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Article

Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.

Statistics in medicine - 10 Feb 2025

Ruberu Thanthirige Lakshika M, Braun Danielle, Parmigiani Giovanni, Biswas Swati

Abstract excerpt

Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of studies examine the risk of breast cancer (BC) conferred by pathogenic variants of these genes. A meta-analysis combining the reported risk estimates can provide an overall estimate of age-specific risk of developing BC, that is,...

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Identifiers

PMID: 39865362
DOI: 10.1002/sim.10323
PMCID: PMC11881752

Genes

ATM
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.PMID 39865362Read ↗

Bayesian meta-analysis of penetrance for cancer risk.Semantic proximity Read ↗

Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Semantic proximity Read ↗

Meta-Analysis of Breast Cancer Risk for Individuals with PALB2 Pathogenic VariantsSemantic proximity Read ↗

Meta-analysis of breast cancer risk for individuals with PALB2 pathogenic variants.Semantic proximity Read ↗

Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.Semantic proximity Read ↗

Statistical approaches for meta-analysis of genetic mutation prevalence.Semantic proximity Read ↗

Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.Semantic proximity Read ↗

Segregation analysis of 17,425 population-based breast cancer families: evidence for genetic susceptibility and risk predictionSemantic proximity Read ↗

Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic VariantsSemantic proximity Read ↗

Genetic and Nongenetic Risk Factors for Breast Cancer Risk Estimation.Semantic proximity Read ↗

Penetrance of breast cancer genes from the eMERGE III NetworkSemantic proximity Read ↗

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

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