Dmitry Pruss
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View article: Aspidodera sp. infection in six-banded armadillos (Euphractus sexcinctus) from a German zoo
Aspidodera sp. infection in six-banded armadillos (Euphractus sexcinctus) from a German zoo Open
View article: O04: Longitudinal validation in UK Biobank of a breast cancer risk model combining a multiple-ancestry polygenic score with traditional risk factors
O04: Longitudinal validation in UK Biobank of a breast cancer risk model combining a multiple-ancestry polygenic score with traditional risk factors Open
View article: P063: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries*
P063: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries* Open
Common genetic variants, mainly single nucleotide polymorphisms (SNPs), explain substantial genetic susceptibility to BC. PRS have been developed to quantify the combined effects of BC-associated SNPs, providing important information about…
View article: Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition
Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition Open
PURPOSE Polygenic risk scores (PRSs) for breast cancer (BC) risk stratification have been developed primarily in women of European ancestry. Their application to women of non-European ancestry has lagged because of the lack of a formal app…
View article: Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period
Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period Open
PURPOSE Hereditary cancer genetic testing can inform personalized medical management for individuals at increased cancer risk. However, many variants in cancer predisposition genes are individually rare, and traditional tools may be insuff…
View article: Breast cancer brain metastases show increased levels of genomic aberration-based homologous recombination deficiency scores relative to their corresponding primary tumors
Breast cancer brain metastases show increased levels of genomic aberration-based homologous recombination deficiency scores relative to their corresponding primary tumors Open
View article: Breast cancer brain metastases show increased levels of genomic aberration based homologous recombination deficiency scores relative to their corresponding primary tumors
Breast cancer brain metastases show increased levels of genomic aberration based homologous recombination deficiency scores relative to their corresponding primary tumors Open
Due to its mechanism of action, PARP inhibitor therapy is expected to benefit mainly tumor cases with homologous recombination deficiency (HRD). Various measures of genomic scarring based HRD scores were developed as a companion diagnostic…
View article: The molecular landscape of genome instability in prostate cancer (PC)
The molecular landscape of genome instability in prostate cancer (PC) Open
View article: AluY-mediated germline deletion, duplication and somatic stem cell reversion in<i>UBE2T</i>defines a new subtype of Fanconi anemia
AluY-mediated germline deletion, duplication and somatic stem cell reversion in<i>UBE2T</i>defines a new subtype of Fanconi anemia Open
Fanconi anemia (FA) is a rare inherited disorder clinically characterized by congenital malformations, progressive bone marrow failure and cancer susceptibility. At the cellular level, FA is associated with hypersensitivity to DNA-crosslin…
View article: Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes Open
Based on current consensus guidelines and standard practice, many genetic variants detected in clinical testing are classified as disease causing based on their predicted impact on the normal expression or function of the gene in the absen…