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
2017
Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens
Akbari MR, Zhang S, Cragun D, Lee JH, Coppola D, McLaughlin J, Risch HA, Rosen B, Shaw P, Sellers TA, Schildkraut J, Narod SA, Pal T. Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. Familial Cancer 2017, 16: 351-355. PMID: 28176205, DOI: 10.1007/s10689-017-9973-1.Peer-Reviewed Original ResearchConceptsOvarian cancer specimensOvarian cancerCancer specimensMicrosatellite instabilityGermline mutationsMMR mutationsMSI testingGermline MMR gene mutationsMMR genesPathogenic MMR mutationsMalignant ovarian cancerMMR gene mutationsPositive predictive valueMismatch repair genesMSI-positive cancersLynch syndromeMore microsatellite markersUnselected casesPredictive valuePatientsCancerPotential patientsGermline DNAGene mutationsWomen
2016
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
Kotsopoulos J, Sopik V, Rosen B, Fan I, McLaughlin JR, Risch H, Sun P, Narod SA, Akbari MR. Frequency of germline PALB2 mutations among women with epithelial ovarian cancer. Familial Cancer 2016, 16: 29-34. PMID: 27631815, DOI: 10.1007/s10689-016-9919-z.Peer-Reviewed Original ResearchConceptsGermline PALB2 mutationsPALB2 mutationsOvarian cancerEpithelial ovarian cancer patientsYear of diagnosisEpithelial ovarian cancerOvarian cancer patientsOvarian cancer riskMean ageCancer patientsControl subjectsNational HeartMedical recordsClinical recommendationsSurvival statusCancer riskClinical informationUnselected populationClinical relevanceBRCA2 genesGermline mutationsCancerFurther studiesPatientsPrevalence
2011
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer
Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecologic Oncology 2011, 121: 353-357. PMID: 21324516, DOI: 10.1016/j.ygyno.2011.01.020.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerOvarian cancerFirst-degree relativesMultiplex ligation-dependent probe amplificationUnselected patientsBRCA2 mutationsNon-mucinous ovarian cancerGermline mutationsCombined mutation frequencyPopulation-based seriesOvarian cancer patientsCommon adult cancersSerous ovarian cancerPrevalence of mutationsFrequency of BRCA1Mucinous carcinomaCancer patientsAdult cancersLigation-dependent probe amplificationCancerGenetic testingPatientsWomenBreastBRCA1
2003
Etiology of Pancreatic Cancer, With a Hypothesis Concerning the Role of N-Nitroso Compounds and Excess Gastric Acidity
Risch HA. Etiology of Pancreatic Cancer, With a Hypothesis Concerning the Role of N-Nitroso Compounds and Excess Gastric Acidity. Journal Of The National Cancer Institute 2003, 95: 948-960. PMID: 12837831, DOI: 10.1093/jnci/95.13.948.Peer-Reviewed Original ResearchConceptsPancreatic cancerGastric acidityRisk of nonsmokersConsumption of fruitsCurrent smokersDiabetes mellitusChronic pancreatitisCigarette smokingColorectal cancerCytokine mechanismsCancer deathDietary factorsDuodenal acidityRisk factorsEpidemiologic reviewFrequent causeHigh riskLower riskN-nitroso compoundsHelicobacter pyloriCancerGermline mutationsHost genetic variationRiskAnimal foods
2002
Histopathologic Features of Genetically Determined Ovarian Cancer
Shaw P, McLaughlin J, Zweemer R, Narod S, Risch H, Verheijen R, Ryan A, Menko F, Kenemans P, Jacobs I. Histopathologic Features of Genetically Determined Ovarian Cancer. International Journal Of Gynecological Pathology 2002, 21: 407-411. PMID: 12352190, DOI: 10.1097/00004347-200210000-00011.Peer-Reviewed Original ResearchConceptsInvasive serous carcinomasOvarian carcinomaSilverberg gradeGermline mutationsHistologic typeSerous carcinomaNuclear gradeGOG grade 3High histologic gradeBRCA1/BRCA2Serous histologyGynecologic pathologistsHistologic featuresHistopathologic featuresBRCA carriersHistologic gradeBRCA mutationsOvarian cancerArchitectural gradeBRCA2 mutationsGrade 3Germline BRCA1CarcinomaMutation statusControl group
1999
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J, Stickeler E, Kieback D, Kreienberg R, Weber B, Narod S, Runnebaum I. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. British Journal Of Cancer 1999, 81: 179-183. PMID: 10487631, PMCID: PMC2374363, DOI: 10.1038/sj.bjc.6690669.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsBRCA2 germline mutationsCancer patientsOvarian cancerP53 geneGermline mutationsCarriers of BRCA1Breast-ovarian cancer familiesRisk-modifying effectBRCA2 mutation carriersBp duplication polymorphismUnaffected female carriersRestriction fragment length polymorphismDeleterious BRCA1Healthy controlsBRCA2 mutationsMutation carriersCancer familiesPatientsFemale carriersGermline DNACancerIntronic polymorphismDuplication polymorphismMspI restriction fragment length polymorphismAccumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations.
Zweemer R, Shaw P, Verheijen R, Ryan A, Berchuck A, Ponder B, Risch H, McLaughlin J, Narod S, Menko F, Kenemans P, Jacobs I. Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. Journal Of Clinical Pathology 1999, 52: 372. PMID: 10560359, PMCID: PMC1023075, DOI: 10.1136/jcp.52.5.372.Peer-Reviewed Original ResearchConceptsOvarian cancer casesBRCA2 germline mutationsHereditary ovarian cancerOvarian cancerCancer casesP53 accumulationGermline mutationsSomatic genetic eventsInvasive ovarian cancer casesBRCA2 germline mutation carriersOvarian cancer patientsP53 proteinGermline mutation carriersGenetic eventsRole of p53Cancer patientsAntigen retrieval techniqueBRCA mutationsBRCA2 mutationsStudy groupMutation carriersP53 alterationsP53 immunohistochemistryGermline BRCA1Positive cases
1998
Hormonal Etiology of Epithelial Ovarian Cancer, With a Hypothesis Concerning the Role of Androgens and Progesterone
Risch HA. Hormonal Etiology of Epithelial Ovarian Cancer, With a Hypothesis Concerning the Role of Androgens and Progesterone. Journal Of The National Cancer Institute 1998, 90: 1774-1786. PMID: 9839517, DOI: 10.1093/jnci/90.23.1774.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerOvarian cancerIncessant ovulationOvarian epithelial cellsOvarian inclusion cystsEpithelial cellsRole of androgensGonadotropin hypothesisGonadotropin secretionGonadotropin stimulationHormonal etiologyColorectal cancerCancer deathInclusion cystsAndrogenic stimulationFrequent causeCancerGermline mutationsProgesterone stimulationHormonal stimulationOvulationStimulationAdditional major factorAndrogensProgesterone