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Somatic mutations in early onset luminal breast cancer

Breast cancer arising in very young patients may be biologically distinct; however, these tumors have been less well studied. We characterized a group of very young patients (≤ 35 years) for BRCA germline mutation and for somatic mutations in luminal (HER2 negative) breast cancer. Thirteen of 79 uns...

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Autores principales: Encinas, Giselly, Sabelnykova, Veronica Y., de Lyra, Eduardo Carneiro, Hirata Katayama, Maria Lucia, Maistro, Simone, de Vasconcellos Valle, Pedro Wilson Mompean, de Lima Pereira, Gláucia Fernanda, Rodrigues, Lívia Munhoz, de Menezes Pacheco Serio, Pedro Adolpho, de Gouvêa, Ana Carolina Ribeiro Chaves, Geyer, Felipe Correa, Basso, Ricardo Alves, Pasini, Fátima Solange, del Pilar Esteves Diz, Maria, Brentani, Maria Mitzi, Guedes Sampaio Góes, João Carlos, Chammas, Roger, Boutros, Paul C., Koike Folgueira, Maria Aparecida Azevedo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976478/
https://www.ncbi.nlm.nih.gov/pubmed/29854292
http://dx.doi.org/10.18632/oncotarget.25123
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author Encinas, Giselly
Sabelnykova, Veronica Y.
de Lyra, Eduardo Carneiro
Hirata Katayama, Maria Lucia
Maistro, Simone
de Vasconcellos Valle, Pedro Wilson Mompean
de Lima Pereira, Gláucia Fernanda
Rodrigues, Lívia Munhoz
de Menezes Pacheco Serio, Pedro Adolpho
de Gouvêa, Ana Carolina Ribeiro Chaves
Geyer, Felipe Correa
Basso, Ricardo Alves
Pasini, Fátima Solange
del Pilar Esteves Diz, Maria
Brentani, Maria Mitzi
Guedes Sampaio Góes, João Carlos
Chammas, Roger
Boutros, Paul C.
Koike Folgueira, Maria Aparecida Azevedo
author_facet Encinas, Giselly
Sabelnykova, Veronica Y.
de Lyra, Eduardo Carneiro
Hirata Katayama, Maria Lucia
Maistro, Simone
de Vasconcellos Valle, Pedro Wilson Mompean
de Lima Pereira, Gláucia Fernanda
Rodrigues, Lívia Munhoz
de Menezes Pacheco Serio, Pedro Adolpho
de Gouvêa, Ana Carolina Ribeiro Chaves
Geyer, Felipe Correa
Basso, Ricardo Alves
Pasini, Fátima Solange
del Pilar Esteves Diz, Maria
Brentani, Maria Mitzi
Guedes Sampaio Góes, João Carlos
Chammas, Roger
Boutros, Paul C.
Koike Folgueira, Maria Aparecida Azevedo
author_sort Encinas, Giselly
collection PubMed
description Breast cancer arising in very young patients may be biologically distinct; however, these tumors have been less well studied. We characterized a group of very young patients (≤ 35 years) for BRCA germline mutation and for somatic mutations in luminal (HER2 negative) breast cancer. Thirteen of 79 unselected very young patients were BRCA1/2 germline mutation carriers. Of the non-BRCA tumors, eight with luminal subtype (HER2 negative) were submitted for whole exome sequencing and integrated with 29 luminal samples from the COSMIC database or previous literature for analysis. We identified C to T single nucleotide variants (SNVs) as the most common base-change. A median of six candidate driver genes was mutated by SNVs in each sample and the most frequently mutated genes were PIK3CA, GATA3, TP53 and MAP2K4. Potential cancer drivers affected in the present non-BRCA tumors include GRHL2, PIK3AP1, CACNA1E, SEMA6D, SMURF2, RSBN1 and MTHFD2. Sixteen out of 37 luminal tumors (43%) harbored SNVs in DNA repair genes, such as ATR, BAP1, ERCC6, FANCD2, FANCL, MLH1, MUTYH, PALB2, POLD1, POLE, RAD9A, RAD51 and TP53, and 54% presented pathogenic mutations (frameshift or nonsense) in at least one gene involved in gene transcription. The differential biology of luminal early-age onset breast cancer needs a deeper genomic investigation.
