Associated Papers
Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with CHEK2 Germline Mutations.
Gąsior-Perczak D et al.
Cancers, 2024
Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.
Wang Y et al.
Bmc Medicine, 2024
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.
Chavarri-Guerra Y et al.
Salud Publica De Mexico, 2022
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
Chandrasekaran D et al.
Cancers, 2021
Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma.
Gąsior-Perczak D et al.
Cancers, 2021
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Santonocito C et al.
Cancers, 2020
Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.
Pasculli B et al.
Frontiers in Oncology, 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
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.
Geredeli C et al.
International Journal of Breast Cancer, 2019
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
SYK expression level distinguishes control from BRCA1-mutated lymphocytes.
Zahavi T et al.
Cancer Management and Research, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
Genetics of breast cancer in African populations: a literature review.
Abbad A et al.
Global Health, Epidemiology and Genomics, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.
Wu H et al.
Gene Therapy, 2017
The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.
Lener MR et al.
Cancer Research and Treatment, 2017
Functional characterization of BRCA1 gene variants by mini-gene splicing assay.
Steffensen AY et al.
European Journal of Human Genetics : Ejhg, 2014
BRCA1 germline mutations may be associated with reduced ovarian reserve.
Wang ET et al.
Fertility and Sterility, 2014
A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.
Bąk A et al.
Hereditary Cancer in Clinical Practice, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
An inherited NBN mutation is associated with poor prognosis prostate cancer.
Cybulski C et al.
British Journal of Cancer, 2013
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
Fackenthal JD et al.
International Journal of Cancer, 2012
Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.
Myszka A et al.
Journal of Applied Genetics, 2011
CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.
Mohelnikova-Duchonova B et al.
Cancer Epidemiology, 2010
CHEK2 mutations and HNPCC-related colorectal cancer.
Suchy J et al.
International Journal of Cancer, 2010
The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.
Kleibl Z et al.
European Journal of Cancer (oxford, England : 1990), 2009
Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin.
Cybulski C
Hereditary Cancer in Clinical Practice, 2007
A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland.
Cybulski C et al.
Breast Cancer Research and Treatment, 2007