Timothée Revil

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 analyzes germline DNA repair gene variants in BRCA1 and BRCA2 families to assess the prevalence of damaging variants in DNA repair genes beyond established breast cancer predisposing genes.

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 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.