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spelling pubmed-59764782018-05-31 Somatic mutations in early onset luminal breast cancer Encinas, Giselly Sabelnykova, Veronica Y. de Lyra, Eduardo Carneiro Hirata Katayama, Maria Lucia Maistro, Simone de Vasconcellos Valle, Pedro Wilson Mompean de Lima Pereira, Gláucia Fernanda Rodrigues, Lívia Munhoz de Menezes Pacheco Serio, Pedro Adolpho de Gouvêa, Ana Carolina Ribeiro Chaves Geyer, Felipe Correa Basso, Ricardo Alves Pasini, Fátima Solange del Pilar Esteves Diz, Maria Brentani, Maria Mitzi Guedes Sampaio Góes, João Carlos Chammas, Roger Boutros, Paul C. Koike Folgueira, Maria Aparecida Azevedo Oncotarget Research Paper Breast cancer arising in very young patients may be biologically distinct; however, these tumors have been less well studied. We characterized a group of very young patients (≤ 35 years) for BRCA germline mutation and for somatic mutations in luminal (HER2 negative) breast cancer. Thirteen of 79 unselected very young patients were BRCA1/2 germline mutation carriers. Of the non-BRCA tumors, eight with luminal subtype (HER2 negative) were submitted for whole exome sequencing and integrated with 29 luminal samples from the COSMIC database or previous literature for analysis. We identified C to T single nucleotide variants (SNVs) as the most common base-change. A median of six candidate driver genes was mutated by SNVs in each sample and the most frequently mutated genes were PIK3CA, GATA3, TP53 and MAP2K4. Potential cancer drivers affected in the present non-BRCA tumors include GRHL2, PIK3AP1, CACNA1E, SEMA6D, SMURF2, RSBN1 and MTHFD2. Sixteen out of 37 luminal tumors (43%) harbored SNVs in DNA repair genes, such as ATR, BAP1, ERCC6, FANCD2, FANCL, MLH1, MUTYH, PALB2, POLD1, POLE, RAD9A, RAD51 and TP53, and 54% presented pathogenic mutations (frameshift or nonsense) in at least one gene involved in gene transcription. The differential biology of luminal early-age onset breast cancer needs a deeper genomic investigation. Impact Journals LLC 2018-04-27 /pmc/articles/PMC5976478/ /pubmed/29854292 http://dx.doi.org/10.18632/oncotarget.25123 Text en Copyright: © 2018 Encinas et al. http://creativecommons.org/licenses/by/3.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) (CC-BY), which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Research Paper
Encinas, Giselly
Sabelnykova, Veronica Y.
de Lyra, Eduardo Carneiro
Hirata Katayama, Maria Lucia
Maistro, Simone
de Vasconcellos Valle, Pedro Wilson Mompean
de Lima Pereira, Gláucia Fernanda
Rodrigues, Lívia Munhoz
de Menezes Pacheco Serio, Pedro Adolpho
de Gouvêa, Ana Carolina Ribeiro Chaves
Geyer, Felipe Correa
Basso, Ricardo Alves
Pasini, Fátima Solange
del Pilar Esteves Diz, Maria
Brentani, Maria Mitzi
Guedes Sampaio Góes, João Carlos
Chammas, Roger
Boutros, Paul C.
Koike Folgueira, Maria Aparecida Azevedo
Somatic mutations in early onset luminal breast cancer
title Somatic mutations in early onset luminal breast cancer
title_full Somatic mutations in early onset luminal breast cancer
title_fullStr Somatic mutations in early onset luminal breast cancer
title_full_unstemmed Somatic mutations in early onset luminal breast cancer
title_short Somatic mutations in early onset luminal breast cancer
title_sort somatic mutations in early onset luminal breast cancer
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976478/
https://www.ncbi.nlm.nih.gov/pubmed/29854292
http://dx.doi.org/10.18632/oncotarget.25123
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