Article

Heterozygous Pathogenic Nonsense ATM Variant Resulting in Unusually High Gastric Cancer Susceptibility

2021-10-28

Abstract excerpt

<title>Abstract</title> <p>We describe the unusual presentation of familial early-onset gastric cancer due to a heterozygous pathogenic<italic> </italic>variant in the <italic>ATM</italic> gene. The proband had gastric cancer (age 45), and reported a sister deceased for diffuse gastric cancer (age 30) and another sister who developed diffuse gastric cancer (age 52) and ovarian serous cancer. Next Generation Seque...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c1773e2e-c553-5465-961b-c9532b14e70c
DOI: 10.21203/rs.3.rs-1003666/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Heterozygous Pathogenic Nonsense ATM Variant Resulting in Unusually High Gastric Cancer SusceptibilityDOI 10.21203/rs.3.rs-1003666/v1Read

The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.Semantic proximity Read

Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.Semantic proximity Read

Prevalence of deleterious ATM germline mutations in gastric cancer patients.Semantic proximity Read

Disease spectrum of gastric cancer susceptibility genes.Semantic proximity Read

Protein-truncating and rare missense variants in<i>ATM</i>and<i>CHEK2</i>and associations with cancer in UK Biobank whole-exome sequenced dataSemantic proximity Read

Pathogenic Germline Variants in 10,389 Adult Cancers.Semantic proximity Read

Inherited rare, deleterious variants in <i>ATM</i> increase lung adenocarcinoma riskSemantic proximity Read

Loss-of-function variants in ATM confer risk of gastric cancer.Semantic proximity Read

A novel ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosisSemantic proximity Read

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patientsSemantic proximity Read

Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers.Semantic proximity Read

ATM mutations in patients with hereditary pancreatic cancer.Semantic proximity Read