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
39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data
PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.
Meuser E et al.
Molecular Cancer Research : Mcr, 2024
38546397 (PubMed )
Supplement: mcr-23-0810_supplementary_table_s1_suppst1.xlsx › Sheet1
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.
Mamlouk S et al.
Bmc Biology, 2020
32895052 (PubMed )
Supplement: 12915_2020_844_MOESM4_ESM.xlsx › AC33_public
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations
Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.
Araujo LF et al.
The International Journal of Biological Markers, 2019
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1
APC germline mutations in families with familial adenomatous polyposis.
De Queiroz Rossanese LB et al.
Oncology Reports, 2013
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Mutation spectrum of the APC gene in 83 Korean FAP families.
Kim DW et al.
Human Mutation, 2005
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.
Jones S et al.
Human Molecular Genetics, 2002
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