Meta‐analysis of breast cancer risk for individuals with PALB2 pathogenic variants
Multigene panel testing now allows efficient testing of many cancer susceptibility genes
leading to a larger number of mutation carriers being identified. They need to be counseled …
leading to a larger number of mutation carriers being identified. They need to be counseled …
Bayesian meta-analysis of penetrance for cancer risk
Multi-gene panel testing allows many cancer susceptibility genes to be tested quickly at a
lower cost making such testing accessible to a broader population. Thus, more patients …
lower cost making such testing accessible to a broader population. Thus, more patients …
Impact of population screening for Lynch syndrome insights from the All of Us data
Lynch Syndrome (LS) is a common genetic cancer condition that allows for personalized
cancer prevention and early cancer detection in identified gene carriers. We used data from …
cancer prevention and early cancer detection in identified gene carriers. We used data from …
A validation of models for prediction of pathogenic variants in mismatch repair genes
Purpose Models used to predict the probability of an individual having a pathogenic
homozygous or heterozygous variant in a mismatch repair gene, such as MMRpro, are …
homozygous or heterozygous variant in a mismatch repair gene, such as MMRpro, are …
MyLynch: A Patient-Facing Clinical Decision Support Tool for Genetically-Guided Personalized Medicine in Lynch Syndrome
ST Knapp, A Revette, M Underhill-Blazey, JE Stopfer… - Cancers, 2023 - mdpi.com
Simple Summary Lynch syndrome (LS) is associated with varying cancer risks depending
on which of the five causative genes harbors a pathogenic variant; however, lifestyle and …
on which of the five causative genes harbors a pathogenic variant; however, lifestyle and …
Combining breast cancer risk prediction models
Simple Summary BRCAPRO is a widely used breast cancer risk prediction model based on
family history. A major limitation of this model is that it does not consider non-genetic risk …
family history. A major limitation of this model is that it does not consider non-genetic risk …
Predicting cancer risk based on family history
MF Jacobs - Elife, 2021 - elifesciences.org
Risk Modeling: Predicting cancer risk based on family history | eLife Skip to Content eLife logo
eLife home page Menu Home Magazine Community About Search Alerts Submit your research …
eLife home page Menu Home Magazine Community About Search Alerts Submit your research …
Statistical methods for Mendelian models with multiple genes and cancers
Risk evaluation to identify individuals who are at greater risk of cancer as a result of
heritable pathogenic variants is a valuable component of individualized clinical …
heritable pathogenic variants is a valuable component of individualized clinical …
Penetrance Estimation in Family-based Studies with the penetrance R package
Reliable methods for penetrance estimation are critical to improving clinical decision making
and risk assessment for hereditary cancer syndromes. Penetrance is defined as the …
and risk assessment for hereditary cancer syndromes. Penetrance is defined as the …
SNIP: An adaptation of sorted neighborhood methods for deduplicating pedigree data
SNIP: An adaptation of sorted neighborhood methods for deduplicating pedigree data Page
1 The Annals of Applied Statistics 2023, Vol. 17, No. 3, 2619–2638 https://doi.org/10.1214/23-AOAS1735 …
1 The Annals of Applied Statistics 2023, Vol. 17, No. 3, 2619–2638 https://doi.org/10.1214/23-AOAS1735 …