Associated Papers
Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.
Chevrier S et al.
Clinical and Translational Medicine, 2025
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients.
Paulo P et al.
Genes, Chromosomes & Cancer, 2023
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 2023
37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › PVs
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
Fewings E et al.
The Lancet. Gastroenterology & Hepatology, 2018
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