Associated Papers
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Llinares-Burguet I et al.
The Journal of Pathology, 2026
Potential role of Fanconi anemia pathway in the pathogenesis of endometrial cancer (Review).
Yao M et al.
Molecular Medicine Reports, 2025
Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.
Sidoti D et al.
Cancers, 2024
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A et al.
The Journal of Pathology, 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
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
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.
Viakhireva I et al.
Familial Cancer, 2020
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I et al.
Journal of Medical Genetics, 2019
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Rowley SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Duran-Lozano L et al.
Breast Cancer Research and Treatment, 2019
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A et al.
Npj Breast Cancer, 2019
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S et al.
Journal of Cancer Research and Clinical Oncology, 2018
Lost in translation: returning germline genetic results in genome-scale cancer research.
Johns AL 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
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Thompson ER et al.
Breast Cancer Research : Bcr, 2015
Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.
Pauty J et al.
The Biochemical Journal, 2014