Associated Papers
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Boonen RACM et al.
Nature Communications, 2026
Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair.
Gomes TT et al.
The Journal of Biological Chemistry, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Mutational landscape of triple-negative breast cancer in African American women.
Yao S et al.
Nature Genetics, 2025
Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.
Yao J et al.
Frontiers in Immunology, 2025
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 2023
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
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
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
Fierheller CT et al.
Cancers, 2021
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Velázquez C et al.
Cancers, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
Defined lifestyle and germline factors predispose Asian populations to gastric cancer.
Suzuki A et al.
Science Advances, 2020
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
Functional characterization of 84 PALB2 variants of uncertain significance.
Wiltshire T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S et al.
Bmc Medical Genomics, 2020
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
Boonen RACM et al.
Frontiers in Molecular Biosciences, 2020
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E et al.
Scientific Reports, 2019
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Boonen RACM et al.
Nature Communications, 2019
A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
Rodrigue A et al.
Nucleic Acids Research, 2019
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Casula M et al.
Bmc Cancer, 2019
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
Schubert S et al.
International Journal of Cancer, 2019
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.
Velázquez C et al.
Breast (edinburgh, Scotland), 2019
Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility.
Ciceri S et al.
Oncotarget, 2018
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
Myszka A et al.
Familial Cancer, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
Decker B et al.
Journal of Medical Genetics, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.
Kluska A et al.
Bmc Medical Genomics, 2017
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Mucaki EJ et al.
Bmc Medical Genomics, 2016