Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 2023
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
Alenezi WM et al.
Frontiers in Oncology, 2023
Homologous Recombination Repair Mechanisms in Serous Endometrial Cancer.
Jönsson JM et al.
Cancers, 2021
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Velázquez C et al.
Cancers, 2020
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E et al.
Scientific Reports, 2019
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
Rashid MU et al.
Cancer Research and Treatment, 2019
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.
Velázquez C et al.
Breast (edinburgh, Scotland), 2019
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
Myszka A et al.
Familial Cancer, 2018
PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.
Kluska A et al.
Bmc Medical Genomics, 2017
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Mucaki EJ et al.
Bmc Medical Genomics, 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
Assessment of PALB2 as a candidate melanoma susceptibility gene.
Aoude LG et al.
Plos One, 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
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.
Teo ZL et al.
Breast Cancer Research : Bcr, 2013
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.
Blanco A et al.
Plos One, 2013
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
Blanco A et al.
Breast Cancer Research and Treatment, 2012
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
Hellebrand H et al.
Human Mutation, 2011
PALB2 mutations in German and Russian patients with bilateral breast cancer.
Bogdanova N et al.
Breast Cancer Research and Treatment, 2011
Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.
Tischkowitz MD et al.
Gastroenterology, 2009