Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
Paolo Peterlongo, Gisella Figlioli, Andrew J. Deans, Fergus J. Couch
Abstract
FANCM protein truncating variants (PTVs) are emerging as risk factors for ER-negative and triple negative breast cancer. Here, we discuss evidence that greatest risk associates with PTVs, such as p.Arg658*, that extensively truncate the 2048 amino acid FANCM protein. Moreover, risks associated with other less-truncating FANCM PTVs such as p.Gln1701* and p.Gly1906Alafs12* may be amplified by additional gene variants acting as modifiers. Further studies need to be conducted taking into considerations these aspects.
Topics & Concepts
Triple-negative breast cancerBiologyGeneticsBreast cancerGeneCancerCancer researchRNA and protein synthesis mechanismsRNA modifications and cancerMachine Learning in Bioinformatics