Joellen M. Schildkraut

Functional Data Analysis of Spatial Clustering Identifies Prognostic T Cell Patterns in Ovarian Cancer

The paper develops a functional data analysis framework to model spatial clustering in ovarian cancer, identifying prognostic T cell patterns beyond immune cell abundance.

Transcriptomic subtypes in high-grade serous ovarian cancer are driven by tumor cellular composition

This study shows HGSC transcriptomic subtypes are driven by tumor cellular composition rather than intrinsic biology, with high predictive accuracy using deconvolution methods.

Deconvolved tumor adipocyte proportions and high grade serous ovarian carcinoma survival

The paper deconvolves adipocyte proportions from bulk RNA-seq data of HGSOC tumors and finds higher adipocyte content is associated with worse survival.

Cis- and trans-eQTL TWAS of breast and ovarian cancer identify more than 100 risk associated genes in the BCAC and OCAC consortia

This study performs cis- and trans-eQTL TWAS on breast and ovarian cancer data to identify 101 and 8 risk-associated genes, respectively, with several driven by trans-eQTLs.

Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies new candidate susceptibility genes for breast and ovarian cancer

This study improves transcriptome-wide association studies by integrating pleiotropy-guided methods with GWAS data to identify new cancer susceptibility genes.

Transcriptome and interactome analyses identify the TP53 interacting gene RCCD1 as a candidate susceptibility gene at the 15p26.1 breast and ovarian cancer risk locus

The paper identifies RCCD1 as a susceptibility gene for breast and ovarian cancer by fine-mapping a risk locus and showing its expression and interaction patterns are associated with cancer risk.

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associations

This study combines genome-wide association data from four cancers to identify shared and novel genetic associations and pleiotropic effects.

Population based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high grade serous ovarian cancer