Associated Papers
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
Bonamici L et al.
Human Mutation, 2026
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
Mutational and low-coverage whole genome sequencing identifies actionable DNA repair alterations in prostate cancer plasma DNA.
Virga A et al.
Scientific Reports, 2025
Germline Genetic Variants in Cancer Predisposition Genes in Patients From Latin America and the Caribbean.
Wegman-Ostrosky T et al.
Jco Global Oncology, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 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
Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.
Osler TS et al.
Cancer Medicine, 2025
Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population.
Aguilar D et al.
Breast Cancer Research : Bcr, 2025
Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
Aguilar D et al.
Jco Global Oncology, 2025
PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.
Tibiletti MG et al.
Tumori, 2024
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.
Park JE et al.
Cancers, 2024
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.
Rezoug Z et al.
Jama Network Open, 2024
Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.
Li J et al.
Journal of Cancer Research and Clinical Oncology, 2024
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
Anthracycline-related cardiotoxicity in patients with breast cancer harboring mutational signature of homologous recombination deficiency (HRD).
Incorvaia L et al.
Esmo Open, 2024
Germline Mutations in 32 Cancer Susceptibility Genes by Next-Generation Sequencing among Breast Cancer Patients.
Yang Y et al.
Oncology, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo 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
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 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
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 2022
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
Yin L et al.
Jama Network Open, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
Yadav S et al.
Journal of the National Cancer Institute, 2021
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
Zelli V et al.
Cancers, 2021
Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.
Rapposelli IG et al.
Bmc Cancer, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
Zhou J et al.
Cancer, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
Wu Y et al.
Breast Cancer Research and Treatment, 2020
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
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
Kaneyasu T et al.
Npj Breast Cancer, 2020
Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.
Hu ZY et al.
Frontiers in Genetics, 2020
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Weitzel JN et al.
Cancer, 2019
PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk.
Vagena A et al.
Journal of Human Genetics, 2019
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY et al.
International Journal of Cancer, 2019
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
MacFarland SP et al.
Jco Precision Oncology, 2019
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL et al.
Bmc Cancer, 2018