- Mutated EDC4 gene is involved in familial breast cancer.
- EDC4 gene encodes a protein that interacts with BRCA1 and also plays an important role in DNA repair.
- The other genes involved in breast cancer are BRCA1 and BRCA2
New gene: EDC4 is involved in familial breast cancer, finds a study conducted by Dr Jordi Surrallés, director of the Genetics Service at the Hospital de Sant Pau and professor of Genetics at the UAB, and by Dr Miquel Àngel Pujana, director of the ProCURE Research Programme of the Catalan Institute of Oncology (ICO, IDIBELL).
Scientists have found that the EDC4 gene encodes a protein which interacts with BRCA1 and also plays an important role in DNA repair through the homologous recombination mechanism. By using various sequencing techniques on thousand breast cancer patients and healthy controls, researchers have analyzed that the frequency of EDC4 mutation carriers is six times higher in familial cancer patients compared to healthy individuals.
The effects of the mutations were analyzed in detail using advanced engineering and genetic edition techniques. The results showed that the mutations were pathogenic as they affected the repairing capacity of the EDC4 gene. The researchers also demonstrated that the cells with mutated EDC4 were highly sensitive to PARP inhibitors. This helps to identify new therapeutic options for patients with these gene mutations.
Breast cancer is one of the most common cancers prevalent in our society. The most important genes involved in breast cancer are BRCA1 and BRCA2. BRCA1 is a tumor suppressor gene; it is involved in DNA repair through homologous recombination and preserves the integrity of the genome. Breast and ovarian tumors lacking one of these two genes are highly sensitive to PRAP inhibitors . It is important to study the new genes that are involved in repair mechanism because they help in identifying new therapies to cure cancer.
- Gonzalo Hernández, María José Ramírez, Jordi Minguillón, Paco Quiles, Gorka Ruiz de Garibay, Miriam Aza-Carmona, Massimo Bogliolo, Roser Pujol, Rosario Prados-Carvajal, Juana Fernández, Nadia García, Adrià López, Sara Gutiérrez-Enríquez, Orland Diez, Javier Benítez, Mónica Salinas, Alex Teulé, Joan Brunet, Paolo Radice, Paolo Peterlongo, Detlev Schindler, Pablo Huertas, Xose S Puente, Conxi Lázaro, Miquel Àngel Pujana & Jordi Surrallés. Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1. Nature Communications (2018)