Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response-Deficient Tumors.
Silverman IM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.
Park JE et al.
Cancers, 2024
Germline Testing Identifies Pathogenic/Likely Pathogenic Variants in Patients with Pancreatic Neuroendocrine Tumors.
Mohindroo C et al.
Cancer Prevention Research (philadelphia, Pa.), 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
Partner and localizer of BRCA2 (PALB2) pathogenic variants and ovarian cancer: A systematic review and meta-analysis.
Narayan P et al.
Gynecologic Oncology, 2023
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 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
Extended gene panel testing in lobular breast cancer.
van Veen EM 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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
Lattimore V et al.
Breast Cancer Research and Treatment, 2021
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
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
Gardner SA et al.
Hereditary Cancer in Clinical Practice, 2018
Outcomes of retesting BRCA negative patients using multigene panels.
Yadav S et al.
Familial Cancer, 2017
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Li J 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
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.
Nguyen-Dumont T et al.
Analytical Biochemistry, 2015
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
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
Nguyen-Dumont T et al.
Bmc Medical Genomics, 2013
Tumour morphology predicts PALB2 germline mutation status.
Teo ZL et al.
British Journal of Cancer, 2013
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.
Teo ZL et al.
Breast Cancer Research : Bcr, 2013
PALB2 and breast cancer: ready for clinical translation!
Southey MC et al.
The Application of Clinical Genetics, 2013
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
Catucci I et al.
Familial Cancer, 2012
Novel germline PALB2 truncating mutations in African American breast cancer patients.
Zheng Y et al.
Cancer, 2012
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
Wong MW et al.
Breast Cancer Research and Treatment, 2011
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
Casadei S et al.
Cancer Research, 2011