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
Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?
Schubart C et al.
International Journal of Cancer, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF et al.
American Journal of Human Genetics, 2024
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 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
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
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Report of a germline double heterozygote in MSH2 and PALB2.
Agiannitopoulos K et al.
Molecular Genetics & Genomic Medicine, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?
Amaral T et al.
Cancers, 2020
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM et al.
The Lancet. Oncology, 2018
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
Caminsky NG et al.
Human Mutation, 2016
Breast-cancer risk in families with mutations in PALB2.
Antoniou AC et al.
The New England Journal of Medicine, 2014
Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.
Pauty J et al.
The Biochemical Journal, 2014
PALB2 and breast cancer: ready for clinical translation!
Southey MC et al.
The Application of Clinical Genetics, 2013
Novel germline PALB2 truncating mutations in African American breast cancer patients.
Zheng Y et al.
Cancer, 2012
PALB2 mutations in German and Russian patients with bilateral breast cancer.
Bogdanova N et al.
Breast Cancer Research and Treatment, 2011
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
Reid S et al.
Nature Genetics, 2007