Associated Papers
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2025
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Pathogenic germ line variants in a prospective multicenter cohort of patients with multiple myeloma.
Wiedmeier-Nutor JE et al.
Blood Neoplasia, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia.
Mesarič VA et al.
Human Genomics, 2024
Germline pathogenic variants in prostate cancer.
Shakroo YM et al.
Pathology, Research and Practice, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing.
Evans DG et al.
Genetics in Medicine Open, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 2023
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
Li N et al.
Journal of Medical Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ et al.
European Urology, 2022
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Espinel W et al.
Cancers, 2022
Extended gene panel testing in lobular breast cancer.
van Veen EM et al.
Familial Cancer, 2022
Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant.
Grosel TW et al.
Familial Cancer, 2022
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
Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials.
Javle M et al.
Jama Oncology, 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
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Walsh T et al.
Npj Breast Cancer, 2021
Targeting mTOR and DNA repair pathways in residual triple negative breast cancer post neoadjuvant chemotherapy.
Anand K et al.
Scientific Reports, 2021
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 2021
Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.
Čerina D et al.
Pathology Oncology Research : Por, 2021
Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
Lovejoy LA et al.
Genes, 2020
Plasma Circulating Tumor DNA and Clonal Hematopoiesis in Metastatic Renal Cell Carcinoma.
Bacon JVW et al.
Clinical Genitourinary Cancer, 2020
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
Rotunno M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
Slavin TP et al.
Journal of Geriatric Oncology, 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 alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Maynard H et al.
Cancer, 2020
An Analysis of Patients with DNA Repair Pathway Mutations Treated with a PARP Inhibitor.
Borazanci E et al.
The Oncologist, 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
Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.
Hu ZY et al.
Frontiers in Genetics, 2020