Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
Researchers investigated the genetic characteristics of the FANCI gene, which has been linked to an increased risk of ovarian cancer. Using data from 171 CARTaGENE participants and other sources, they confirmed that a specific FANCI variant is associated with ovarian cancer and discovered potential genetic links to other cancer types.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
The Global Biobank Meta-analysis Initiative is a collaborative network of 23 biobanks, representing more than 2.2M consented participants with genetic data linked to electronic health records. This collaborative effort will improve genome-wide association studies’ power for diseases, benefit understudied diseases, and improve risk prediction.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. Using data from 920 CARTaGENE participants and four other sources, the researchers identified 20 novel genes with modest association evidence for overall and subtype-specific breast cancers.
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Researchers sought to describe how new genes might be associated with ovarian cancer risk amongst 5,249 CARTaGENE participants. They found that a FANCI gene mutation is more common in familial ovarian cancer patients.
Conditions Associated with Circulating Tumor-Associated Folate Receptor 1 Protein in Healthy Men and Women
This article examined how FOLR1 protein could potentially be way to detect early cancer. The team used electrochemical luminescence immunoassay. The study concluded that they should use caution when saying that serum FOLR1 can detect early cancer as there has not been a study with enough evidence to truly determine that.