0000000000235081

AUTHOR

Olga Sinicka

showing 2 related works from this author

BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia

2013

Abstract Purpose In this report, we summarise data on BRCA1 gene analysis in Latvia to characterise criteria of genetic testing for breast and ovarian cancer susceptibility. Material/methods Analysis by SSCP/HD, MALDI-TOF mass spectrometry or DNA sequencing was used for mutation detection. Mutations identified were confirmed by direct DNA sequencing. Results Out of 1068 breast and 231 ovarian cancer patients from different families: 58 carried the c.5266dupC and 43 carried the c.4035delA mutations. Every 4th patient in our study did not report cancer in the family. The breast cancer was diagnosed earlier in carriers of the c.5266dupC than in carriers of the c.4035delA ( p  = 0.003). The inc…

AdultOncologymedicine.medical_specialtyBreast NeoplasmsDiseasemedicine.disease_causePolymerase Chain ReactionBreast cancerInternal medicinemedicineHumansGenetic Predisposition to DiseaseFamily historyskin and connective tissue diseasesPolymorphism Single-Stranded ConformationalAgedGenetic testingAged 80 and overOvarian NeoplasmsMutationmedicine.diagnostic_testBRCA1 Proteinbusiness.industryCancerSingle-strand conformation polymorphismDNA NeoplasmGeneral MedicineMiddle AgedPrognosismedicine.diseaseLatviaMutationFemalebusinessOvarian cancerFollow-Up StudiesAdvances in Medical Sciences
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Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia

1999

Germ-line mutations of the BRCA1 gene account for approximately half of the cases of hereditary breast/ovarian cancers. We have screened index patients from 15 breast cancer families and 8 sporadic breast cancer patients from Latvia for mutations in all coding exons of the BRCA1 gene, using combined Heteroduplex Analysis/SSCP followed by direct sequencing of the variants. BRCA1 germ-line mutations proved to be frequent in Latvian breast cancer patients, also in moderate-risk families and sporadic patients. Out of 23 cases a total of 8 patients (35%) exhibited three different mutations (5382insC, C61G, 4153delA). Interestingly, these three recurrent mutations accounted for all mutations in o…

OncologyGeneticsmedicine.medical_specialtyMutationDirect sequencingSingle-strand conformation polymorphismBiologymedicine.diseasemedicine.disease_causeExonBreast cancerInternal medicineGeneticsmedicineGenetics (clinical)Brca1 geneFounder effectHeteroduplexHuman Mutation
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