A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report

Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breas...

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Autores principales: SALGADO, JOSEFA, SANTISTEBAN, MARTA, GUTIÉRREZ, CRISTINA, GIL, CARMEN, ROBLES, MAITANE, VIEDMA, ADRIANA, PATIÑO-GARCÍA, ANA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2013
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788828/
https://www.ncbi.nlm.nih.gov/pubmed/24137399
http://dx.doi.org/10.3892/ol.2013.1440
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author SALGADO, JOSEFA
SANTISTEBAN, MARTA
GUTIÉRREZ, CRISTINA
GIL, CARMEN
ROBLES, MAITANE
VIEDMA, ADRIANA
PATIÑO-GARCÍA, ANA
author_facet SALGADO, JOSEFA
SANTISTEBAN, MARTA
GUTIÉRREZ, CRISTINA
GIL, CARMEN
ROBLES, MAITANE
VIEDMA, ADRIANA
PATIÑO-GARCÍA, ANA
author_sort SALGADO, JOSEFA
collection PubMed
description Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature.
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spelling pubmed-37888282013-10-17 A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report SALGADO, JOSEFA SANTISTEBAN, MARTA GUTIÉRREZ, CRISTINA GIL, CARMEN ROBLES, MAITANE VIEDMA, ADRIANA PATIÑO-GARCÍA, ANA Oncol Lett Articles Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature. D.A. Spandidos 2013-09 2013-07-03 /pmc/articles/PMC3788828/ /pubmed/24137399 http://dx.doi.org/10.3892/ol.2013.1440 Text en Copyright © 2013, Spandidos Publications http://creativecommons.org/licenses/by/3.0 This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.
spellingShingle Articles
SALGADO, JOSEFA
SANTISTEBAN, MARTA
GUTIÉRREZ, CRISTINA
GIL, CARMEN
ROBLES, MAITANE
VIEDMA, ADRIANA
PATIÑO-GARCÍA, ANA
A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report
title A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report
title_full A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report
title_fullStr A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report
title_full_unstemmed A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report
title_short A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report
title_sort novel brca1 mutation in a patient with breast and ovarian cancer: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788828/
https://www.ncbi.nlm.nih.gov/pubmed/24137399
http://dx.doi.org/10.3892/ol.2013.1440
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