Associated Papers
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing.
Zimmermann H et al.
Genes, 2025
Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L et al.
Journal of the National Cancer Institute, 2024
Understanding genetic variations associated with familial breast cancer.
Pal M et al.
World Journal of Surgical Oncology, 2024
Germline RECQL gene mutations in Chinese patients with breast cancer.
Hu J et al.
Frontiers in Medicine, 2024
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.
Altintas B et al.
Haematologica, 2023
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 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
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.
Çakır AY et al.
Turkish Journal of Medical Sciences, 2022
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
Huang C et al.
Genome Biology, 2021
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2019
Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.
Dougherty BA et al.
Oncotarget, 2017
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
Wojcik P et al.
Hereditary Cancer in Clinical Practice, 2016
Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.
Cybulski C et al.
Clinical Genetics, 2015
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
Wong-Brown MW et al.
Breast Cancer Research and Treatment, 2015
Investigation of FANCA mutations in Greek patients.
Selenti N et al.
Anticancer Research, 2013
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
Kim H et al.
Breast Cancer Research and Treatment, 2012
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N et al.
The Journal of Molecular Diagnostics : Jmd, 2011
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
Cancer variation associated with the position of the mutation in the BRCA2 gene.
Lubinski J et al.
Familial Cancer, 2004
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS et al.
American Journal of Human Genetics, 1999