William David Foulkes

The paper investigates the differential contributions of MUTYH and PALB2 germline variants to colorectal polyposis and breast cancer using mutational signatures in a single patient.

This study uses a mouse model to identify a fibroblastic origin for DICER1 sarcomas and shows their potential to differentiate into rhabdomyoblastic or anaplastic sarcomas.

The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.

The paper investigates five BRIP1/FANCJ variants for their clinical relevance in breast and ovarian cancer, finding three likely damaging variants associated with cellular sensitivity to chemotherapy drugs.

The paper develops a genomic framework to identify genes predisposing to homologous recombination repair deficient breast cancer by integrating mutational signatures, exome data, and clinical-genomic analysis.

This paper uses ancestral recombination graphs to impute and trace rare variants in founder populations, showing high accuracy in mutation age and regional frequency estimation.

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

The paper specifies gene-specific rules for interpreting ATM variants using ACMG/AMP guidelines, improving classification accuracy in a pilot study.

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

The paper predicts cancer cell-of-origin from DNA sequences by matching mutational landscapes to chromatin modification patterns in normal tissues.

The paper evaluates a custom 13-gene breast cancer panel for variant calling, showing high target capture efficiency and concordance with validated variants.

The paper screens for DICER1 mutations in TGA patients and finds no apparent pathological mutations.