BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina

Autores
Solano, Angela Rosario; Liria, Natalia C.; Jalil, Fernanda; Faggionato, Daniela; Mele, Pablo Gustavo; Mampel, Alejandra; Cardoso, Florencia C.; Podesta, Ernesto Jorge
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
In Ashkenazi Jewish (AJ) high risk families 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2 (c.5946del)] account for the majority of high risk breast and ovarian cancer cases in that ethnic group. Few studies with limited number of genotyped individuals have expanded the spectrum of mutations in both BRCA genes beyond the 3 mutation panel. In this study, 279 high risk individual AJ were counseled at CEMIC (Centro de Educación Médica e Investigaciones Clínicas), and were genotyped first for the 3 recurrent mutation panel followed by Next Generation Sequencing (NGS) of BRCA1 BRCA2 in 76 individuals who tested negative for the first genotyping step. Of 279 probands (259 women), 55 (50 women) harbored one of the 3 mutations (19.7%); Of 76 fully sequenced cases (73 women), 6 (5 women) (7.9%) carried a pathogenic mutation: in BRCA1, c.2728C > T - p.(Gln910*); c.5407-?_(*1_?)del and c.5445G > A - p.(Trp1815*); in BRCA2, c.5351dup - p.(Asn1784Lysfs*3); c.7308del - p.(Asn2436Lysfs*33) and c.9026_9030del - p.(Tyr3009Serfs*7). Of 61 mutation carriers the distribution was as follows: 11 cancer free at the time of genotyping, 34 female breast cancer cases with age range 28-72 years (41.6 ± 9.3), 3 male breast cancer cases with age range 59-75 years (65 ± 7.3), 6 breast and ovarian cancer cases with age range 35-60 years (breast 40.4 ± 5.2; ovary 47.8 ± 7.2) and 7 ovarian cancer cases with age range 41-77 years (60.6 ± 13.3). This information proved highly useful for counseling, treatment, and prevention for the patient and the family. In conclusion comprehensive BRCA1/2 testing in AJ high risk breast ovarian cancer cases adds valuable clinically relevant information in a subset of cases estimated up to 7% and is therefore recommended.
Fil: Solano, Angela Rosario. 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. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Liria, Natalia C.. Centro de Educación Medica E Invest.clinicas; Argentina
Fil: Jalil, Fernanda. Centro de Educación Medica E Invest.clinicas; Argentina
Fil: Faggionato, Daniela. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Mele, Pablo G.. 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: Mampel, Alejandra. Universidad Nacional de Cuyo; Argentina
Fil: Cardoso, Florencia C.. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Podesta, Ernesto J.. 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
ASHKENAZI JEWISH
BRCA1
BRCA2
HEREDITARY BREAST AND OVARY CANCER
NON-FOUNDER ASHKENAZI BRCA1/2 MUTATIONS
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:11336/93843
Acceder
id CONICETDig_266b55079a0a67801871f2599cdbbb45
oai_identifier_str oai:ri.conicet.gov.ar:11336/93843
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of ArgentinaSolano, Angela RosarioLiria, Natalia C.Jalil, FernandaFaggionato, DanielaMele, Pablo GustavoMampel, AlejandraCardoso, Florencia C.Podesta, Ernesto JorgeASHKENAZI JEWISHBRCA1BRCA2HEREDITARY BREAST AND OVARY CANCERNON-FOUNDER ASHKENAZI BRCA1/2 MUTATIONShttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1In Ashkenazi Jewish (AJ) high risk families 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2 (c.5946del)] account for the majority of high risk breast and ovarian cancer cases in that ethnic group. Few studies with limited number of genotyped individuals have expanded the spectrum of mutations in both BRCA genes beyond the 3 mutation panel. In this study, 279 high risk individual AJ were counseled at CEMIC (Centro de Educación Médica e Investigaciones Clínicas), and were genotyped first for the 3 recurrent mutation panel followed by Next Generation Sequencing (NGS) of BRCA1 BRCA2 in 76 individuals who tested negative for the first genotyping step. Of 279 probands (259 women), 55 (50 women) harbored one of the 3 mutations (19.7%); Of 76 fully sequenced cases (73 women), 6 (5 women) (7.9%) carried a pathogenic mutation: in BRCA1, c.2728C > T - p.(Gln910*); c.5407-?_(*1_?)del and c.5445G > A - p.(Trp1815*); in BRCA2, c.5351dup - p.(Asn1784Lysfs*3); c.7308del - p.(Asn2436Lysfs*33) and c.9026_9030del - p.(Tyr3009Serfs*7). Of 61 mutation carriers the distribution was as follows: 11 cancer free at the time of genotyping, 34 female breast cancer cases with age range 28-72 years (41.6 ± 9.3), 3 male breast cancer cases with age range 59-75 years (65 ± 7.3), 6 breast and ovarian cancer cases with age range 35-60 years (breast 40.4 ± 5.2; ovary 47.8 ± 7.2) and 7 ovarian cancer cases with age range 41-77 years (60.6 ± 13.3). This information proved highly useful for counseling, treatment, and prevention for the patient and the family. In conclusion comprehensive BRCA1/2 testing in AJ high risk breast ovarian cancer cases adds valuable clinically relevant information in a subset of cases estimated up to 7% and is therefore recommended.Fil: Solano, Angela Rosario. 