Associated Papers
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population.
Yu S et al.
Cancer Pathogenesis and Therapy, 2025
Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.
Chevrier S et al.
Clinical and Translational Medicine, 2025
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.
Pitiyarachchi O et al.
Translational Oncology, 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
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.
Zhu L et al.
Breast Cancer (tokyo, Japan), 2022
Assessing the Variations in Breast/Ovarian Cancer Risk for Chinese BRCA1/2 Carriers.
Li A et al.
Journal of Oncology, 2022
Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.
Ji G et al.
Journal of Cancer Research and Clinical Oncology, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.
Lynce F et al.
Journal of Genetic Counseling, 2021
New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.
Gervas P et al.
Experimental Oncology, 2021
Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.
Turashvili G et al.
Cancers, 2020
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.
Zhang X et al.
Reproductive Biology and Endocrinology : Rb&e, 2020
Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.
Sinha S et al.
Computational and Structural Biotechnology Journal, 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
Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.
Cao WM et al.
Bmc Cancer, 2019
Challenges in Managing Patients with Hereditary Cancer at Gynecological Services.
Ueda M et al.
Obstetrics and Gynecology International, 2019
Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in BRCA1-Mutant Cholangiocarcinoma Harboring a Novel YWHAZ-BRAF Fusion.
Lim HC et al.
The Oncologist, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Copson ER et al.
The Lancet. Oncology, 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
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.
Shi T et al.
International Journal of Cancer, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
Kim YC et al.
Oncotarget, 2016
Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.
Cao WM et al.
Bmc Cancer, 2016
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Quiles F et al.
Breast Cancer Research and Treatment, 2016
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
de Juan I et al.
Familial Cancer, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
de Juan Jiménez I et al.
Familial Cancer, 2013
BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer.
Cao W et al.
Anatomical Record (hoboken, N.j. : 2007), 2013