Associated Papers
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
Reiner AS et al.
Jama Network Open, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Next-generation sequencing uncovers crucial mutated genes and potential therapeutic targets in ovarian cancer patients.
Zhao T et al.
American Journal of Translational Research, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.
Vasudevan HN et al.
Jama Network Open, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
Nepomuceno TC et al.
Scientific Reports, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer.
Russi M et al.
Pharmacology & Therapeutics, 2022
Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.
Abreu RBV et al.
Frontiers in Pharmacology, 2022
Risks and Function of Breast Cancer Susceptibility Alleles.
Torabi Dalivandan S et al.
Cancers, 2021
BRCA1/2 signaling and homologous recombination deficiency in breast and ovarian cancer.
Royfman R et al.
Future Oncology (london, England), 2021
BRCA1-BRCT Mutations Alter the Subcellular Localization of BRCA1 In Vitro.
Drikos I et al.
Anticancer Research, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
El Ansari FZ et al.
Bmc Cancer, 2020
Application of BERT to Enable Gene Classification Based on Clinical Evidence.
Su Y et al.
Biomed Research International, 2020
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
Fernandes VC et al.
The Journal of Biological Chemistry, 2019
Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation.
Golubeva VA et al.
Cancers, 2019
Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.
Sharma-Oates A et al.
Precision Clinical Medicine, 2018
Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.
Schenk D et al.
Plos One, 2017
Yeast cells reveal the misfolding and the cellular mislocalization of the human BRCA1 protein.
Thouvenot P et al.
Journal of Cell Science, 2016
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
Thouvenot P et al.
Plos Genetics, 2016
BRCA1 affects protein phosphatase 6 signalling through its interaction with ANKRD28.
Vincent A et al.
The Biochemical Journal, 2016
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Woods NT et al.
Npj Genomic Medicine, 2016
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.
Christou CM et al.
Plos One, 2014
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Carvalho RS et al.
Plos One, 2014
MCPH1 protein expression and polymorphisms are associated with risk of breast cancer.
Jo YH et al.
Gene, 2013
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
Domchek SM et al.
Cancer Discovery, 2013
Functional and structural analysis of C-terminal BRCA1 missense variants.
Quiles F et al.
Plos One, 2013
A guide for functional analysis of BRCA1 variants of uncertain significance.
Millot GA et al.
Human Mutation, 2012