Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.

JCO precision oncology - 1 Jun 2021

Gallagher Shannon, Hughes Elisha, Kurian Allison W, Domchek Susan M, Garber Judy, Probst Braden, Morris Brian, Tshiaba Placede, Meek Stephanie, Rosenthal Eric, Roa Benjamin, Slavin Thomas P, Wagner Susanne, Weitzel Jeffrey, Gutin Alexander, Lanchbury Jerry S, Robson Mark

Abstract excerpt

PURPOSE: Breast cancer risks for CHEK2 and ATM pathogenic variant (PV) carriers are modified by an 86-single nucleotide polymorphism polygenic risk score (PRS) and individual clinical factors. Here, we describe comprehensive risk prediction models for women of European ancestry combining PV status, PRS, and individual clinical variables. MATERIALS AND METHODS: This study included deidentified clinical records...

Topics

Join the communities discussing this publication.

Ataxia Telangiectasia Mutated Proteins
Breast Neoplasms
Checkpoint Kinase 2
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Logistic Models

Risk Assessment

Source

Open in PubMed Open full text

Identifiers

PMID: 34322652
DOI: 10.1200/PO.20.00484
PMCID: PMC8238281

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.PMID 34322652Read ↗

Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.Semantic proximity Read ↗

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.Semantic proximity Read ↗

High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.Semantic proximity Read ↗

Genomic risk prediction for breast cancer in older womenSemantic proximity Read ↗

Breast cancer risk prediction using Tyrer-Cuzick algorithm with an 18-SNPs polygenic risk score in a European population with below-average breast cancer incidence.Semantic proximity Read ↗

Tyrer-Cuzick Lifetime Risk is Not Associated with Non-BRCA1/2 Pathogenic Variants for Breast CarcinomaSemantic proximity Read ↗

Breast, Colorectal, and Pancreatic Cancer Mortality With Pathogenic Variants in ATM, CHEK2, or PALB2.Semantic proximity Read ↗

Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk.Semantic proximity Read ↗

Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.Semantic proximity Read ↗

Tyrer-Cuzick Lifetime Risk Is Not Associated With Non-BRCA1/2 Pathogenic Variants for Breast Carcinoma.Semantic proximity Read ↗

Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.