2020
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
Shuch B, Li S, Risch H, Bindra RS, McGillivray PD, Gerstein M. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020, 126: 3657-3666. PMID: 32413184, PMCID: PMC10316675, DOI: 10.1002/cncr.32914.Peer-Reviewed Original ResearchConceptsFumarate hydrataseExome Aggregation ConsortiumAllele frequenciesFH geneGenome ProjectDifferent world populationsFH alterationsHereditary leiomyomatosisKidney cancer riskCancer penetranceMissense alterationsGenesOverall allele frequencyRare variantsLow penetranceRenal cancerExACKidney cancerCancer riskPenetranceGermline mutationsLethal formWorld populationCancer syndromesAlterations
2019
Current Approaches to Pancreatic Cancer Screening
Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ. Current Approaches to Pancreatic Cancer Screening. American Journal Of Pathology 2019, 189: 22-35. PMID: 30558719, DOI: 10.1016/j.ajpath.2018.09.013.BooksConceptsPancreatic ductal adenocarcinomaHigh-risk individualsRisk factorsCancer syndromesHereditary breast-ovarian cancer syndromeBreast-ovarian cancer syndromeEarly resectable stagePancreatic cancer screeningScreening strategyFamilial atypical multipleCancer-related deathOvarian cancer syndromeCurrent screening strategiesLi-Fraumeni syndromePeutz-Jeghers syndromeGenetic risk factorsResectable stageCancer screeningPancreatic cancerChronic diseasesDuctal adenocarcinomaLynch syndromePrecursor lesionsLower incidenceFamilial history
2010
A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk
Ratner E, Lu L, Boeke M, Barnett R, Nallur S, Chin LJ, Pelletier C, Blitzblau R, Tassi R, Paranjape T, Hui P, Godwin AK, Yu H, Risch H, Rutherford T, Schwartz P, Santin A, Matloff E, Zelterman D, Slack FJ, Weidhaas JB. A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk. Cancer Research 2010, 70: 6509-6515. PMID: 20647319, PMCID: PMC2923587, DOI: 10.1158/0008-5472.can-10-0689.Peer-Reviewed Original ResearchConceptsOvarian cancerKRAS-variantOC patientsCancer riskRisk of OCIndependent case-control analysesCase-control studyOvarian cancer syndromeCase-control analysisFamily membersAdvanced diseaseWomen's cancersRisk factorsBRCA2 mutationsHBOC patientsOC casesIndependent cohortHBOC familiesHereditary breastSolid tumorsCancer syndromesKRAS oncogeneVariant allelesPatientsCancer
2008
Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1
Harley I, Rosen B, Risch HA, Siminovitch K, Beiner ME, McLaughlin J, Sun P, Narod SA. Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1. Gynecologic Oncology 2008, 109: 384-387. PMID: 18405947, PMCID: PMC3060029, DOI: 10.1016/j.ygyno.2007.11.046.Peer-Reviewed Original ResearchConceptsHereditary non-polyposis colon cancer syndromeInvasive ovarian cancerOvarian cancerMLH1 genePolymorphic variantsOvarian cancer riskColon cancer syndromesMismatch repair genes MLH1Endometrial cancerClear cellsCancer riskCardinal featuresCancer syndromesCancerGenes MLH1Proportion of familiesSignificant riskSyndromeColonCommon variantsRiskEthnic groupsPredisposesHistologyVariants
2000
BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, Smotkin D, Ben-David Y, Rosenblatt J, Russo D, Schwartz P, Tung N, Warner E, Rosen B, Friedman J, Brunet J, Narod S. BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer. American Journal Of Human Genetics 2000, 66: 1259-1272. PMID: 10739756, PMCID: PMC1288193, DOI: 10.1086/302853.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBRCA2 ProteinBreast NeoplasmsDNA Mutational AnalysisFemaleFounder EffectGene FrequencyGenes, BRCA1Genetic Predisposition to DiseaseHumansIncidenceIsraelJewsMaleMiddle AgedMutationNeoplasm ProteinsNeoplasm StagingNorth AmericaOvarian NeoplasmsPedigreeTranscription FactorsConceptsFemale first-degree relativesAge 75 yearsOvarian cancerFirst-degree relativesBreast cancerAshkenazi Jewish womenHereditary breast-ovarian cancer syndromeBreast-ovarian cancer syndromeObserved excess riskFounder mutationFamilial cancer riskDetailed family historyBRCA2 mutation analysisCumulative incidenceExcess riskHealthy controlsRelative riskFamily historyMedical CenterCancer riskCancer syndromesAshkenazi Jewish populationControl populationProtein truncation testBRCA2 genes
1994
Hereditary and familial ovarian cancer in southern ontario
Narod S, Madlensky L, Tonin P, Bradley L, Rosen B, Cole D, Risch H. Hereditary and familial ovarian cancer in southern ontario. Cancer 1994, 74: 2341-2346. PMID: 7922985, DOI: 10.1002/1097-0142(19941015)74:8<2341::aid-cncr2820740819>3.0.co;2-z.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerBreast-ovarian cancer syndromeFirst-degree female relativesHereditary breast-ovarian cancerHereditary ovarian cancerPositive family historyCases of cancerPoint nine percentFamilial ovarian cancerBreast-ovarian cancerCommon hereditary formOvarian cancer familiesIncident casesCancer casesFamily historyUnselected casesCancer susceptibility genesHigh riskCancer syndromesHereditary formsCancerTelephone interviewsCancer familiesSimple questionnaire