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
Meta-analysis of exome-wide gene burden analysis of breast cancer susceptibility genes.
Collister JA et al.
Npj Breast Cancer, 2025
PALB2 mutations increase oncogenic properties of breast epithelial cells by enhancing JAM3 and PARVB expression.
Tuppurainen H et al.
Biochemical and Biophysical Research Communications, 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
Hereditary breast cancer beyond BRCA: clinicopathological characteristics and long-term outcomes.
Dejaegher K et al.
Familial Cancer, 2025
Population-based study of recurrent DNA damage response gene variants in breast cancer cases.
Tervasmäki A et al.
Breast Cancer Research and Treatment, 2025
Association between single nucleotide polymorphisms of DNA repair genes (BRCA1, BRCA2, and PALB2) and breast cancer incidence in a subset of Iranian population.
Jahangiri S et al.
Hereditary Cancer in Clinical Practice, 2025
PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients.
Kang MC et al.
Esmo Open, 2025
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 2025
Meta-analysis of breast cancer risk for individuals with PALB2 pathogenic variants.
Ruberu TLM et al.
Genetic Epidemiology, 2024
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.
Park JE et al.
Cancers, 2024
Bayesian meta-analysis of penetrance for cancer risk.
Ruberu TLM et al.
Biometrics, 2024
Meta-Analysis of Breast Cancer Risk for Individuals with PALB2 Pathogenic Variants.
Ruberu TLM et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Barili V et al.
Genes, 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
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
Impact of non-BRCA genes in the indication of risk-reducing surgery in hereditary breast and ovarian cancer syndrome (HBOC).
Fernández Madrigal L et al.
Current Problems in Cancer, 2023
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 2023
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.
Tsyganov MM et al.
Genes, 2023
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 2023
What is the appropriate genetic testing criteria for breast cancer in the Chinese population?-Analysis of genetic and clinical features from a single cancer center database.
Ni M et al.
Cancer Medicine, 2023
Variant-specific Mendelian Risk Prediction Model.
Bae E et al.
Biorxiv : the Preprint Server for Biology, 2023
The impact of coding germline variants on contralateral breast cancer risk and survival.
Morra A et al.
American Journal of Human Genetics, 2023
Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
Nurmi AK et al.
Cancers, 2022
A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families.
Hakkarainen M et al.
Ejhaem, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
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
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Ng PS et al.
Journal of Medical Genetics, 2022
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Emelyanova M et al.
Therapeutic Advances in Medical Oncology, 2022
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
Kwong A et al.
Cancers, 2021
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Tischkowitz M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Ex vivo analysis of DNA repair targeting in extreme rare cutaneous apocrine sweat gland carcinoma.
Mäkelä R et al.
Oncotarget, 2021
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Single-Strand Annealing in Cancer.
Blasiak J
International Journal of Molecular Sciences, 2021