BRCA gene mutations in cancer

Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression

The paper uses saturation genome editing to evaluate BARD1 variants, resolving most variants of uncertain significance and confirming their role in tumor suppression.

A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair deficient breast cancer

The paper develops a genomic framework to identify genes predisposing to homologous recombination repair deficient breast cancer by integrating mutational signatures, exome data, and clinical-genomic analysis.

Benchmarking homologous recombination deficiency algorithms for prediction of clinical outcome in ovarian cancer

This study benchmarks three HRD detection algorithms in ovarian cancer patients, finding all showed significant association with improved progression-free survival, while BRCA1/2 mutations did not.

BRCA mutation alters the stromal landscape in normal ovaries

This study shows BRCA mutations alter ovarian stromal structure by promoting fibroblast senescence and myofibroblastic transformation, creating a metastatic niche for early ovarian cancer.

Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.

This study finds BRCA1 and BRCA2 carriers have increased DNA damage and growth in gastric epithelium and organoids, suggesting haploinsufficiency contributes to early gastric cancer development.

eREACH: A randomized trial of digital alternatives to genetic counseling for metastatic cancer

eREACH evaluates digital alternatives to genetic counseling for metastatic cancer patients, finding non-inferiority in short-term outcomes for one GC visit or fully digital models.

Genomic profiling of young-onset gBRCA1/2 breast cancer reveals distinct genomic landscapes and therapeutic implications for PARP and CDK4/6 inhibitor selection

This study compares genomic features of gBRCA1 and gBRCA2 breast cancers, finding distinct mutational patterns and therapeutic implications for PARP and CDK4/6 inhibitors.

BRCA2-deficiency Causes Global Transcriptomic Alterations in Endothelial Cells

This study identifies 3196 differentially expressed genes in BRCA2-deficient endothelial cells and highlights altered pathways related to cell adhesion and cytokine signaling.

An implementation study of the service model for genetic risk-based stratified breast cancer screening - Estonian results of the BRIGHT project

The paper evaluates a genetic risk-based breast cancer screening model in younger women, showing its feasibility, clinical utility, and acceptability.

Integrative Gene-Centric Analysis of Breast Cancer: High-Confidence Germline Predisposition Genes from Population-Scale Cohorts

The paper identifies high-confidence breast cancer predisposition genes using multi-ethnic genomic data and integrates GWAS, TWAS, and PWAS to refine the genetic architecture of heritable breast cancer.

Identification and Characterization of Rare Pathogenic Genetic Variants Associated with Breast Cancer Susceptibility in 1000 Genome and gnomAD Population

The paper identifies and characterizes rare pathogenic variants in breast cancer genes using gnomAD and 1000 Genomes data, showing high-risk genes have more pathogenic variants and better predictive scores.

Association between polygenic risk and survival in breast cancer patients

This study finds that higher polygenic risk scores for breast cancer are associated with longer survival in patients, suggesting a link between genetic predisposition and less aggressive tumors.

When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.

The paper evaluates the performance of functional assays and computational tools in classifying BRCA1 missense variants using a Bayesian framework and empirical validation.

Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk

This study uses saturation genome editing to assess BRCA1 variants across cell types, identifying functionally impactful variants and revealing context-dependent cancer risk.

Pathogenic BRCA1 DBD variants exhibit altered DNA binding affinities and susceptibility to menadione

This study examines how specific BRCA1 DNA binding domain variants affect DNA binding affinities and DNA damage response in human cells.

Genetic testing in cancer: a systematic review of patient reported measures

This review identifies and summarizes patient-reported measures used in genetic testing for cancer, highlighting the need for more measures in non-breast cancers.

The germline DNA repair gene landscape in BRCA1 and BRCA2 implicated hereditary breast cancer families

The paper analyzes germline DNA repair gene variants in BRCA1 and BRCA2 families to assess the prevalence of damaging variants in DNA repair genes beyond established breast cancer predisposing genes.

Assessing germline mutational profile and its clinicopathological associations in Triple Negative Breast Cancer

The paper analyzes germline mutations in TNBC patients in India and identifies BRCA1/2 as the most common mutated genes, with novel mutations and a higher proportion of variants of uncertain significance in non-BRCA genes.

Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam

This study identifies BRCA2 mutations in a Brunei breast cancer cohort, finding 5% carrier rate and a potential founder effect in the Chinese population.

Integrating breast tumor homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

This paper integrates tumor homologous recombination deficiency status with germline BRCA1 and BRCA2 variant classification to improve pathogenicity prediction.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

This study evaluates breast cancer risks associated with pathogenic variant type and location in BRCA2 and other genes, finding differential risks based on variant position.

A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians using Exome Sequencing

The paper validates a breast cancer polygenic risk score in a Brazilian cohort using exome sequencing, finding PRS3820 performs best across different ancestry groups.

Polygenic Risk Scores Across Genomic Platforms for Reliable Breast Cancer Risk Stratification

This paper evaluates differences in a breast cancer polygenic risk score across genomic platforms and finds that calibration improves consistency in high-risk classification.

Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us Dataset

The paper analyzes pathogenic germline variants in cancer susceptibility genes across a large population using the All of Us dataset, finding 5.05% prevalence with significant racial variation.

Breast cancer multigene germline panel testing in mainstream oncology based on clinical-public health utility (cancer mortality benefit): ESMO Precision Oncology Working Group recommendations

The paper recommends a standardized multigene germline panel for breast cancer patients based on cancer mortality benefit, including specific genes and excluding others.

Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer

This study uses exome sequencing to identify HELB as a novel susceptibility gene for non-high grade serous epithelial ovarian cancer, with a strong association found in genetic analyses.

Knowledge of healthcare workers in the domain of oncogenetics

This study assesses oncogenetics knowledge among healthcare workers, finding gaps in breast cancer-specific knowledge and gender differences.