BRCA gene mutations in cancer

This paper evaluates methods to incorporate alternative polygenic risk scores into the BOADICEA breast cancer risk prediction model, finding that retrospective likelihood approaches provide more accurate estimates.

This study uses low-pass whole genome sequencing to impute variants and construct polygenic risk scores for breast cancer in an underrepresented Arab population, finding associations with family history and age of presentation.

The paper analyzes BRCA1 and BRCA2 mutations in ovarian cancer patients from Russia, identifying common and novel variants and estimating the age of a founder mutation.

The paper estimates the number of unobserved pathogenic BRCA1/2 variants globally using ecological species richness methods and finds 45-88% of variants are missing in study data.

This paper evaluates polygenic risk scores for breast cancer prediction in Korean women, finding that combining Asian and European PRS improves discrimination over lifestyle factors.

The paper evaluates clinical checklists for genetic testing in pediatric oncology, finding low specificity and missing 25% of children with cancer predisposition variants.

This study analyzes 17,425 breast cancer families to assess genetic factors contributing to familial risk, finding a recessive risk component and polygenic factors explain residual familial variance.

This paper updates the BOADICEA cancer risk prediction model to include new genetic variants and continuous risk factors, improving risk reclassification for specific gene carriers.

This study analyzes whole-exome sequencing data from Nigerian prostate cancer tumors to identify germline and somatic variants associated with African ancestry and DNA repair gene mutations.

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.

The paper uses whole-exome sequencing data to identify novel breast cancer susceptibility genes and assess the contribution of coding variants to breast cancer risk.

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

This study analyzes germline variants in 1682 Brazilian patients with cancer histories, identifying 321 pathogenic/likely pathogenic variants across 32 genes and highlighting gaps in current genetic testing guidelines.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

This study identifies Chinese-specific BRCA1/2 mutation-associated cancer risk regions and characterizes mutation penetrance in a Chinese population.

The paper analyzes germline mutations in 84 sporadic breast cancer patients from Pakistan, finding 11.9% with mutations in BRCA1, BRCA2, and TP53, mostly truncating variants.

The paper demonstrates federated analysis of BRCA1 and BRCA2 variants in a Japanese cohort to interpret variants of uncertain significance without transferring sensitive data.

The paper identifies cell-type-specific epigenomic differences in pre-cancerous breast tissues of BRCA1 mutation carriers compared to non-carriers.

This paper introduces a high-throughput assay for detecting germline pathogenic variants in breast cancer susceptibility genes using mixed genomic DNA samples, achieving 89.9% recall and 92.9% precision when mixing 20 samples.

This paper identifies FANCI c.1813C>T as a candidate familial ovarian cancer risk allele in a French Canadian population with founder effects.

This study assesses how polygenic risk scores, high-impact monogenic variants, and family history influence breast and prostate cancer risk using UK Biobank data.

The paper develops a multifactorial risk model for epithelial tubo-ovarian cancer incorporating genetic and epidemiological factors to stratify risk and guide screening.

This paper evaluates computational methods to infer germline vs. somatic variants from tumor-only sequencing data using 1,608 patients and compares results to germline testing.

The paper shows that polygenic risk scores significantly affect the penetrance of rare breast cancer mutations and highlights the importance of including polygenic background in genetic risk assessments.

This study evaluates a polygenic risk score for breast cancer in women aged 70 and older, finding it improves risk prediction beyond conventional factors.

This study reports a silent BRCA2 mutation associated with hereditary breast cancer in a male patient and his family, highlighting its potential spliceogenic effect and clinical relevance.

This study evaluates a population genetic screening program mediated by primary care physicians, finding actionable variants in nearly 8% of patients and suggesting its potential to improve preventative care.

The paper functionally analyzes PALB2 missense variants to improve clinical variant interpretation by providing evidence for pathogenic or benign classifications.

The paper develops and validates a mammalian 2-hybrid assay to classify BRCA1 RING domain missense substitutions, finding 20% are pathogenic and classifying 89% of observed variants.