Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912882371> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W2912882371 abstract "Background: Pre-implantation Genetic Diagnosis (PGD) has recently been introduced as a reproductive choice for individuals who carry a disease-causing BRCA1/2 mutation. Since this technology has not yet been launched for patients at the Cancer Institute of Imam Khomeini Hospital harboring gene mutations that predispose patients to breast cancer, this study aimed to introduce a PGD-based model using a single cell lymphocyte instead of an embryonic blastomere. Methods: Two affected and unrelated women with a known mutation in BRCA1/2 were enrolled in this study. Each patient (together with her siblings) was considered as an embryo derived from a hypothetical couple. Blood samples were collected from these individuals as well as their parents. Linkage analysis was performed. Following this process, a mutation-free individual and a mutation carrier was selected from the first and second family, respectively. A single lymphocyte was then extracted from their freshly taken peripheral blood, and afterwards Nested Multiplex PCR was performed. Results: PGD confirmed that the individual from the first family is free of a mutation and the second one is a pathogenic mutation carrier. Conclusion: Our results suggested that PGD is a viable choice to offer to families with Hereditary Breast Cancer Syndrome, who have been diagnosed with a known pathogenic mutation. Our introduced model can be used as a possible option by other laboratories that are planning to launch this technology." @default.
- W2912882371 created "2019-02-21" @default.
- W2912882371 creator A5028207386 @default.
- W2912882371 creator A5032148483 @default.
- W2912882371 creator A5032535931 @default.
- W2912882371 creator A5044282308 @default.
- W2912882371 creator A5045417966 @default.
- W2912882371 creator A5045705559 @default.
- W2912882371 creator A5056519280 @default.
- W2912882371 creator A5086132873 @default.
- W2912882371 date "2019-10-26" @default.
- W2912882371 modified "2023-10-16" @default.
- W2912882371 title "A Proposed Model to Establish the PGD Technique for Carriers of BRCA1/2 Gene Mutations in a Diagnostic Laboratory" @default.
- W2912882371 doi "https://doi.org/10.18502/bccr.v11i1.1647" @default.
- W2912882371 hasPublicationYear "2019" @default.
- W2912882371 type Work @default.
- W2912882371 sameAs 2912882371 @default.
- W2912882371 citedByCount "0" @default.
- W2912882371 crossrefType "journal-article" @default.
- W2912882371 hasAuthorship W2912882371A5028207386 @default.
- W2912882371 hasAuthorship W2912882371A5032148483 @default.
- W2912882371 hasAuthorship W2912882371A5032535931 @default.
- W2912882371 hasAuthorship W2912882371A5044282308 @default.
- W2912882371 hasAuthorship W2912882371A5045417966 @default.
- W2912882371 hasAuthorship W2912882371A5045705559 @default.
- W2912882371 hasAuthorship W2912882371A5056519280 @default.
- W2912882371 hasAuthorship W2912882371A5086132873 @default.
- W2912882371 hasBestOaLocation W29128823711 @default.
- W2912882371 hasConcept C104317684 @default.
- W2912882371 hasConcept C121608353 @default.
- W2912882371 hasConcept C126322002 @default.
- W2912882371 hasConcept C196843134 @default.
- W2912882371 hasConcept C203014093 @default.
- W2912882371 hasConcept C2778805741 @default.
- W2912882371 hasConcept C2779134260 @default.
- W2912882371 hasConcept C2781188995 @default.
- W2912882371 hasConcept C501734568 @default.
- W2912882371 hasConcept C54355233 @default.
- W2912882371 hasConcept C71924100 @default.
- W2912882371 hasConcept C86803240 @default.
- W2912882371 hasConceptScore W2912882371C104317684 @default.
- W2912882371 hasConceptScore W2912882371C121608353 @default.
- W2912882371 hasConceptScore W2912882371C126322002 @default.
- W2912882371 hasConceptScore W2912882371C196843134 @default.
- W2912882371 hasConceptScore W2912882371C203014093 @default.
- W2912882371 hasConceptScore W2912882371C2778805741 @default.
- W2912882371 hasConceptScore W2912882371C2779134260 @default.
- W2912882371 hasConceptScore W2912882371C2781188995 @default.
- W2912882371 hasConceptScore W2912882371C501734568 @default.
- W2912882371 hasConceptScore W2912882371C54355233 @default.
- W2912882371 hasConceptScore W2912882371C71924100 @default.
- W2912882371 hasConceptScore W2912882371C86803240 @default.
- W2912882371 hasLocation W29128823711 @default.
- W2912882371 hasOpenAccess W2912882371 @default.
- W2912882371 hasPrimaryLocation W29128823711 @default.
- W2912882371 hasRelatedWork W1535166020 @default.
- W2912882371 hasRelatedWork W1562693820 @default.
- W2912882371 hasRelatedWork W1895018249 @default.
- W2912882371 hasRelatedWork W2068588654 @default.
- W2912882371 hasRelatedWork W2082482010 @default.
- W2912882371 hasRelatedWork W2109451199 @default.
- W2912882371 hasRelatedWork W2135257384 @default.
- W2912882371 hasRelatedWork W2384774992 @default.
- W2912882371 hasRelatedWork W4315629143 @default.
- W2912882371 hasRelatedWork W631795973 @default.
- W2912882371 isParatext "false" @default.
- W2912882371 isRetracted "false" @default.
- W2912882371 magId "2912882371" @default.
- W2912882371 workType "article" @default.