Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer

Paolo Peterlongo; Gisella Figlioli; Andrew J Deans; Fergus J Couch

doi:10.1038/s41523-021-00338-1

Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer

NPJ Breast Cancer. 2021 Sep 28;7(1):130. doi: 10.1038/s41523-021-00338-1.

Authors

Paolo Peterlongo¹, Gisella Figlioli², Andrew J Deans³, Fergus J Couch⁴

Affiliations

¹ Genome Diagnostics Program, IFOM - The FIRC Institute for Molecular Oncology, Milan, Italy. paolo.peterlongo@ifom.eu.
² Genome Diagnostics Program, IFOM - The FIRC Institute for Molecular Oncology, Milan, Italy.
³ Genome Stability Unit, St Vincent's Institute, Fitzroy, Victoria, Australia.
⁴ Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, USA.

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.