2010
A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome
Boonstra P, Gruber S, Raymond V, Huang S, Timshel S, Nilbert M, Mukherjee B. A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome. Genetic Epidemiology 2010, 34: 756-768. PMID: 20878717, PMCID: PMC3894615, DOI: 10.1002/gepi.20534.Peer-Reviewed Original ResearchConceptsAffected parent-child pairsDanish HNPCC registerParent-child pairsLynch syndromePaired t-testGenetic anticipationLynch syndrome cohortCancer genetics clinicsT-testEvidence of genetic anticipationFamily membersClinic-based populationRandom-effects modelGenetics clinicAffected pairsMismatch repairUnaffected family membersFamilial correlationsAffected parentType I errorSyndrome cohortRegression modelsPedigree dataDecreasing ageAscertainment
2009
Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome
Stoffel E, Mukherjee B, Raymond V, Tayob N, Kastrinos F, Sparr J, Wang F, Bandipalliam P, Syngal S, Gruber S. Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome. Gastroenterology 2009, 137: 1621-1627. PMID: 19622357, PMCID: PMC2767441, DOI: 10.1053/j.gastro.2009.07.039.Peer-Reviewed Original ResearchConceptsRisk of colorectal cancerCumulative risk of colorectal cancerHazard ratioColorectal cancerCumulative riskLifetime risk of colorectal cancerMismatch repair gene mutation carriersEstimates of colorectal cancerAge-specific cumulative riskMismatch repair gene mutationsEstimates of lifetime riskCancer genetics clinicsCases of colorectal cancerModified segregation analysisRisk of colorectalColorectal cancer riskHereditary colorectal cancerEndometrial cancerGene mutation carriersRepair gene mutationsRisk of ECOverestimation of penetrationFirst-degree relativesLynch syndromeCancer surveillance