Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS
Germline Mutations in DNA Repair Genes in Patients with Pancreatic Neuroendocrine Neoplasms: Diagnostic and Therapeutic Implications.
Jurecka-Lubieniecka B et al.
Current Oncology (toronto, Ont.), 2025
Germline RECQL gene mutations in Chinese patients with breast cancer.
Hu J et al.
Frontiers in Medicine, 2024
Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.
Goidescu IG et al.
Cancers, 2023
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S18
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
Yao Q et al.
Frontiers in Oncology, 2022
35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
Boonen RACM et al.
Frontiers in Molecular Biosciences, 2020
A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
Rodrigue A et al.
Nucleic Acids Research, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
Wang J et al.
Cancer Medicine, 2019
30982232 (PubMed )
Supplement: CAM4-8-2074-s004.xlsx › Sheet1
The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.
Cao AY et al.
Breast Cancer Research and Treatment, 2009
[Analysis of BRCA1 gene mutations in patients with early-onset breast cancer and their affected relatives in Guangdong province].
Zhou J et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2009
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