Associated Papers
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients.
Assaf N et al.
Cancer Management and Research, 2025
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.
Muhammad N et al.
Hereditary Cancer in Clinical Practice, 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
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
Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
Rweyemamu LP et al.
Cancer Medicine, 2023
Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.
Ebner S et al.
Oncotarget, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
Salmi F et al.
Plos One, 2021
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.
Urbina-Jara LK et al.
Genes, 2019
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
Somatic mutations in early onset luminal breast cancer.
Encinas G et al.
Oncotarget, 2018
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
Torres D et al.
Scientific Reports, 2017
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C et al.
Archives of Gynecology and Obstetrics, 2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
Maistro S et al.
Bmc Cancer, 2016
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
Kim YC et al.
Oncotarget, 2016
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
Jalkh N et al.
Hereditary Cancer in Clinical Practice, 2012
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Whiley PJ et al.
Human Mutation, 2011
Mutations and polymorphic BRCA variants transmission in breast cancer familial members.
Pilato B et al.
Breast Cancer Research and Treatment, 2011
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.
Palomba G et al.
Bmc Cancer, 2009
Molecular and in silico analysis of BRCA1 and BRCA2 variants.
Tommasi S et al.
Mutation Research, 2008
[Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer].
Song CG et al.
Zhonghua Wai Ke Za Zhi [chinese Journal of Surgery], 2006
The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer.
Song CG et al.
Journal of Cancer Research and Clinical Oncology, 2006
[BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China].
Song CG et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
Hadjisavvas A et al.
Cancer Genetics and Cytogenetics, 2004
BRCA1 and BRCA2 mutations in women from Shanghai China.
Suter NM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004
Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.
Kanaan Y et al.
Human Genetics, 2003
BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.
Hadjisavvas A et al.
Human Mutation, 2003
BRCA2 founder mutation in Slovenian breast cancer families.
Krajc M et al.
European Journal of Human Genetics : Ejhg, 2002
BRCA2 mutations in a population-based series of patients with ocular melanoma.
Scott RJ et al.
International Journal of Cancer, 2002
Germline and Somatic mutations in postmenopausal breast cancer patients.
Nagy TR et al.
Clinics (sao Paulo, Brazil), 0
Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients.
Onyia AF et al.
Technology in Cancer Research & Treatment, 0