Posts Tagged ‘mutaciones’

Wednesday July 22nd, 2015

Mutations in the dark side of the genome cause leukemia

A study, published today in the journal Nature, marks a milestone in the understanding of chronic lymphocytic leukemia, the most common leukemia in adults, as the genomes of normal and tumor cells for more than 500 patients have been sequenced providing novel mechanisms involved in the development of this tumor. Cancer originates due to the progressive accumulation of mutations in the genome of normal cells. This is why seven years ago the International Cancer Genome Consortium (ICGC) was established. The main aim of this consortium was to sequence the genome of tumor cells from at least 500 patients, and do it for each of the 50 most frequent types of cancer in the world. The Spanish-led consortium in charge of the chronic lymphocytic leukemia study has been the first team to accomplish this ambitious objective. In this work, led by Dr. Carlos Lopez-Otin, from the University of Oviedo and by Dr. Elias Campo, from Hospital Clinic, IDIBAPS and University of Barcelona, more than 60 researchers from different centers have collaborated to mine the three billion bases of each tumor genome in search of alterations responsible for the development of this disease.

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Monday October 06th, 2014

Calreticulin mutations help diagnose occult myeloproliferative neoplasms in patients with splanchnic vein thrombosis

Myeloproliferative neoplasms (Fildadelfia chromosome-negative) are the most common cause of splanchnic vein thrombosis, but they are often masked. A study led by IDIBAPS has found that screening for mutations in the gene encoding calreticulin (CALR) increases the number of diagnoses of this type of cancer and may reduce the need for additional studies, such as bone marrow biopsy, in some patients. This is the first study to evaluate the frequency of these mutations in a large number of patients.

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Thursday July 03rd, 2014

A mutation in progenitor cells identified as origin and therapeutic target for cholangiocarcinoma

In recent years, cancer research has been focused on the identification of mutations in genes involved in tumor development. Nevertheless, the molecular pathways that contribute to the progression of the disease remain quite unknown. The journal Nature publishes a paper in which an international team of scientists, led by Nabeel Bardesy, PhD, from the Harvard Medical School, suggests that a mutation in the IDH enzyme (isocitrate dehydrogenase), that occurs in liver progenitor cells, promotes the progression of cholangiocarcinoma, a type of liver cancer. Josep M. Llovet, MD, PhD, ICREA Research Professor at the HCC Translational Research Lab of the Liver Unit at IDIBAPS and Director of Mount Sinai Liver Cancer Program at the Icahn School of Medicine at Mount Sinai (New York) has collaborated in the study together with Daniela Sia, PhD, and Helena Cornellà, members of the same research group.

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