Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1526P
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ATM

NM_000051.4:p.P1526P

Associated Papers

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S6

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses.

Hurník P et al.

Bmc Oral Health, 2023

37573343 (PubMed )
Supplement: 12903_2023_3259_MOESM1_ESM.xlsx › 202112658_AMEL_SNP_Table

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Ramassone A et al.

Journal of Hematology & Oncology, 2019

31744508 (PubMed )
Supplement: 13045_2019_802_MOESM7_ESM.xlsx › Foglio1

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

Identification of a structurally novel BTK mutation that drives ibrutinib resistance in CLL.

Sharma S et al.

Oncotarget, 2016

27626698 (PubMed )
Supplement: oncotarget-07-68833-s002.xlsx › All4CLLSamples

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

Prodosmo A et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2016

ATM gene mutations in sporadic breast cancer patients from Brazil.

Mangone FR et al.

Springerplus, 2015

Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Petereit DG et al.

Frontiers in Oncology, 2013

Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer.

Knappskog S et al.

Breast Cancer Research : Bcr, 2012

Analysis of D1853N ATM polymorphism in radiosensitive patients with cervical carcinoma.

Beránek M et al.

Acta Medica (hradec Kralove), 2011

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

Paglia LL et al.

Breast Cancer Research and Treatment, 2010

Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients.

Pugh TJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Nguyen-Dumont T et al.

Human Mutation, 2009

Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.

Austen B et al.

British Journal of Haematology, 2008

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Concannon P et al.

Cancer Research, 2008

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

Brunet J et al.

Clinical Genetics, 2008

Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.

Ho AY et al.

International Journal of Radiation Oncology, Biology, Physics, 2007

A genetically determined dose-volume histogram predicts for rectal bleeding among patients treated with prostate brachytherapy.

Cesaretti JA et al.

International Journal of Radiation Oncology, Biology, Physics, 2007

Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.

Edvardsen H et al.

Radiation Oncology (london, England), 2007

ATM variants and cancer risk in breast cancer patients from Southern Finland.

Tommiska J et al.

Bmc Cancer, 2006

ATM sequence variants and risk of radiation-induced subcutaneous fibrosis after postmastectomy radiotherapy.

Andreassen CN et al.

International Journal of Radiation Oncology, Biology, Physics, 2006

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M et al.

Disease Markers, 2006

Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia.

Meier M et al.

Leukemia, 2005

Multi-center screening of mutations in the ATM gene among women with breast cancer - the WECARE Study.

Berstein JL et al.

Radiation Research, 2005

ATM sequence variants are predictive of adverse radiotherapy response among patients treated for prostate cancer.

Cesaretti JA et al.

International Journal of Radiation Oncology, Biology, Physics, 2005

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

Coutinho G et al.

American Journal of Medical Genetics. Part A, 2004

Absence of somatic ATM missense mutations in 58 mammary carcinomas.

Feng J et al.

Cancer Genetics and Cytogenetics, 2003

Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene.

Mauget-Faÿsse M et al.

Investigative Ophthalmology & Visual Science, 2003

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

Bernstein JL et al.

Human Mutation, 2003

Comprehensive scanning of the ATM gene with DOVAM-S.

Buzin CH et al.

Human Mutation, 2003

ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.

Grønbaek K et al.

Blood, 2002

ATM mutations are rare in familial chronic lymphocytic leukemia.

Yuille MR et al.

Blood, 2002

Mutation of the ATM gene is not involved in the pathogenesis of either follicle center lymphoma or its transformation to higher-grade lymphoma.

Lossos IS et al.

Leukemia & Lymphoma, 2002

Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.

Sommer SS et al.

Cancer Genetics and Cytogenetics, 2002

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.

Dörk T et al.

Cancer Research, 2001

Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.

Teraoka SN et al.

Cancer, 2001

ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

Sasaki T et al.

Human Mutation, 1998

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