Associated Papers
Suppressor tRNAs as personalized therapy for nonsense mutation-associated pathologies.
Ignatova Z et al.
Pharmacology & Therapeutics, 2025
Mutational landscape of triple-negative breast cancer in African American women.
Yao S et al.
Nature Genetics, 2025
An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations.
Specht C et al.
Nucleic Acids Research, 2025
Efficient suppression of premature termination codons with alanine by engineered chimeric pyrrolysine tRNAs.
Awawdeh A et al.
Nucleic Acids Research, 2024
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.
Rezoug Z et al.
Jama Network Open, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.
Breen KE et al.
The Journal of Urology, 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
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
Oliverio A et al.
Frontiers in Genetics, 2022
Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.
Abreu RBV et al.
Frontiers in Pharmacology, 2022
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
Lovejoy LA et al.
Familial Cancer, 2021
Association between BRCA mutations and endometrial carcinoma: a systematic review with meta-analysis.
Lu G et al.
Archives of Gynecology and Obstetrics, 2021
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS et al.
Genome Medicine, 2019
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 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
Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
Barrington DA et al.
Gynecologic Oncology, 2018
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Zuntini R et al.
Frontiers in Genetics, 2018
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
Jara L et al.
Biological Research, 2017
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
Rummel SK et al.
Breast Cancer Research and Treatment, 2017
Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report.
de Jonge MM et al.
European Journal of Cancer (oxford, England : 1990), 2017
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.
Pal T et al.
Cancer, 2015
Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
Dodova RI et al.
Bmc Cancer, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
Pennington KP et al.
Cancer, 2013
Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.
Rummel S et al.
Breast Cancer Research and Treatment, 2013
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Colombo M et al.
Plos One, 2013
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.
Lara K et al.
Biological Research, 2012
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton DF et al.
American Journal of Human Genetics, 2007
Mutation screening using fluorescence multiplex denaturing gradient gel electrophoresis (FMD): detecting mutations in the BRCA1 gene.
Zhang S et al.
Nature Protocols, 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
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
Yang Y et al.
Human Molecular Genetics, 2003
BRCA mutations in Italian breast/ovarian cancer families.
Nedelcu R et al.
European Journal of Human Genetics : Ejhg, 2002