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. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Liria, Natalia C.. Centro de Educación Medica E Invest.clinicas; ArgentinaFil: Jalil, Fernanda. Centro de Educación Medica E Invest.clinicas; ArgentinaFil: Faggionato, Daniela. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Mele, Pablo G.. 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: Mampel, Alejandra. Universidad Nacional de Cuyo; ArgentinaFil: Cardoso, Florencia C.. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Podesta, Ernesto J.. 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; ArgentinaFrontiers Media SA2018-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/93843Solano, Angela Rosario; Liria, Natalia C.; Jalil, Fernanda; Faggionato, Daniela; Mele, Pablo Gustavo; et al.; BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina; Frontiers Media SA; Frontiers in Oncology; 8; 323; 8-2018; 1-72234-943X2234-943XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.3389/fonc.2018.00323info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fonc.2018.00323/fullinfo:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113569/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:44:51Zoai:ri.conicet.gov.ar:11336/93843instacron: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 09:44:52.037CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
title BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
spellingShingle BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
Solano, Angela Rosario
ASHKENAZI JEWISH
BRCA1
BRCA2
HEREDITARY BREAST AND OVARY CANCER
NON-FOUNDER ASHKENAZI BRCA1/2 MUTATIONS
title_short BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
title_full BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
title_fullStr BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
title_full_unstemmed BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
title_sort BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
dc.creator.none.fl_str_mv Solano, Angela Rosario
Liria, Natalia C.
Jalil, Fernanda
Faggionato, Daniela
Mele, Pablo Gustavo
Mampel, Alejandra
Cardoso, Florencia C.
Podesta, Ernesto Jorge
author Solano, Angela Rosario
author_facet Solano, Angela Rosario
Liria, Natalia C.
Jalil, Fernanda
Faggionato, Daniela
Mele, Pablo Gustavo
Mampel, Alejandra
Cardoso, Florencia C.
Podesta, Ernesto Jorge
author_role author
author2 Liria, Natalia C.
Jalil, Fernanda
Faggionato, Daniela
Mele, Pablo Gustavo
Mampel, Alejandra
Cardoso, Florencia C.
Podesta, Ernesto Jorge
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv ASHKENAZI JEWISH
BRCA1
BRCA2
HEREDITARY BREAST AND OVARY CANCER
NON-FOUNDER ASHKENAZI BRCA1/2 MUTATIONS
topic ASHKENAZI JEWISH
BRCA1
BRCA2
HEREDITARY BREAST AND OVARY CANCER
NON-FOUNDER ASHKENAZI BRCA1/2 MUTATIONS
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv In Ashkenazi Jewish (AJ) high risk families 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2 (c.5946del)] account for the majority of high risk breast and ovarian cancer cases in that ethnic group. Few studies with limited number of genotyped individuals have expanded the spectrum of mutations in both BRCA genes beyond the 3 mutation panel. In this study, 279 high risk individual AJ were counseled at CEMIC (Centro de Educación Médica e Investigaciones Clínicas), and were genotyped first for the 3 recurrent mutation panel followed by Next Generation Sequencing (NGS) of BRCA1 BRCA2 in 76 individuals who tested negative for the first genotyping step. Of 279 probands (259 women), 55 (50 women) harbored one of the 3 mutations (19.7%); Of 76 fully sequenced cases (73 women), 6 (5 women) (7.9%) carried a pathogenic mutation: in BRCA1, c.2728C > T - p.(Gln910*); c.5407-?_(*1_?)del and c.5445G > A - p.(Trp1815*); in BRCA2, c.5351dup - p.(Asn1784Lysfs*3); c.7308del - p.(Asn2436Lysfs*33) and c.9026_9030del - p.(Tyr3009Serfs*7). Of 61 mutation carriers the distribution was as follows: 11 cancer free at the time of genotyping, 34 female breast cancer cases with age range 28-72 years (41.6 ± 9.3), 3 male breast cancer cases with age range 59-75 years (65 ± 7.3), 6 breast and ovarian cancer cases with age range 35-60 years (breast 40.4 ± 5.2; ovary 47.8 ± 7.2) and 7 ovarian cancer cases with age range 41-77 years (60.6 ± 13.3). This information proved highly useful for counseling, treatment, and prevention for the patient and the family. In conclusion comprehensive BRCA1/2 testing in AJ high risk breast ovarian cancer cases adds valuable clinically relevant information in a subset of cases estimated up to 7% and is therefore recommended.
