exonuclease domain mutations in colorectal cancer: From sequence variants to clinical implications
被引 1Jia-Ju Xu, Chun-Xiao Ni, Jia-Ju Xu · World Journal of Gastroenterology · 2026
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