Work

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

Year: 2021

Type: article

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.

Source: npj Breast Cancer

DOI: 10.1038/s41523-021-00338-1

Authors: Paolo Peterlongo, Gisella Figlioli, Andrew J. Deans, Fergus J. Couch

Institutions: IFOM, St Vincents Institute of Medical Research, Mayo Clinic

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,170