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

被引：0
作者：
Paolo Peterlongo
Gisella Figlioli
Andrew J. Deans
Fergus J. Couch
机构：
[1] IFOM – The FIRC Institute for Molecular Oncology,Genome Diagnostics Program
[2] St Vincent’s Institute,Genome Stability Unit
[3] Fitzroy,Departments of Health Sciences Research
[4] Laboratory Medicine and Pathology,undefined
[5] and Oncology,undefined
[6] Mayo Clinic,undefined
来源：
npj Breast Cancer | / 7卷
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摘要：
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.
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