Malignant progression of oral leukoplakia to squamous cell carcinoma (SCC) is rare in DC, especially in younger patients, and cutaneous SCC is only reported in 1.5% of cases of DC. Here we report a case of a 12-year-old female with a familial heterozygous RTEL1 (regulator of telomere elongation helicase 1) gene mutation associated with a severe phenotype of DC characterized by multiple cutaneous SCCs.

3 months ago

Journal

DKC1 (Dyskerin Pseudouridine Synthase 1)

ATM deletion

10ms

Germline variants of DNA repair and immune genes in lymphoma from lymphoma-cancer families. (PubMed, Int J Cancer)

In DLBCLs with germline PTVs of ATM, deletion and insertion in CD58 were further revealed. Thus, in lymphoma-cancer families, we identified germline defects of both DNA repair and immune genes in lymphoma patients.

10 months ago

Journal

ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • BCL6 (B-cell CLL/lymphoma 6) • CD58 (CD58 Molecule)

HRD • ATM deletion

1year

Evaluation of a real-world clinico-genomics database of patients with upper gastrointestinal (GI) malignancies in Japan. (ASCO-GI 2024)

As part of a nationwide cancer genome screening project, J-SCRUM GI SCREEN database provides comprehensive genomic information for Asian population (Japan). The prevalence of key actionable gene alterations in each tumor type was highly comparable between J-SCRUM GI-SCREEN and TCGA data.

1 year ago

Clinical • Real-world evidence • BRCA Biomarker • Genomic data • Real-world

HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2)

TP53 mutation • KRAS mutation • BRCA2 mutation • BRCA1 mutation • HER-2 amplification • PIK3CA mutation • MET amplification • KRAS G12D • ATM mutation • KRAS G12V • MYC amplification • CDKN2A mutation • ATM deletion • KRAS G12 • NFE2L2 mutation • KRAS deletion

1year

A Phase 2 Study of Acalabrutinib, Umbralisib, and Ublituximab (AU2) in Treatment-Naïve and Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) (ASH 2023)

Immune-related adverse events were frequently observed and required dose reduction of umbralisib in 38% of the patients but most were then able to stay on therapy. Longer follow-up is required to determine durability of remission off therapy.

1 year ago

P2 data • IO biomarker

TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • IGH (Immunoglobulin Heavy Locus) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta)

TP53 mutation • ATM mutation • NOTCH1 mutation • SF3B1 mutation • ATM deletion • TS 12

Calquence (acalabrutinib) • Ukoniq (umbralisib) • Briumvi (ublituximab-xiiy)

1year

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=229, Completed, Bayer | Recruiting --> Completed | Trial completion date: Apr 2025 --> Sep 2023

1 year ago

Trial completion • Trial completion date • Metastases

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

1year

Landscape of ESR1 mutations in advanced breast cancer using circulating tumor DNA (ctDNA) next-generation sequencing (NGS) in Asia and Middle East (AME) (ESMO Asia 2023)

Two pts each had homozygous deletions in ATM, BRCA2 and CHEK2; another had FGFR2 fusion (FGFR2-KIAA1598). Conclusions Comprehensive ctDNA NGS can identify ESR1 mutations along with co-alterations that may inform therapeutic decisions for patients with ABC in AME.

1 year ago

BRCA Biomarker • Next-generation sequencing • Circulating tumor DNA • Metastases

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • CCND1 (Cyclin D1) • CHEK2 (Checkpoint kinase 2) • GATA3 (GATA binding protein 3) • SHTN1 (Shootin 1)

TP53 mutation • ER positive • HER-2 amplification • PIK3CA mutation • MET amplification • FGFR2 mutation • FGFR2 fusion • ER mutation • ATM deletion • ER D538G • BRCA2 deletion • ESR1 mutation • BRCA1 deletion

Guardant360® CDx

over1year

SF3B1 mutation and ATM deletion co-drive leukemogenesis via centromeric R-loop dysregulation. (PubMed, J Clin Invest)

