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
1999
Accumulation 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 ResearchMeSH KeywordsBRCA2 ProteinFemaleGenes, BRCA1Germ-Line MutationHumansNeoplasm ProteinsNeoplastic Syndromes, HereditaryOvarian NeoplasmsTranscription FactorsTumor Suppressor Protein p53ConceptsOvarian 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