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Somatic mutations in early onset luminal breast cancer. 2018
Giselly Encinas, and
Veronica Y Sabelnykova, and
Eduardo Carneiro de Lyra, and
Maria Lucia Hirata Katayama, and
Simone Maistro, and
Pedro Wilson Mompean de Vasconcellos Valle, and
Gláucia Fernanda de Lima Pereira, and
Lívia Munhoz Rodrigues, and
Pedro Adolpho de Menezes Pacheco Serio, and
Ana Carolina Ribeiro Chaves de Gouvêa, and
Felipe Correa Geyer, and
Ricardo Alves Basso, and
Fátima Solange Pasini, and
Maria Del Pilar Esteves Diz, and
Maria Mitzi Brentani, and
João Carlos Guedes Sampaio Góes, and
Roger Chammas, and
Paul C Boutros, and
Maria Aparecida Azevedo Koike Folgueira
Instituto do Cancer do Estado de Sao Paulo, Departamento de Radiologia e Oncologia, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
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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