A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele

Autores
Solano, Angela Rosario; Dourisboure, Ricardo J.; Weitzel, Jeffrey; Podesta, Ernesto Jorge
Año de publicación
2002
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Sequencing an amplification product of the terminal segment of BRCA2 exon 11 showed apparent homozygosity for the 6174delT mutation in two healthy sisters. Subsequent sequencing of an alternate overlapping amplicon revealed the presence of the 5972C>T polymorphism, which is within the standard upstream amplification primer. This mismatch was responsible for the failure to amplify the normal (5972T) allele in both sisters who were heterozygous for the 6174delT mutation. Though the unexpected finding of apparent homozygosity for the 6174delT mutation prompted re-evaluation of the assay, the potential for false negative results due to masking of a mutation-bearing allele by such a circumstance should be a cautionary note for the testing and also in the interpretation of the results published under such assay conditions.
Fil: Solano, Angela Rosario. Instituto Alexander Fleming; Argentina. Universidad de Buenos Aires. Facultad de Medicina; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina
Fil: Dourisboure, Ricardo J.. Instituto Alexander Fleming; Argentina
Fil: Weitzel, Jeffrey. City of Hope Cancer Center; Estados Unidos
Fil: Podesta, Ernesto Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina
Materia
BRCA2 617DELT
BRCA2 TESTING
HEREDITARY BREAST CANCER
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/171875
Acceder
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spelling A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt alleleSolano, Angela RosarioDourisboure, Ricardo J.Weitzel, JeffreyPodesta, Ernesto JorgeBRCA2 617DELTBRCA2 TESTINGHEREDITARY BREAST CANCERhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Sequencing an amplification product of the terminal segment of BRCA2 exon 11 showed apparent homozygosity for the 6174delT mutation in two healthy sisters. Subsequent sequencing of an alternate overlapping amplicon revealed the presence of the 5972C>T polymorphism, which is within the standard upstream amplification primer. This mismatch was responsible for the failure to amplify the normal (5972T) allele in both sisters who were heterozygous for the 6174delT mutation. Though the unexpected finding of apparent homozygosity for the 6174delT mutation prompted re-evaluation of the assay, the potential for false negative results due to masking of a mutation-bearing allele by such a circumstance should be a cautionary note for the testing and also in the interpretation of the results published under such assay conditions.Fil: Solano, Angela Rosario. Instituto Alexander Fleming; Argentina. Universidad de Buenos Aires. Facultad de Medicina; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; ArgentinaFil: Dourisboure, Ricardo J.. Instituto Alexander Fleming; ArgentinaFil: Weitzel, Jeffrey. City of Hope Cancer Center; Estados UnidosFil: Podesta, Ernesto Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; ArgentinaNature Publishing Group2002-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/pdfhttp://hdl.handle.net/11336/171875Solano, Angela Rosario; Dourisboure, Ricardo J.; Weitzel, Jeffrey; Podesta, Ernesto Jorge; A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele; Nature Publishing Group; European Journal Of Human Genetics; 10; 6; 6-2002; 395-3971018-4813CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/5200821info:eu-repo/semantics/altIdentifier/doi/10.1038/sj.ejhg.5200821info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:11:17Zoai:ri.conicet.gov.ar:11336/171875instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:11:17.849CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
title A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
spellingShingle A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
Solano, Angela Rosario
BRCA2 617DELT
BRCA2 TESTING
HEREDITARY BREAST CANCER
title_short A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
title_full A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
title_fullStr A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
title_full_unstemmed A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
title_sort A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
dc.creator.none.fl_str_mv Solano, Angela Rosario
Dourisboure, Ricardo J.
Weitzel, Jeffrey
Podesta, Ernesto Jorge
author Solano, Angela Rosario
author_facet Solano, Angela Rosario
Dourisboure, Ricardo J.
Weitzel, Jeffrey
Podesta, Ernesto Jorge
author_role author
author2 Dourisboure, Ricardo J.
Weitzel, Jeffrey
Podesta, Ernesto Jorge
author2_role author
author
author
dc.subject.none.fl_str_mv BRCA2 617DELT
BRCA2 TESTING
HEREDITARY BREAST CANCER
topic BRCA2 617DELT
BRCA2 TESTING
HEREDITARY BREAST CANCER
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Sequencing an amplification product of the terminal segment of BRCA2 exon 11 showed apparent homozygosity for the 6174delT mutation in two healthy sisters. Subsequent sequencing of an alternate overlapping amplicon revealed the presence of the 5972C>T polymorphism, which is within the standard upstream amplification primer. This mismatch was responsible for the failure to amplify the normal (5972T) allele in both sisters who were heterozygous for the 6174delT mutation. Though the unexpected finding of apparent homozygosity for the 6174delT mutation prompted re-evaluation of the assay, the potential for false negative results due to masking of a mutation-bearing allele by such a circumstance should be a cautionary note for the testing and also in the interpretation of the results published under such assay conditions.
Fil: Solano, Angela Rosario. Instituto Alexander Fleming; Argentina. Universidad de Buenos Aires. Facultad de Medicina; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina
Fil: Dourisboure, Ricardo J.. Instituto Alexander Fleming; Argentina
Fil: Weitzel, Jeffrey. City of Hope Cancer Center; Estados Unidos
Fil: Podesta, Ernesto Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina
description Sequencing an amplification product of the terminal segment of BRCA2 exon 11 showed apparent homozygosity for the 6174delT mutation in two healthy sisters. Subsequent sequencing of an alternate overlapping amplicon revealed the presence of the 5972C>T polymorphism, which is within the standard upstream amplification primer. This mismatch was responsible for the failure to amplify the normal (5972T) allele in both sisters who were heterozygous for the 6174delT mutation. Though the unexpected finding of apparent homozygosity for the 6174delT mutation prompted re-evaluation of the assay, the potential for false negative results due to masking of a mutation-bearing allele by such a circumstance should be a cautionary note for the testing and also in the interpretation of the results published under such assay conditions.
publishDate 2002
dc.date.none.fl_str_mv 2002-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/171875
Solano, Angela Rosario; Dourisboure, Ricardo J.; Weitzel, Jeffrey; Podesta, Ernesto Jorge; A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele; Nature Publishing Group; European Journal Of Human Genetics; 10; 6; 6-2002; 395-397
1018-4813
CONICET Digital
CONICET
url http://hdl.handle.net/11336/171875
identifier_str_mv Solano, Angela Rosario; Dourisboure, Ricardo J.; Weitzel, Jeffrey; Podesta, Ernesto Jorge; A cautionary note: False homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele; Nature Publishing Group; European Journal Of Human Genetics; 10; 6; 6-2002; 395-397
1018-4813
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/5200821
info:eu-repo/semantics/altIdentifier/doi/10.1038/sj.ejhg.5200821
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/vnd.openxmlformats-officedocument.wordprocessingml.document
application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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