Associated Papers
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 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
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.
Khoruddin NA et al.
Scientific Reports, 2021
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.
Lattimore VL et al.
Frontiers in Oncology, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?
Weghofer A et al.
Plos One, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.
Zhang S et al.
Gynecologic Oncology, 2011
Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.
Farooq A et al.
Journal of Oncology, 2011
Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.
Spurdle AB et al.
Human Mutation, 2010
Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers.
Tung N et al.
Breast Cancer Research : Bcr, 2010
Methylation not a frequent "second hit" in tumors with germline BRCA mutations.
Dworkin AM et al.
Familial Cancer, 2009
Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability.
Lovelock PK et al.
Breast Cancer Research and Treatment, 2007
Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.
Rashid MU et al.
International Journal of Cancer, 2006
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.
Risch HA et al.
Journal of the National Cancer Institute, 2006
[Breast and ovarian cancer susceptibility gene product BRCA1].
Ohta T
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2006
Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.
Weber F et al.
American Journal of Human Genetics, 2006
Lymphocytes of BRCA1 and BRCA2 germ-line mutation carriers, with or without breast cancer, are not abnormally sensitive to the chromosome damaging effect of moderate folate deficiency.
Beetstra S et al.
Carcinogenesis, 2006
A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene.
Kuperstein G et al.
Genetic Testing, 2006
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
Tesoriero AA et al.
Human Mutation, 2005
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.
Risch HA et al.
American Journal of Human Genetics, 2001