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Most relevant • iles MM. et al. GenoMel consortiuM; Q-MEGA and AMFS Investigators. A variant
in FTO shows association with melanoma risk not due to BMI. Nat Genet. 2013
scientific
Apr;45(4):428-32, 432e1. IF: 35.209.
articles
• PuiG-butille Ja, escáMez MJ, García-García F, tell-Marti G, Fabra a, Martínez-santaMaría
l, b c, a P, P M, d J, d r M, P s. Capturing the biological
adenasGuileraeVidaoPazoelíouiG
impact of CDKN2A and MC1R genes as an early predisposing event in melanoma
and non melanoma skin cancer. Oncotarget. 2013 Dec 16. [Epub ahead of print] IF:

6.636.

• silVa F, rodríGuez-reVenGa l, MadriGal i, alVarez-Mora Mi, oliVa r, Milà M. High apolipo-
protein E4 allele frequency in FXTAS patients. Genet Med. 2013 Aug;15(8):639-42.

IF: 5.56.

• brea-Fernández a, caMeselle-teiJeiro J, alenda c, Fernández-rozadilla c, cubiella J, cloFent

J, reñé J, anido u, Milá M, balaGuer F, castells a, castellVi-bel s, JoVer r, carracedo a,
ruiz-Ponte c. High incidence of large deletions in the PMS2 gene in Spanish Lynch

syndrome families. Clin Genet. 2013 Jul 9. doi: 10.1111/cge.12232. [Epub ahead of
print] IF: 4.247.

• a-M Mi, r-r l, M i, t-s F, M-h e, l-
lVarezoraodríGuezeVenGaadriGalorresilVaateuuertasi
zano e, Friedländer Mr, Martí e, estiVill X, Milà M. MicroRNA expression profiling in
blood from fragile X-associated tremor/ataxia syndrome patients. Genes Brain Be-

hav. 2013 Aug;12(6):595-603. IF: 3.597.

During 2013, the group has published 26 original articles related to: FMR1 premuta-
Highlights
tion associated pathologies, intellectual disabilities, genetics basis of familial melano-
ma and other genodermatosis; it has also been published Fragile-X Syndrome clinical

guidelines (“Clinical guideline of gene FMR1-associated diseases: fragile X syndro-
me, primary ovarian insufficiency and tremor-ataxia syndrome.”). By other hand, the

group has organized 2 international meetings:

• European Organization for Research and Treatment of Cancer- EORTC (Palma de
Mallorca, 12-14th September 2013)

Intellectual Disabilities: diagnostic challenges in array CGH and next generation
•
sequencing studies (Barcelona, 3-4th October 2013)

The group has obtained 5 competitive projects:

• “DIAGNOPTICS— Diagnosis of skin cancer using optics”(CIP-ICT-PSP-2013-7;

COMPETITIVENESS AND INNOVATION FRAMEWORK PROGRAMME(CIP).

• “Study of the oxidative stress pathway and mitochondrial dysfunction in FXTAS
patients. Searching for a specific biomarker that allows presymptomatic diagnosis

and prognosis of the disease.” (PI12/00879, ISCIII).

• “Using genome homozygous regions for identification of prognostic genes in melanoma

and the development of a molecular prognostic panel (PI12/00840, ISCIII).
13
20
• ”Implementation of personalized medicine based on genetic susceptibility and óT
OR
molecular signatures in the tumor in cutaneous melanoma: identification of new P
targets for the treatment of melanoma (Num: 20133134, La Marat TV3)
RE
L
• “Identification of novel pathophysiological mechanisms in Kindler Syndrome” ( 13- A
NU
726/142.04, CiberER-ISCIII)
N
A
It has began the clinical trial NCT01855971 (phase II) “Estrogen Receptors Beta (ER- R /
E
B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X ER
(TESXF).” Fragile X Foundation USA.
B
CI
Finally, during 2013 the group has carried out the molecular characterization of variants
obtained by whole exome sequencing in families affected with intellectual disability,
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familial melanoma and other genodermatoses (ej.Phacomatosis Pigmentovascularis).