Fil: Solano, Angela Rosario. 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. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Liria, Natalia C.. Centro de Educación Medica E Invest.clinicas; Argentina
Fil: Jalil, Fernanda. Centro de Educación Medica E Invest.clinicas; Argentina
Fil: Faggionato, Daniela. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Mele, Pablo G.. 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: Mampel, Alejandra. Universidad Nacional de Cuyo; Argentina
Fil: Cardoso, Florencia C.. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Podesta, Ernesto J.. 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 In Ashkenazi Jewish (AJ) high risk families 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2 (c.5946del)] account for the majority of high risk breast and ovarian cancer cases in that ethnic group. Few studies with limited number of genotyped individuals have expanded the spectrum of mutations in both BRCA genes beyond the 3 mutation panel. In this study, 279 high risk individual AJ were counseled at CEMIC (Centro de Educación Médica e Investigaciones Clínicas), and were genotyped first for the 3 recurrent mutation panel followed by Next Generation Sequencing (NGS) of BRCA1 BRCA2 in 76 individuals who tested negative for the first genotyping step. Of 279 probands (259 women), 55 (50 women) harbored one of the 3 mutations (19.7%); Of 76 fully sequenced cases (73 women), 6 (5 women) (7.9%) carried a pathogenic mutation: in BRCA1, c.2728C > T - p.(Gln910*); c.5407-?_(*1_?)del and c.5445G > A - p.(Trp1815*); in BRCA2, c.5351dup - p.(Asn1784Lysfs*3); c.7308del - p.(Asn2436Lysfs*33) and c.9026_9030del - p.(Tyr3009Serfs*7). Of 61 mutation carriers the distribution was as follows: 11 cancer free at the time of genotyping, 34 female breast cancer cases with age range 28-72 years (41.6 ± 9.3), 3 male breast cancer cases with age range 59-75 years (65 ± 7.3), 6 breast and ovarian cancer cases with age range 35-60 years (breast 40.4 ± 5.2; ovary 47.8 ± 7.2) and 7 ovarian cancer cases with age range 41-77 years (60.6 ± 13.3). This information proved highly useful for counseling, treatment, and prevention for the patient and the family. In conclusion comprehensive BRCA1/2 testing in AJ high risk breast ovarian cancer cases adds valuable clinically relevant information in a subset of cases estimated up to 7% and is therefore recommended.
publishDate 2018
dc.date.none.fl_str_mv 2018-08
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/11336/93843
Solano, Angela Rosario; Liria, Natalia C.; Jalil, Fernanda; Faggionato, Daniela; Mele, Pablo Gustavo; et al.; BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina; Frontiers Media SA; Frontiers in Oncology; 8; 323; 8-2018; 1-7
2234-943X
2234-943X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/93843
identifier_str_mv Solano, Angela Rosario; Liria, Natalia C.; Jalil, Fernanda; Faggionato, Daniela; Mele, Pablo Gustavo; et al.; BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina; Frontiers Media SA; Frontiers in Oncology; 8; 323; 8-2018; 1-7
2234-943X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.3389/fonc.2018.00323
info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fonc.2018.00323/full
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113569/
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/pdf
dc.publisher.none.fl_str_mv Frontiers Media SA
publisher.none.fl_str_mv Frontiers Media SA
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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