Neoplasm

In a prospective clinical study including 52 patients, expression of AR-FL or AR-V1 or AR-V3 or AR-V7 or AR-V9 are not significantly associated with PSA response change. However, in a multivariate ana… (full text at CIViC)

PMID 31180178 · Sieuwerts et al., 2019 · Open in CIViC

In a clinical study including 54 patients treated with taxane, AR-V567es expression is significantly correlated with a response change in PSA (p = 0.04) and a decrease in PFS (p = 0.02).

PMID 30301829 · Tagawa et al., 2019 · Open in CIViC

Castration Resistant Prostate Cancer (CRPC) often develops after Androgen Deprivation Therapy due to reactivation of transcription of the Androgen Receptor (AR). Transcriptional reactivation can be du… (full text at CIViC)

PMID 28473535 · Kohli et al., 2017 · Open in CIViC

LNCaP-FGC cells with mutations at codon 741 (W741C, W741L) were able to use bicalutamide as an AR agonist, promoting cell growth and increased prostate-specific antigen secretion.

PMID 12517791 · Hara et al., 2003 · Open in CIViC

This retrospective study analyzed the role of ASCL1 expression in the overall prognosis of patients with atypical teratoid rhabdoid tumors. ASCL1 expression was found to correlate with superior 5-year… (full text at CIViC)

PMID 25882982 · Torchia et al., 2015 · Open in CIViC

ASNS amplification and expression was associated with resistance to L-asparaginase in ovarian cancer and leukemia cell lines. ASNS silencing increased sensitivity to l-ASP in 2/3 of ovarian cancer cel… (full text at CIViC)

PMID 17088436 · Lorenzi et al., 2006 · Open in CIViC

Alveolar soft part sarcoma (ASPS) is characterized by the presence of an unbalanced translocation der(17)t(X;17)(p11;q25). In this 2001 paper, FISH with YAC and cosmid probes was used to localize the… (full text at CIViC)

PMID 11244503 · Ladanyi et al., 2001 · Open in CIViC

In this 2012 paper, the authors assessed potential characteristic markers in 24 alveolar soft part sarcoma (ASPS cases), age range from 13 to 61 years, and 23 non-ASPS tumors. Nuclear immunoreactivity… (full text at CIViC)

PMID 21835426 · Tsuji et al., 2012 · Open in CIViC

Preclinical evidence for epigenetic inactivation of ASS1 as a determinant of response to platinum chemotherapy suggesting that silencing of ASS1 contributes to treatment failure and clinical relapse i… (full text at CIViC)

PMID 19533750 · Nicholson et al., 2009 · Open in CIViC

90% out of 700 sarcoma samples (comprising 45 histologies) demonstrated loss or reduction of argininosuccinate synthetase 1 expression. Arginine auxotrophy confers sensitivity to arginine deprivation.… (full text at CIViC)

PMID 27735949 · Bean et al., 2016 · Open in CIViC

In patients with de novo AML who received intensive chemotherapy, ASXL1 mutations (N=51) were associated with shorter overall (P<0.001) and event free survival (P=0.012) compared to ASXL1 wild-type (N… (full text at CIViC)

PMID 23018865 · Schnittger et al., 2013 · Open in CIViC

Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… (full text at CIViC)

PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC

In a meta-analysis of six studies totalling 3311 patients with non-M3 acute myeloid leukemia, those with mutations in ASXL1 had worse overall survival than wild-type patients (Hazard ratio 1.86, 95% C… (full text at CIViC)

PMID 25308295 · Shivarov et al., 2015 · Open in CIViC

In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The ATF7IP-JAK2 fusion is rare; in this study inv… (full text at CIViC)

PMID 27870571 · Roberts et al., 2017 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the A2062V variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the C2488Y variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7089+1del variant on ATM expression was tested by … (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7515+1_2del variant on ATM expression was tested b… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.902-1G>T variant on ATM expression was tested by w… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1682H variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1930V variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC)

PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC

In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC)

PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the E2187* variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F1025L variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F2732V variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In a PDX lung cancer model containing a heterozygous ATM F858L mutation, the MEK inhibitor selumetinib completely blocked tumor growth and induced tumor regression.

PMID 27922010 · Smida et al., 2016 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K293* variant on ATM expression was tested by wester… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K468FS variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the L2427P variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In a phase1 trial, patients with an advanced solid tumor harboring aberrations in DNA damage repair genes including ATM were treated with ATR inhibitor BAY 1895344. Among 10 patients with ATM loss of … (full text at CIViC)

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Knockdown or inactivation of ATM in KRAS-mutant (H460), KRAS- and BRAF-wildtype (H322), and BRAF-mutant (H1755) lung cancer cell lines sensitized these cell lines to trametinib.

PMID 27922010 · Smida et al., 2016 · Open in CIViC

Bi-allelic Atm deletion in mouse models of Kras-mutant lung adenocarcinoma does not affect cisplatin responses. In marked contrast, Atm-deficient tumors displayed an enhanced response to the topoisome… (full text at CIViC)

PMID 28363999 · Schmitt et al., 2017 · Open in CIViC

In a study of 406 previously untreated CLL cases, a multivariate analysis indicated that aberrations (N=44; mixed pathogenic germline and somatic) in exons 2-63 of ATM were significantly associated wi… (full text at CIViC)

PMID 26837699 · Nadeu et al., 2016 · Open in CIViC

ATM point mutations were found in 8/57 patients with CLL and were associated with a shorter treatment-free interval, suggesting a more aggressive course.

PMID 21993670 · Guarini et al., 2012 · Open in CIViC