FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W932179934> ?p ?o ?g. }

• W932179934 abstract "Breast cancer is the second most common cancer in both sexes while it is the most frequent cancer as well as the first cause of death in women. The genetic testing of hereditary cancer is part of the everyday clinic as the number of patients that is checked for germline mutation in BRCA1 and BRCA2 is continuously increasing.In order to study the contribution of the high penetrance genes BRCA1 and BRCA2 in breast cancer in Greece 200 patients with severe history of breast and/or ovarian cancer were screened. In BRCA1 13 different pathogenic mutations were found in 29 patients (14.5%) while in BRCA2 156 patients were screened (155 female and 1 male) and pathogenic mutations were identified in 8 female (5.2%) and 1 male patients (100%). At the same time, we tried to characterize the mutation spectrum of the medium penetrance gene RAD51C in Greek families. For this purpose, we screened 87 patients but no mutations was found. In addition, the identification of large genomic rearrangements in both genes took place, using three methods: diagnostic primers were used in order to identify the 4 most common BRCA1 genomic rearrangements in Greece (two deletions in exon 20, one deletion of exons 23 and 24 and one in exon 24), the QMPSF method for the BRCA1 genomic rearrangements (Quantitative Multiplex PCR of Short Fluorescent fragments) and the MLPA method for both BRCA1 and BRCA2 genomic rearrangements (Multiplex Ligation-dependent Probe Amplification). With the first technique 200 patients with breast and/or ovarian cancer were analyzed and 15 of them were found to carry one of the most frequent BRCA1 genomic rearrangements. In the contrary, no large genomic rearrangements in neither gene was identified among the 24 patients who were screened using the two latter methods (QMPSF and MLPA). Also, we have screened 403 triple negative female patients who were diagnosed with triple-negative invasive breast cancer, independently of their age or family history, for germline BRCA1 mutations in exons where a mutation have previously been found in Greek population including the genomic rearrangements. Mutation were identified in 65 patients (16%). In this study we used haplotype analysis in order to demonstrate that the BRCA1 deletion of exons 23 and 24 constitutes a Greek founder mutation. For this purpose, we performed haplotype analysis in 21 Greek families who carry this specific genomic rearrangement using the DNA Microsatellite Repeats analysis. The haplotype analysis showed that 8 out of 10 genetic regions are common among people that carry this deletion confirming that the deletion is a Greek founder mutation. We also studied the contribution of other genes in breast/ovarian cancer predisposition by studying 21 genes (BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1, ATM, BARD1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C) using next generation sequencing techniques. We examined 42 patients with severe breast and/or ovarian cancer history that were found negative for BRCA1/2 mutations. In this analysis pathogenic mutation were found in 11 patients (26.2%). At last, exome sequencing was performed in a female patient who had severe family history and was found negative for germline mutations in 21 genes (BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1, ATM, BARD1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C). The sequencing was carried out by Beijing Genomics Institute (BGI). In total, were identified 39.762 singe nucleotide polymorphisms (SNPs) and 1.646 insertions - deletions (InDels) in the patient's exome. After the result analysis we concluded in 12 variants that could constitute possible pathogenic alleles." @default.
• W932179934 created "2016-06-24" @default.
• W932179934 creator A5012791830 @default.
• W932179934 creator A5088087333 @default.
• W932179934 date "2014-06-24" @default.
• W932179934 modified "2023-09-23" @default.
• W932179934 title "Γενετική ανάλυση στον κληρονομικό καρκίνο του μαστού" @default.
• W932179934 hasPublicationYear "2014" @default.
• W932179934 type Work @default.
• W932179934 sameAs 932179934 @default.
• W932179934 citedByCount "0" @default.
• W932179934 crossrefType "dissertation" @default.
• W932179934 hasAuthorship W932179934A5012791830 @default.
• W932179934 hasAuthorship W932179934A5088087333 @default.
• W932179934 hasConcept C104317684 @default.
• W932179934 hasConcept C109825262 @default.
• W932179934 hasConcept C120599132 @default.
• W932179934 hasConcept C121608353 @default.
• W932179934 hasConcept C127716648 @default.
• W932179934 hasConcept C13514818 @default.
• W932179934 hasConcept C200544954 @default.
• W932179934 hasConcept C2777277851 @default.
• W932179934 hasConcept C2780427987 @default.
• W932179934 hasConcept C2781188995 @default.
• W932179934 hasConcept C2909462720 @default.
• W932179934 hasConcept C36823959 @default.
• W932179934 hasConcept C501734568 @default.
• W932179934 hasConcept C530470458 @default.
• W932179934 hasConcept C54355233 @default.
• W932179934 hasConcept C80227256 @default.
• W932179934 hasConcept C86803240 @default.
• W932179934 hasConceptScore W932179934C104317684 @default.
• W932179934 hasConceptScore W932179934C109825262 @default.
• W932179934 hasConceptScore W932179934C120599132 @default.
• W932179934 hasConceptScore W932179934C121608353 @default.
• W932179934 hasConceptScore W932179934C127716648 @default.
• W932179934 hasConceptScore W932179934C13514818 @default.
• W932179934 hasConceptScore W932179934C200544954 @default.
• W932179934 hasConceptScore W932179934C2777277851 @default.
• W932179934 hasConceptScore W932179934C2780427987 @default.
• W932179934 hasConceptScore W932179934C2781188995 @default.
• W932179934 hasConceptScore W932179934C2909462720 @default.
• W932179934 hasConceptScore W932179934C36823959 @default.
• W932179934 hasConceptScore W932179934C501734568 @default.
• W932179934 hasConceptScore W932179934C530470458 @default.
• W932179934 hasConceptScore W932179934C54355233 @default.
• W932179934 hasConceptScore W932179934C80227256 @default.
• W932179934 hasConceptScore W932179934C86803240 @default.
• W932179934 hasLocation W9321799341 @default.
• W932179934 hasOpenAccess W932179934 @default.
• W932179934 hasPrimaryLocation W9321799341 @default.
• W932179934 isParatext "false" @default.
• W932179934 isRetracted "false" @default.
• W932179934 magId "932179934" @default.
• W932179934 workType "dissertation" @default.