Given the personalized medicine, information about genetic changes in the tumor can help to elucidate the right therapeutic decision. The completion of the human genome project and the continuous advancement in genetic research will facilitate the diagnosis and treatment of many diseases. Genomic studies...
and a pathogenic mutation (germline and/or somatic) in an HRR gene (BRCA1, BRCA2, ATM, ATR, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C) who have not yet had treatment in the setting of CRPC, depending on prior treatment in other disease settings (Saad et al....
Seventeen articles describing mutations in genes other than BRCA were found, and the majority of mutations were in the TP53, MUTYH, ATM, PALB2 and CHEK2 genes. The description of the pathogenic mutation frequency found in each gene distributed by region of the country is shown in Table 1. ...
Asian (5.0%) and other (1.6%) patients. The impact of germlineBRCAmutation on the survival of PC patients remains a subject of research. Positive results have been reported with the use of targeted therapies, particularly
2 Current NCCN prostate cancer guidelines state that clinicians should consider genetic testing for all patients with metastatic, regional, very high-risk disease, or high-risk disease regardless of family history. Testing is suggested for the following genes: BRCA1, BRCA2, ATM, PALB2, and ...
(BRCA1,BRCA2,TP53,STK11,PTEN,CHD1,ATM,PALB2andCHEK2). Predicted risks at 5 years and age dictate the screening strategy. For those aged 40–49 years: women with a 5-year risk of <1.3% are not being offered screening, those with a 5-year risk of 1.3% or greater are undergoing ...
as well as the scarcity of tumor tissue obtainable for clinical diagnostics or research [141]. The majority of biomarkers of response and resistance to checkpoint blockade have focused on tumor-intrinsic or immune-specific markers, such as PD-L1, TMB-high, and MSI-H/dMMR. The role of PD-...
Fig. 2 Summary of HER2 mutations in the COSMIC database (a) and mutation information of HER2 in our previous two studies (b) Full size image There was growing research evidence reported from preclinical and clinical therapeutic trials in GBC. Ah-Rong and co-workers61 found that HER2+ SNU-...
microhomologymediated end joining; MRN, MRE11–RAD50–NBS1 protein complex; NBN, Nibrin; NHEJ, non-homologous end joining; PARP, poly (ADP-ribose) polymerase; PALB2, partner and localiser of BRC; PARPi, PARP inhibitor; RAD51, eukaryote gene of RAD51 protein family; SSB, single-strand br...
Further research is also needed to identify ways to predict which patients will respond to niraparib treatment, either in the short or the long term (>18 months). Speculatively, non-HRD factors—such as amplification of CCNE1 (which encodes cyclin E1, a cell cycle regulator)—may serve as...