Associated Papers
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.
Kleeman SO et al.
Gut, 2020
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Kong SL et al.
Oncotarget, 2017
Tumor genome analysis includes germline genome: are we ready for surprises?
Catenacci DV et al.
International Journal of Cancer, 2015
Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines.
Suraweera N et al.
International Journal of Cancer, 2006
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients.
Liu XR et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
Aretz S et al.
European Journal of Human Genetics : Ejhg, 2004
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).
Michils G et al.
European Journal of Human Genetics : Ejhg, 2002
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
Lamlum H et al.
Nature Medicine, 1999
Alternative genetic pathways in colorectal carcinogenesis.
Olschwang S et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.
Gismondi V et al.
Human Mutation, 1997