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
2012
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer
Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA. Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. British Journal Of Cancer 2012, 107: 1783-1790. PMID: 23047549, PMCID: PMC3493867, DOI: 10.1038/bjc.2012.452.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingCarcinoma, Ovarian EpithelialColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA-Binding ProteinsFemaleHumansMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasms, Glandular and EpithelialNuclear ProteinsOvarian NeoplasmsConceptsHereditary non-polyposis colorectal cancerPopulation-based studyEpithelial ovarian cancerOvarian cancerNon-polyposis colorectal cancerNon-serous histologyPathogenic mutation carriersMismatch repair gene mutationsGene mutationsOvarian cancer patientsHNPCC genesPopulation-based sampleRepair gene mutationsMismatch repair genesFamily history informationPathogenic missense variantsColorectal cancerMean ageCancer patientsMSH6 mutationsTreatment decisionsMutation carriersFrequency of mutationsPathogenic variantsCancer