Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFβ signaling.
Tuppurainen H et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 2023
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Schwartz M et al.
Clinical Genetics, 2023
PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
Gonzalez A et al.
Breast Cancer Research and Treatment, 2022
Homologous Recombination Repair Gene Mutation Characterization by Liquid Biopsy: A Phase II Trial of Olaparib and Abiraterone in Metastatic Castrate-Resistant Prostate Cancer.
Carr TH et al.
Cancers, 2021
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
Kwong A et al.
Cancers, 2021
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.
Janssen B et al.
Journal of Human Genetics, 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
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Boonen RACM et al.
Nature Communications, 2019
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A et al.
Npj Breast Cancer, 2019
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
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.
Mantere T et al.
Scientific Reports, 2017
Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif.
Pauty J et al.
Nucleic Acids Research, 2017
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 2017
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Southey MC et al.
Journal of Medical Genetics, 2016
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
Catucci I et al.
Breast Cancer Research and Treatment, 2016
PALB2: research reaching to clinical outcomes for women with breast cancer.
Southey MC et al.
Hereditary Cancer in Clinical Practice, 2016
Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.
Pauty J et al.
The Biochemical Journal, 2014
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
Tischkowitz M et al.
Human Mutation, 2012