2016
Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations
ZIAI J, MATLOFF E, CHOI J, KOMBO N, MATERIN M, BALE AE. Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genetics Research 2016, 98: e5. PMID: 26947005, PMCID: PMC6865171, DOI: 10.1017/s0016672316000021.Peer-Reviewed Original ResearchConceptsMixed polyposisExtensive genetic testingComprehensive clinical evaluationColorectal cancer phenotypeCancer phenotypeHereditary colon cancerAutosomal dominant conditionClinical evaluationAshkenazi patientsColon cancer phenotypeColon cancerJuvenile polypsJewish patientsAshkenazi Jewish familiesGenetic testingPolyposisPatientsDominant conditionColon cancer genesPrevious reportsPhenotypeCancer genesManagement recommendations
2002
Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain
Llort G, Muñoz CY, Tuser MP, Guillermo IB, Lluch JR, Bale AE, Franco MA. Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Human Mutation 2002, 19: 307-307. PMID: 11857748, DOI: 10.1002/humu.9014.Peer-Reviewed Original ResearchConceptsOvarian cancer familiesBreast/ovarian cancer familiesCancer familiesBRCA2 mutationsDifferent BRCA mutationsFounder mutationHereditary breast cancerStudies of breastSpanish breast/ovarian cancer familiesBRCA mutationsBreast cancerRecurrent BRCA1BRCA1 185delAGSubstantial proportionNovel mutationsBRCA1Previous reportsMutational spectrumBRCA2Spanish familiesEthnic groupsMutations