Aberrant splicing of key genes involved in R-loop processing underlies augmentation of cen-R-loop as overexpression of the normal isoform, but not the altered form, mitigates mitotic stress in SF3B1 mutant cells. Our study underscores the critical role of novel splice variants in linking RNA splicing dysregulation and CIN, and highlights cen-R-loop augmen-tation as a key mechanism for leukemogenesis.

over 1 year ago

Journal

SF3B1 (Splicing Factor 3b Subunit 1)

ATM mutation • SF3B1 mutation • ATM deletion • ATM deletion + SF3B1 mutation • ATM expression

over1year

miR-18a expression correlates with ATM and p53 levels and poor prognosis in lymphomas. (PubMed, J Cancer)

The results indicate that the deletion of ATM and p53 downstream of miR-18a is closely associated with the development of lymphoma. Thus, these biomarkers may serve as key prognostic biomarkers for lymphomas.

over 1 year ago

Journal

TP53 (Tumor protein P53) • MIR18A (MicroRNA 18a)

TP53 deletion • ATM deletion • TP53 expression • ATM expression

over1year

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=239, Recruiting, Bayer | Trial completion date: Apr 2024 --> Apr 2025

over 1 year ago

Trial completion date • Metastases

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

2years

PLX51107 Enhances the Anti-Tumor Activity of Targeted Therapy in Chronic Lymphocytic Leukemia When Combined with Venetoclax (ASH 2022)

Conclusion s : Our data indicates that a) PLX51107 has an antitumor effect in CLL cells; b) the combinational treatment of Venetoclax with PLX51107 highly improved the apoptotic effect of single agent treatments. A better understanding of the key signaling pathways for CLL cells' proliferation and survival impacted by BRD4i in combination with Venetoclax would provide a proof-of-concept rationale for studies validating BRD4i as epigenetic approach to target BCR signaling in CLL.

2 years ago

IO biomarker

TP53 (Tumor protein P53) • CCND1 (Cyclin D1) • BCL2L1 (BCL2-like 1) • BRD4 (Bromodomain Containing 4) • ANXA5 (Annexin A5) • BRD2 (Bromodomain Containing 2) • BRD3 (Bromodomain Containing 3) • BRDT (Bromodomain Testis Associated)

TP53 deletion • ATM deletion • BCL2 expression

Venclexta (venetoclax) • PLX51107

2years

ATM loss and therapeutic vulnerabilities in bladder cancer (EMUC 2022)

Deleting ATM in bladder cell lines is sufficient to increase sensitivity to direct DNA damaging agents such as cisplatin and radiation as well as DNA repair targeted agents such as PARP and ATR inhibitors...We find that ATM loss is present in a subset of tumors and is sufficient to confer sensitivity to multiple bladder cancer therapeutics in preclinical systems. ATM staining patterns by IHC vary by ATM mutation class and are associated with therapy response in clinical cohorts.

2 years ago

PARP Biomarker • PD(L)-1 Biomarker • IO biomarker

ATM (ATM serine/threonine kinase)

ATM deletion

cisplatin

2years

Genomic Characterization of Patients in a Phase 2 Study of Zanubrutinib in BTK Inhibitor–Intolerant Patients with Relapsed/Refractory B-Cell Malignancies (ASH 2022)

However, some patients (pts) have experienced toxicities to BTK inhibitors ibrutinib (ibr) and acalabrutinib (acala), which lead to dose reduction or treatment discontinuation. Exploratory analysis results confirmed that cell cycle, DNA damage, and NOTCH1 pathway genes were frequently mutated in pts with B-cell malignancies on study BGB-3111-215 (pts intolerant to ibr and/or acala). Pts with mutations associated with poor prognosis at baseline were more likely to develop PD.

