Associated Papers
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Rapid Evolution of Metastases in Patients with Treated G3 Neuroendocrine Tumors Associated with NEC-Like Transformation and TP53 Mutation.
Kasajima A et al.
Endocrine Pathology, 2024
AcornHRD: an HRD algorithm highly associated with anthracycline-based neoadjuvant chemotherapy in breast cancer in China.
Pan JN et al.
European Journal of Medical Research, 2024
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
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
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 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
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
Lavoro A et al.
International Journal of Oncology, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S et al.
The Journal of International Medical Research, 2022
Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
Yoshida R
Breast Cancer (tokyo, Japan), 2021
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Mesman RLS 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
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 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
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
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
Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.
Petersen AH et al.
European Journal of Human Genetics : Ejhg, 2016
A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.
Pal T et al.
Cancer, 2015
Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.
Tea MK et al.
Maturitas, 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
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
Acedo A et al.
Breast Cancer Research : Bcr, 2012
Earlier age of onset of BRCA mutation-related cancers in subsequent generations.
Litton JK et al.
Cancer, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.
Haffty BG et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2009