Sara Lindström

The paper identifies functional variants and VNTRs at the 5p15.33 locus using fine-mapping, MPRA, and CRISPRi screens, revealing their role in cancer susceptibility through antagonistic pleiotropy.

This study identifies genetic risk mechanisms for six cancers by analyzing isoform-level expression data, finding more associations and greater heritability explained compared to gene-level analysis.

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.

StocSum generates stochastic summary statistics for whole genome sequencing studies without external reference panels, enabling various genetic analyses and improving utility for underrepresented populations.

This paper identifies genetic loci associated with mammographic texture variation and finds significant genetic correlations with breast cancer risk and mammographic density.

The paper creates ancestry-specific linkage disequilibrium block maps for GRCh38, providing updated LD blocks for four populations.

The paper identifies non-coding RNAs that mediate gene expression regulation in breast and prostate tissue and overlap with genetic signals for cancer susceptibility.

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