Susan M. Domchek

This study identifies two cell-of-origin-driven subtypes of BRCA1-associated TNBC, showing that tumor subtype depends on the cell type initiating the cancer.

The eREACH2 study evaluates a digital intervention for cancer genetic testing compared to traditional counseling, aiming to improve access and outcomes for at-risk patients.

This study reports a 5.4% rate of pathogenic germline variants in a racially diverse cohort of prostate cancer patients, with significant associations between PGV rates and age at diagnosis and self-identified race.

eREACH2 evaluates a digital alternative to genetic counseling for cancer genetic testing, finding it non-inferior for service uptake and anxiety but inconclusive for knowledge, with mixed outcomes for result disclosure.

The paper identifies reversion mutations in homologous recombination genes across cancers, showing they restore DNA repair and confer PARP inhibitor resistance through specific structural alterations.

This study examines if disclosing polygenic risk scores reduces decisional conflict in BRCA1/2 carriers considering risk-reducing mastectomy, finding decreased conflict and moderation by tolerance for ambiguity.

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.

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

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.

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.

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

This study identifies PRMT inhibitors as effective combinational therapies with PARP inhibitors to sensitize HR-proficient ovarian and breast cancer cells to treatment.

This study identifies seven novel genetic loci associated with high-grade serous ovarian cancer risk using a large-scale GWAS and develops polygenic scores for improved risk prediction.

The paper identifies how germline and somatic mutations interact to cause resistance to CDK4/6 inhibitors in breast cancer and proposes a sequential treatment strategy using PARP inhibitors.

The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.

HRDex calculates HRD scores from whole exome sequencing data to identify BRCA-deficient tumors, showing high accuracy in breast cancer and moderate in ovarian cancer.

This paper develops polygenic risk scores for breast cancer prediction in women of African ancestry by combining African and European ancestry datasets, improving prediction accuracy.

This study identifies 32 new breast cancer susceptibility loci through GWAS, with associations varying by tumor subtype and genetic correlations among subtypes.

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.