Associated Papers
Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.
Cammarota F et al.
Biomedicines, 2026
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
41158875 (PubMed )
Supplement: DataSheet1.xlsx › D
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Leclerc J et al.
Genes, Chromosomes & Cancer, 2023
36502525 (PubMed )
Supplement: GCC-62-210-s001.xlsx › AXIN2_variants
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Chan JM et al.
Familial Cancer, 2022
NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.
Wang H et al.
Cancer Medicine, 2022
35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
AXIN2 germline mutations are rare in familial melanoma.
Pedace L et al.
Genes, Chromosomes & Cancer, 2011
Select a paper to view details