@article{fdi:010063661,
  title = {{A} peculiar mutation spectrum emerging from young {P}eruvian patients with hepatocellular carcinoma},
  author = {{M}archio, {A}. and {B}ertani, {S}t{\'e}phane and {R}ojas, {T}. {R}. and {D}oimi, {F}. and {T}erris, {B}. and {D}eharo, {E}ric and {D}ejean, {A}. and {R}uiz, {E}. and {P}ineau, {P}.},
  editor = {},
  language = {{ENG}},
  abstract = {{H}epatocellular carcinoma usually afflicts individuals in their later years following longstanding liver disease. {I}n {P}eru, hepatocellular carcinoma exists in a unique clinical presentation, which affects patients around age 25 with a normal, healthy liver. {I}n order to deepen our understanding of the molecular processes ongoing in {P}eruvian liver tumors, mutation spectrum analysis was carried out on hepatocellular carcinomas from 80 {P}eruvian patients. {S}equencing analysis focused on nine genes typically altered during liver carcinogenesis, i.e. {ARID}2, {AXIN}1, {BRAF}, {CTNNB}1, {NFE}2{L}2, {H}/{K}/{N}-{RAS}, and {TP}53. {W}e also assessed the transcription level of factors involved in the control of the alpha-fetoprotein expression and the {H}ippo signaling pathway that controls contact inhibition in metazoans. {T}he mutation spectrum of {P}eruvian patients was unique with a major class of alterations represented by {I}nsertions/{D}eletions. {T}here were no changes at hepatocellular carcinoma-associated mutation hotspots in more than half of the specimens analyzed. {F}urthermore, our findings support the theory of a consistent collapse in the {H}ippo axis, as well as an expression of the stemness factor {NANOG} in high alpha-fetoprotein-expressing hepatocellular carcinomas. {T}hese results confirm the specificity of {P}eruvian hepatocellular carcinoma at the molecular genetic level. {T}he present study emphasizes the necessity to widen cancer research to include historically neglected patients from {S}outh {A}merica, and more broadly the {G}lobal {S}outh, where cancer genetics and tumor presentation are divergent from canonical neoplasms.},
  keywords = {{PEROU}},
  booktitle = {},
  journal = {{P}los {O}ne},
  volume = {9},
  numero = {12},
  pages = {e114912 [24 ]},
  ISSN = {1932-6203},
  year = {2014},
  DOI = {10.1371/journal.pone.0114912},
  URL = {https://www.documentation.ird.fr/hor/fdi:010063661},
}