Patricia N. Tonin

Genetic and molecular analyses of candidate germline BRIP1/FANCJ variants implicated in breast and ovarian cancer

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 germline DNA repair gene landscape in BRCA1 and BRCA2 implicated hereditary breast cancer families

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.

The genetic analysis of a founder Northern American population of European descent identifies FANCI as a candidate familial ovarian cancer risk gene

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