4.2 Review

First international workshop of the ATM and cancer risk group (4-5 December 2019)

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A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

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Summary: This study successfully improved and standardized variant classification for the ATM gene through collaborative efforts, resulting in a reduction of variants of uncertain significance. It highlights the importance of data sharing, data curation, and expertise in achieving improved variant classification.

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Summary: This study provides population-based estimates of the prevalence and risk of breast cancer associated with pathogenic variants in known cancer-predisposition genes. The results highlight the varying levels of risk associated with different genes, such as high risk for BRCA1 and BRCA2 and moderate risk for PALB2, as well as associations with specific subtypes of breast cancer for genes like RAD51C and RAD51D.

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Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

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Summary: This study sequenced samples from 60,466 women with breast cancer and 53,461 controls using a panel of 34 putative susceptibility genes, identifying associations between protein-truncating variants in certain genes and breast cancer risk. The results provide important information for genetic counseling and define genes that are most clinically useful for predicting breast cancer risk.

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Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study

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Summary: The study suggests that carriers of germline ATM mutations have an increased risk of prostate cancer, especially those with tier 1 variants. Additionally, patients diagnosed at a younger age tend to have higher frequencies of tier 1 variants.

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Bruna Dalmasso et al.

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Rare germline genetic variants and risk of aggressive prostate cancer

Tu Nguyen-Dumont et al.

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Olaparib for Metastatic Castration-Resistant Prostate Cancer

J. de Bono et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

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Maha Hussain et al.

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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia

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Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

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The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers

Britta Weigelt et al.

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The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers

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Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

A. Tavera-Tapia et al.

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Rare germline variants in known melanoma susceptibility genes in familial melanoma

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Bing-Jian Feng

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ATM, radiation, and the risk of second primary breast cancer

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Jazlyn Read et al.

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HBOC multi-gene panel testing: comparison of two sequencing centers

Christopher Schroeder et al.

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Whole genomes redefine the mutational landscape of pancreatic cancer

Nicola Waddell et al.

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Douglas F. Easton et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

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J. Mateo et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

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Agnieszka K. Witkiewicz et al.

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Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

Allison W. Kurian et al.

JOURNAL OF CLINICAL ONCOLOGY (2014)

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The ATM protein kinase: regulating the cellular response to genotoxic stress, and more

Yosef Shiloh et al.

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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

Andrew V. Biankin et al.

NATURE (2012)

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ATM Mutations in Patients with Hereditary Pancreatic Cancer

Nicholas J. Roberts et al.

CANCER DISCOVERY (2012)

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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Romain Micol et al.

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Genome-wide association study identifies three new melanoma susceptibility loci

Jennifer H. Barrett et al.

NATURE GENETICS (2011)

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Rare variants in the ATM gene and risk of breast cancer

David E. Goldgar et al.

BREAST CANCER RESEARCH (2011)

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ATM-Dependent and -Independent Dynamics of the Nuclear Phosphoproteome After DNA Damage

Ariel Bensimon et al.

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Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

Sean V. Tavtigian et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

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Risk of cancer by ATM missense mutations in the general population

Sarah Louise Dombernowsky et al.

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ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

Shuhei Matsuoka et al.

SCIENCE (2007)

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Histopathological features of breast cancer in carriers of ATM gene variants

R. L. Balleine et al.

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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Anthony Renwick et al.

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Cancer risks and mortality in heterozygous ATM mutation carriers

D Thompson et al.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2005)

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Ataxia-telangiectasia genes and breast cancer risk in a French family study

N Andrieu et al.

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Polygenic inheritance of breast cancer: Implications for design of association studies

AC Antoniou et al.

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Cancer risk in heterozygotes for ataxia-telangiectasia

B Geoffroy-Perez et al.

INTERNATIONAL JOURNAL OF CANCER (2001)

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Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries

JH Olsen et al.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2001)

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ATM-dependent phosphorylation of nibrin in response to radiation exposure

M Gatei et al.

NATURE GENETICS (2000)