FANCMandRECQLhave recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations inRECQLandFANCMremains to be determined. In this study, we...
作者写道,“基于这项及以前发表的研究成果,我们建议将FANCM突变放入诊断性基因panel检测中。” 参考文献:Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol. Published online December 29, 2016.doi:10.1001/jamaoncol.2016.5592...
BRCA2,PALB2,ATM, andCHEK2are associated with breast cancer risk.FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes...
Neither Rad52 nor FANCM is an essential gene in mice33,40, and inactivation of Rad52 or FANCM does not significantly influence cell growth (Fig.6a). However, when Rad52 is depleted by shRNAs in FANCM KO cells, a strong proliferation defect is observed, suggesting a synthetic lethality intera...
werefoundtobebreastcancersuscepti-bility(BRCA)genes,BRCA2,PALB2andBRIP1(4–12).Moreover,FAgeneproductsarefoundtoactassignalingandDNA-processingmoleculesinaDNAdamageresponsenetwork(FA–BRCAnetwork).Thenetworkincludesmanyproteinsthathelptomaintaingenomeintegrity,particularlyBRCA1,ATRandBLM(3).Thus,studiesofFA...
Background: FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be ...
Neidhardt G, Hauke J, Ramser J, Gross E, Gehrig A, Muller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D et al: Association Between Loss-of- Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol. 2017;3(9):1245-8....
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....
(replisome: CMG-D) suggests a cellular anticipation of replication stress in regions that are more susceptible to DNA damage and collisions with transcriptional R loops36,37,38. Thus defects in DONSON24,25would preferentially influence the response to replication stress in active gene regions of ...
A single FA patient with biallelic FANCM mutations was reported in 2005 but concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene. Here we report three individuals with biallelic FANCM truncating mutations who developed early-onset cancer and toxicity to chemotherapy but did...