GRCh38 · COSMIC v98


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Somatic mutations in early onset luminal breast cancer.
Paper ID
Encinas G, Sabelnykova VY, de Lyra EC, Hirata Katayama ML, Maistro S, de Vasconcellos Valle PWM, de Lima Pereira GF, Rodrigues LM, de Menezes Pacheco Serio PA, de Gouvêa ACRC, Geyer FC, Basso RA, Pasini FS, Del Pilar Esteves Diz M, Brentani MM, Guedes Sampaio Góes JC, Chammas R, Boutros PC and Koike Folgueira MAA
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.
Oncotarget, 2018;9(32):22460-22479
ISSN: 1949-2553
PMID: 29854292 (view at PubMed or Europe PMC)
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 (<i>HER2</i> negative) breast cancer. Thirteen of 79 unselected very young patients were <i>BRCA</i>1/2 germline mutation carriers. Of the non-<i>BRCA</i> tumors, eight with luminal subtype (<i>HER2</i> 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 <i>PIK3CA, GATA3, TP53</i> and <i>MAP2K4</i>. Potential cancer drivers affected in the present non-<i>BRCA</i> tumors include <i>GRHL2, PIK3AP1, CACNA1E</i>, <i>SEMA6D</i>, <i>SMURF2</i>, <i>RSBN1</i> and <i>MTHFD2.</i> Sixteen out of 37 luminal tumors (43%) harbored SNVs in DNA repair genes, such as <i>ATR, BAP1, ERCC6, FANCD2, FANCL, MLH1</i>, <i>MUTYH, PALB2, POLD1, POLE</i>, <i>RAD9A, RAD51 and TP53</i>, 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.
Paper Status