2 years ago

P2 data • Clinical

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • SF3B1 (Splicing Factor 3b Subunit 1) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • CHEK2 (Checkpoint kinase 2) • BIRC3 (Baculoviral IAP repeat containing 3) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • PLCG2 (Phospholipase C Gamma 2) • CCND2 (Cyclin D2)

TP53 mutation • ATM mutation • NOTCH1 mutation • MYD88 mutation • SF3B1 mutation • MYD88 L265P • ATM deletion • RB1 deletion • CHEK2 mutation • CXCR4 mutation • FBXW7 mutation • PLCG2 mutation • KRAS deletion • MYD88 wild-type

PredicineHEME™

Imbruvica (ibrutinib) • Brukinsa (zanubrutinib) • Calquence (acalabrutinib)

2years

Combination of Ibrutinib Plus Venetoclax with MRD-Driven Duration of Treatment Results in a Higher Rate of MRD Negativity in IGHV Unmutated Than Mutated CLL: Updated Interim Analysis of FLAIR Study (ASH 2022)

Ibrutinib plus venetoclax leads to high MRD-negative rates in BM with 2 years of continuous therapy in both IGHV mutated and unmutated CLL. Patients with IGHV unmutated CLL are statistically more likely to achieve MRD negativity in the PB and BM with this combination as compared to IGHV mutated CLL.

2 years ago

IO biomarker • Minimal residual disease

TP53 (Tumor protein P53) • IGH (Immunoglobulin Heavy Locus)

ATM mutation • Chr del(11q) • ATM deletion • IGH mutation • TS 12

Venclexta (venetoclax) • Imbruvica (ibrutinib)

2years

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia. (PubMed, J Clin Oncol)

Germline ATM variants cluster within CLL and affect the phenotype of CLL that develops, implying that some of these variants (such as ATM p.L2307F) have functional significance and should not be ignored. Further studies are needed to determine whether these variants affect the response to therapy or account for some of the inherited risk of CLL.

2 years ago

Journal

ATM (ATM serine/threonine kinase)

Chr del(11q) • ATM deletion

2years

A Study of RP-3500 in Combination With Standard Radiation Therapy in People With Solid Tumor Cancer (clinicaltrials.gov)

P1/2, N=74, Recruiting, Memorial Sloan Kettering Cancer Center

2 years ago

New P1/2 trial • Combination therapy • Metastases

ATM (ATM serine/threonine kinase)

ATM mutation • ATM deletion

camonsertib (RP-3500)

2years

Efficacy of olaparib combined with dabrafenib and trametinib for a patient with metastatic melanoma with BRAF mutation and ATM deletion (JDP 2022)

No abstract available

2 years ago

Clinical • PARP Biomarker

BRAF (B-raf proto-oncogene)

BRAF mutation • ATM mutation • ATM deletion

Lynparza (olaparib) • Mekinist (trametinib) • Tafinlar (dabrafenib)

2years

The Effect of Atm Loss on Radiosensitivity of a Primary Mouse Model of Pten-Deleted Brainstem Glioma. (PubMed, Cancers (Basel))

In addition, we show that deletion of Atm in the tumor cells does not extend survival of mice bearing Pten-null brainstem gliomas after focal brain irradiation. These results characterize a novel primary mouse model of PTEN-mutated brainstem glioma and provide insights into the mechanism of radiosensitization by ATM deletion, which may guide the design of future clinical trials.

2 years ago

Preclinical • Journal

PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase)

PTEN deletion • ATM deletion

over2years

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=239, Active, not recruiting, Bayer | Recruiting --> Active, not recruiting

over 2 years ago

Enrollment closed

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

over2years

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=239, Recruiting, Bayer | Active, not recruiting --> Recruiting

over 2 years ago

Enrollment open

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

over2years

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=241, Active, not recruiting, Bayer | Trial primary completion date: Apr 2024 --> Dec 2022

over 2 years ago

Trial primary completion date

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

over2years

BAY1895344 and Copanlisib for the Treatment of Molecularly Selected Patients With Advanced Solid Tumors (clinicaltrials.gov)

over 2 years ago

Enrollment change • Trial completion date • Trial initiation date • Trial withdrawal • Trial primary completion date

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • FANCD2 (FA Complementation Group D2) • FANCC (FA Complementation Group C)

PIK3CA mutation • ATM mutation • PTEN mutation • ATM deletion • ATM expression

Aliqopa (copanlisib) • elimusertib (BAY 1895344)

over2years

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=241, Active, not recruiting, Bayer | Trial completion date: Oct 2023 --> Apr 2024 | Trial primary completion date: Sep 2023 --> Apr 2024

over 2 years ago

Trial completion date • Trial primary completion date

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

almost3years

Analytical validation of the Resolution HRD plasma assay used to identify mCRPC patients with mutations, including homozygous deletions, in DNA repair genes as a companion diagnostic for niraparib (AACR 2022)

