Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact
- Autores
- Burachik, Natalia Belén; Ortiz, Ana Laura; Kordon, Edith Claudia
- Año de publicación
- 2023
- Idioma
- inglés
- Tipo de recurso
- parte de libro
- Estado
- versión publicada
- Descripción
- In the human genome, BRCA1 and BRCA2 (for BReast CAncer 1 and 2) genes encode for proteins involved in several functions that are crucial for the maintenance of genome stability and integrity. They participate in DNA damage response and repair pathways and, therefore, act as tumor suppressor genes. Mutations in these genes, which are located in chromosomes 17q21 and 13q13 respectively, are responsible for a great fraction of inherited breast and ovarian cancers, as well as other pathologies, such as Fanconi Anemia. Approximately 30 years ago, a report from a group of the School of Public Health at the University of California about a hypothetical gene that led to predisposition to early-onset breast cancer in certain families changed the history of breast cancer research, diagnosis, and prevention. Nowadays, the accessibility of genetic testing and the availability of different approaches as wide coverage screenings, prophylactic mastectomies, and risk-lowering drugs benefits BRCA1 and BRCA2 mutation carriers enormously. This chapter summarizes the unique trajectory of BRCA research and its scientific and social implications.
Fil: Burachik, Natalia Belén. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Ortiz, Ana Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina
Fil: Kordon, Edith Claudia. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina - Materia
-
BRCA1
BRCA2
BREAST CANCER
HISTORY - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/248845
Ver los metadatos del registro completo
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Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social ImpactBurachik, Natalia BelénOrtiz, Ana LauraKordon, Edith ClaudiaBRCA1BRCA2BREAST CANCERHISTORYhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3In the human genome, BRCA1 and BRCA2 (for BReast CAncer 1 and 2) genes encode for proteins involved in several functions that are crucial for the maintenance of genome stability and integrity. They participate in DNA damage response and repair pathways and, therefore, act as tumor suppressor genes. Mutations in these genes, which are located in chromosomes 17q21 and 13q13 respectively, are responsible for a great fraction of inherited breast and ovarian cancers, as well as other pathologies, such as Fanconi Anemia. Approximately 30 years ago, a report from a group of the School of Public Health at the University of California about a hypothetical gene that led to predisposition to early-onset breast cancer in certain families changed the history of breast cancer research, diagnosis, and prevention. Nowadays, the accessibility of genetic testing and the availability of different approaches as wide coverage screenings, prophylactic mastectomies, and risk-lowering drugs benefits BRCA1 and BRCA2 mutation carriers enormously. This chapter summarizes the unique trajectory of BRCA research and its scientific and social implications.Fil: Burachik, Natalia Belén. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Ortiz, Ana Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; ArgentinaFil: Kordon, Edith Claudia. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; ArgentinaIntechOpenValarmathi, Mani T.2023info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/bookParthttp://purl.org/coar/resource_type/c_3248info:ar-repo/semantics/parteDeLibroapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/248845Burachik, Natalia Belén; Ortiz, Ana Laura; Kordon, Edith Claudia; Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact; IntechOpen; 2023; 1-14978-1-80356-807-2CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.intechopen.com/chapters/84767info:eu-repo/semantics/altIdentifier/doi/10.5772/intechopen.108648info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:52:31Zoai:ri.conicet.gov.ar:11336/248845instacron: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 09:52:32.065CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact |
title |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact |
spellingShingle |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact Burachik, Natalia Belén BRCA1 BRCA2 BREAST CANCER HISTORY |
title_short |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact |
title_full |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact |
title_fullStr |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact |
title_full_unstemmed |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact |
title_sort |
Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact |
dc.creator.none.fl_str_mv |
Burachik, Natalia Belén Ortiz, Ana Laura Kordon, Edith Claudia |
author |
Burachik, Natalia Belén |
author_facet |
Burachik, Natalia Belén Ortiz, Ana Laura Kordon, Edith Claudia |
author_role |
author |
author2 |
Ortiz, Ana Laura Kordon, Edith Claudia |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
Valarmathi, Mani T. |
dc.subject.none.fl_str_mv |
BRCA1 BRCA2 BREAST CANCER HISTORY |
topic |
BRCA1 BRCA2 BREAST CANCER HISTORY |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
In the human genome, BRCA1 and BRCA2 (for BReast CAncer 1 and 2) genes encode for proteins involved in several functions that are crucial for the maintenance of genome stability and integrity. They participate in DNA damage response and repair pathways and, therefore, act as tumor suppressor genes. Mutations in these genes, which are located in chromosomes 17q21 and 13q13 respectively, are responsible for a great fraction of inherited breast and ovarian cancers, as well as other pathologies, such as Fanconi Anemia. Approximately 30 years ago, a report from a group of the School of Public Health at the University of California about a hypothetical gene that led to predisposition to early-onset breast cancer in certain families changed the history of breast cancer research, diagnosis, and prevention. Nowadays, the accessibility of genetic testing and the availability of different approaches as wide coverage screenings, prophylactic mastectomies, and risk-lowering drugs benefits BRCA1 and BRCA2 mutation carriers enormously. This chapter summarizes the unique trajectory of BRCA research and its scientific and social implications. Fil: Burachik, Natalia Belén. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Ortiz, Ana Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina Fil: Kordon, Edith Claudia. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina |
description |
In the human genome, BRCA1 and BRCA2 (for BReast CAncer 1 and 2) genes encode for proteins involved in several functions that are crucial for the maintenance of genome stability and integrity. They participate in DNA damage response and repair pathways and, therefore, act as tumor suppressor genes. Mutations in these genes, which are located in chromosomes 17q21 and 13q13 respectively, are responsible for a great fraction of inherited breast and ovarian cancers, as well as other pathologies, such as Fanconi Anemia. Approximately 30 years ago, a report from a group of the School of Public Health at the University of California about a hypothetical gene that led to predisposition to early-onset breast cancer in certain families changed the history of breast cancer research, diagnosis, and prevention. Nowadays, the accessibility of genetic testing and the availability of different approaches as wide coverage screenings, prophylactic mastectomies, and risk-lowering drugs benefits BRCA1 and BRCA2 mutation carriers enormously. This chapter summarizes the unique trajectory of BRCA research and its scientific and social implications. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/bookPart http://purl.org/coar/resource_type/c_3248 info:ar-repo/semantics/parteDeLibro |
status_str |
publishedVersion |
format |
bookPart |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/248845 Burachik, Natalia Belén; Ortiz, Ana Laura; Kordon, Edith Claudia; Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact; IntechOpen; 2023; 1-14 978-1-80356-807-2 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/248845 |
identifier_str_mv |
Burachik, Natalia Belén; Ortiz, Ana Laura; Kordon, Edith Claudia; Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact; IntechOpen; 2023; 1-14 978-1-80356-807-2 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.intechopen.com/chapters/84767 info:eu-repo/semantics/altIdentifier/doi/10.5772/intechopen.108648 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
IntechOpen |
publisher.none.fl_str_mv |
IntechOpen |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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