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
Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.
van 't Erve I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.
Lee SE et al.
International Journal of Molecular Sciences, 2021
Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.
Russell-Goldman E et al.
The American Journal of Dermatopathology, 2021
Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.
Zhang S et al.
Frontiers in Oncology, 2021
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Neuhofer CM et al.
Molecular Syndromology, 2020
Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.
Hou H et al.
Oncotarget, 2017
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Ashktorab H et al.
Oncotarget, 2017
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Out AA et al.
Familial Cancer, 2015
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.
Fostira F et al.
Familial Cancer, 2010
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.
Fostira F et al.
Bmc Cancer, 2010
Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.
Sulová M et al.
European Journal of Cancer (oxford, England : 1990), 2007
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
Aceto G et al.
Human Mutation, 2005
Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.
Al-Tassan N et al.
Human Genetics, 2004
[Familial cancer and oncogenic factors].
Ohmori M et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 1996