The Resolution HRD assay offers highly sensitive, specific, and robust test results, and meets analytical requirements for clinical applications. It is intended as a companion diagnostic to niraparib in combination with abiraterone acetate plus prednisone (AAP) for the treatment of mCRPC patients.

almost 3 years ago

Clinical • Companion diagnostic • BRCA Biomarker • PARP Biomarker • BRCA Companion diagnostic • PARP Companion diagnostic

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • HDAC2 (Histone deacetylase 2)

HRD • ATM deletion • BRCA2 deletion • BRCA1 deletion

Zejula (niraparib) • abiraterone acetate

almost3years

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=241, Active, not recruiting, Bayer | Trial completion date: Feb 2023 --> Oct 2023 | Trial primary completion date: Jan 2023 --> Aug 2023

almost 3 years ago

Trial completion date • Trial primary completion date

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

3years

First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)

P2, N=241, Active, not recruiting, Bayer | Recruiting --> Active, not recruiting

3 years ago

Clinical • Enrollment closed

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)

ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive

elimusertib (BAY 1895344)

3years

Radiosensitizing the Vasculature of Primary Brainstem Gliomas Fails to Improve Tumor Response to Radiotherapy. (PubMed, Int J Radiat Oncol Biol Phys)

These results suggest that targeting the tumor cells, rather than endothelial cells, during radiotherapy will be necessary to improve survival of children with DIPG.

3 years ago

Journal

ATM (ATM serine/threonine kinase)

ATM deletion

over3years

[VIRTUAL] Prostatic Basal Cell Carcinoma With ATMDeletion (CAP 2021)

One other author has reported an ATM mutation, suggesting that the PARP inhibitor olaparib may be considered for targeted therapy...PARP inhibitors can effectively treat prostatic adenocarcinomas with mutations in genes involved in homologous recombination DNA repair. Further investigation may demonstrate that PARP inhibitors could also be indicated for PBCCs with mutations affecting homologous recombination.

over 3 years ago

BRCA Biomarker • PARP Biomarker • IO biomarker

HER-2 (Human epidermal growth factor receptor 2) • BRCA2 (Breast cancer 2, early onset) • BCL2 (B-cell CLL/lymphoma 2) • ATM (ATM serine/threonine kinase) • TP63 (Tumor protein 63) • GATA3 (GATA binding protein 3) • NKX3-1 (NK3 homeobox 1)

BRCA2 mutation • ATM mutation • ATM deletion

Lynparza (olaparib)

over3years

Clinical analysis of fludarabine and cyclophosphamide combined with rituximab in the first-line treatment of 43 cases of chronic lymphoblastic leukemia (PubMed, Zhonghua Xue Ye Xue Za Zhi)

All adverse reactions were controlled or recovered spontaneously. Previously untreated CLL patients treated with FCR had a high response rate and good survival rate, which is an important treatment choice for fit patients.

over 3 years ago

Clinical • Journal

TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)

TP53 deletion • ATM deletion • RB1 deletion • TS 12

Rituxan (rituximab) • fludarabine IV

over3years

BAY1895344 and Copanlisib for the Treatment of Molecularly Selected Patients With Advanced Solid Tumors (clinicaltrials.gov)

P1b, N=86, Not yet recruiting, M.D. Anderson Cancer Center

over 3 years ago

Clinical • New P1 trial

PIK3CA mutation • ATM mutation • PTEN mutation • ATM deletion • ATM expression

Aliqopa (copanlisib) • elimusertib (BAY 1895344)

4years

[VIRTUAL] A case of CLL/SLL with transdifferentiation to dendritic cell tumour and possibly a hybrid lymphodendritic cell neoplasm: the missing link? (ECP 2020)

FISH analysis using CLL probes showed identical deletion TP53, ATM, and deletion 13q14.3 in all 3 components. Conclusion Our study provides evidence for transdifferentiation of CLL/SLL to dendritic cell tumor possibly via the intermediate linklymplymphodendritic cell neoplasm, and suggests that EBV may play a role in this phenomenon.

