Page 81 - MemoriaER-Eng

www.ciberer.es

• M k, P. h . A. Dunning, J. Benitez, D. Easton (2013). Large scale
Most relevant ichailidouallet al
genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45,
scientific 353-361.

articles
• coMino-Méndez i, et. al. (2013). Tumoral EPAS1 (HIF2A) mutations explain sporadic
pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum Mol

Genet 22, 2169-2176.

• de cubas aa, et al. (2013). Integrative analysis of miRNA and mRNA expression pro-
files in pheochromocytoma and paraganglioma identifies genotype-specific markers

and potentially regulated pathways. Endocr-Relat Cancer 20, 477-493.

• Gracia-aznares FJ, Fernández V et al. Devilee P, Benitez J. (2013) Whole exome se-
quencing suggest much of non BRCA1/2 breast cancer is due to moderate and low

susceptibility allele. Plos One 8(2):e55681.

• osorio a, boGliolo M, et al. , Surrallés J, Benítez J (2013). Evaluation of rare variants
in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer

susceptibility alleles. Hum Mutat 34(12):1615-8.

U706 works in the study of genetic bases of familial cancer. The main activity is
Highlights
focused in the study of breast and ovarian cancer, colorectal cancer and endocrine

tumors.

In the first case we want to remark the group of papers that were published in
April, in a Nature monography (Nature Collections iCOGS, April 2013) that in-

cludes 9 Nat Genet and 2 Nat Communicat identifying new susceptibility genes

to breast and ovarian cancer. These genes also explain a percentage of familial
cancer risk. These works belong to the results obtained in the iCOGS European

project in which J.Benitez was the coordinator of a working group and also the
coordinator of one of the main papers (Michailidou K et al, Nat Genet 2013).

In colorectal cancer we want to remark the association of a new gene AXIX2 with

a specific moderated subtype of polyposis colorectal cancer (APC).

With regard to endocrine cancer, genetic heterogeneity is one of the main charac-

teristics and every year a new gene is discovered. In this occasion our group has
demonstrated the relation between the new EPAS1 gene and pheochromocitoma/

paraganglioma tumors. Somatic mutations induce hypoxia that deregulate some
genes important for cancer development. (Comino-Mendez I et al. . Hum Mol

Genet 2013)

Finally is important to consider the work that we are doing in the search for new

high susceptibility genesto families with rare and /or infrequent cancers by whole
exome sequencing. This work started in 2010 and we are obtaining very good

results that we are starting to publish (Gracia Aznares FJ et al, Plos One 2013).
13
20
T
OR
P
RE
L
A
NU
N
A
R /
E
ER
B
CI

81