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• b M., s b., s c., d b., s y., r a.,t JP., M
Most relevant oGliolochustertoePkererkuntuaaMsruJilloinGuillón
J., raMírez MJ., PuJol r., casado Ja., baños r., rio P., knies k., zúñiGa s., benítez J.,
scientific b Ja., J n., s o., d W J., d s d.* s J.*.
uerenasPerschärereinteretleVchindlerand urrallés
articles
Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi

anemia. Am. J. Hum, Genet. 2013 May 2 ; 92, 1-7.

• aulinas a, raMírez MJ, barahona MJ, Mato e, bell o, surrallés J, Webb sM. Telome-
res and endocrine dysfunction of the adrenal and GH/IGF-1 axes.. Clin Endocrinol.

2013. 79,751-759.

• osorio a, boGliolo M, Fernández V, barroso a, de la hoya M, caldés t, lasa a, raMón y ca-
t, s M, V a, q F, l c, d o, F d, G-s
Jal antaMariñaeGauilesázaroíezernándezonzálezarMiento
r, durán M, Piqueras JF, Marín M, PuJol r, surrallés J, benítez J. Evaluation of rare
variants in the new Fanconi Anemia gene ERCC4 (FANCQ) as familial breast/ ovarian

cancer susceptibility alleles. Human Mutation. 2013. Dec;34(12);1615-8.

Highlights
Our main research achievement in 2013 was the identification of a novel Fan-
coni anemia (FA) gene, FANCQ in collaboration with Javier Benitez (U706) and

Juan Bueren (U710) teams. This gene, also known as ERCC4 or XPF, was already

involved in two other syndromes, xeroderma pigmentosum and XFE-type proge-
ria. Our main difficulty was to prove and mechanistically explain why different

mutations in the same gene cause three clinically non-overlapping DNA dama-

ge response syndromes. The study was published in Am J Hum Genetics and it
was recognized with two international research awards: Discovery Award 2013

(Fanconi Anemia Research Fund. Houston. USA) and Award of Appreciation 2013
(German Fanconi Anemia Family Support Group. Gersfed. Frankfurt. Germany).

In addition, in the frame of an intramural project and in collaboration with Javier

Benitez and Jose Fernandez-Piqueras teams (CIBERER Units U706 and U749), we
investigated the role of this novel FA gene in familiar breast cancer. With this pur-

pose ERCC4/FANCQ/XPF was sequenced in over 1597 cases and 854 controls and

all identified mutations were functionally studied. The results were published in
Hum Mut and exclude FANCQ as a novel breast cancer susceptibility gene. Howe-

ver, we found more carriers that expected in the general population suggesting an
excess of embryo lethality of biallelic FANCQ mutations.

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