4 years ago

Clinical

TP53 (Tumor protein P53)

ATM deletion

4years

[VIRTUAL] A case of CLL/SLL with transdifferentiation to dendritic cell tumour and possibly a hybrid lymphodendritic cell neoplasm: the missing link? (ECP 2020)

4 years ago

Clinical

TP53 (Tumor protein P53)

ATM deletion

4years

[VIRTUAL] A case of CLL/SLL with transdifferentiation to dendritic cell tumour and possibly a hybrid lymphodendritic cell neoplasm: the missing link? (ECP 2020)

4 years ago

Clinical

TP53 (Tumor protein P53)

ATM deletion

4years

[VIRTUAL] BRD4 Inhibitors Enhance the Anti-Tumor Activity of Targeted Therapy in Chronic Lymphocytic Leukemia (ASH 2020)

In this study, we investigated the preclinical activity of two BRD4i, AZD5153 and PLX51107, and their cooperative role with the BCL2 inhibitor venetoclax and BTK inhibitor ibrutinib in CLL. Modulation of BCL-2 family members following BRD4 inibition could play a role in the synergistic activity observed in our studies. A better understanding of the key signaling pathways involved in proliferation and survival of CLL cells impacted by BRD4i in combination with venetoclax and ibrutinib would provide a proof-of-concept rationale for studies validating BRD4i as epigenetic approach to target BCR signaling in CLL.

4 years ago

IO biomarker

MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CCND1 (Cyclin D1) • BAX (BCL2-associated X protein) • CDKN1A (Cyclin-dependent kinase inhibitor 1A)

ATM deletion

Venclexta (venetoclax) • Imbruvica (ibrutinib) • SRA515 • PLX51107

4years

[VIRTUAL] Spectrum of Hematological Malignancies in 130 Patients with Germline Predisposition Syndromes - Mayo Clinic Germline Predisposition Study (ASH 2020)

The advent of NGS allows identification of clonal progression earlier than morphological changes, with mutations in ASXL1 and RAS pathway genes being commonly implicated. This study supports the universal development of dedicated germline predisposition clinics.

4 years ago

Clinical

TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • ETV6 (ETS Variant Transcription Factor 6) • CHEK2 (Checkpoint kinase 2) • CBL (Cbl proto-oncogene) • CSF3R (Colony Stimulating Factor 3 Receptor) • GATA2 (GATA Binding Protein 2) • GATA1 (GATA Binding Protein 1)

TP53 mutation • ATM mutation • NF1 mutation • ASXL1 mutation • ATM deletion • CBL mutation • CHEK2 mutation

4years

Fluorescence in Situ Hybridization for Detecting Molecular Cytogenetic Abnormalities of Chronic Lymphocytic Leukemia (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)

FISH can greatly increase the detection rate of molecular cytogenetic abnormalities in CLL patients, which, as a powerful supplement to the conventional cytogenetics, can be applied for the clinical staging and prognosis evaluation of CLL patients.

4 years ago

Journal

RB1 (RB Transcriptional Corepressor 1) • CD38 (CD38 Molecule)

TP53 deletion • CD38 expression • ATM deletion

4years

Tumor genotype dictates radiosensitization after Atm deletion in primary brainstem glioma models. (PubMed, J Clin Invest)

Tumors lacking p53 and Ink4a/Arf expressed the highest level of Nqo1 and were most resistant to radiation, but deletion of Atm enhanced the radiation response. These results suggest that tumor genotype may determine whether inhibition of ATM during radiotherapy will be an effective clinical approach to treat DIPGs.

4 years ago

Journal

ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)

ATM deletion

4years

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. (PubMed, Breast Cancer)

Our findings contribute to the characterization of the genetic background of breast cancer predisposition in the Brazilian population as a useful resource to discriminate between deleterious variants and VUS, thus enabling improvement in the preventive health care and clinical management of carriers.

4 years ago

Clinical • Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset)

ATM deletion