A few years ago, Javier Ben\u00edtez, director of the Human Genetics Group at the CNIO, received a call from Pablo Garc\u00eda Pav\u00eda, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS). Could the experts in genetics do something? \u201cAt that time we tried a few ideas, but unsuccessfully,\u201dsays Ben\u00edtez. We have had to wait for modern genome analysis techniques to discover the brothers\u2019 genetic problem. The finding opens a way to identify CAS families who are carriers of a mutation in the gene
\nresponsible for the disease. Family members could then benefit from an early diagnosis and the appropriate treatment.<\/p>\n
Researchers in Ben\u00edtez\u2019s group recently revaluated the case of the
\nbrothers with CAS. After sequencing their exome \u2014 the part of the
\ngenome that is translated into protein and therefore the one that most
\ninfluences the state of the organism, they found that the cause of the
\nillness was a mutation in a gene called POT1.<\/p>\n
The identification of this gene led them directly to another CNIO group,
\nthe Telomere and Telomerase Group, headed by Mar\u00eda Blasco. POT1 is
\none of the proteins that comprise the protective shield around telomeres
\n\u2014 the structures that protect the tips of chromosomes \u2014 and it has
\nrecently been identified as responsible for other forms of hereditary
\ncancer: melanoma and familial glioma. Blasco\u2019s group is not only one of
\nthe leading groups in the field of telomeres, but has also participated \u2014
\ntogether with the groups headed by Carlos L\u00f3pez-Ot\u00edn and El\u00edas Campo \u2014
\nin the first description of the mutation of this gene in human cancer
\n(chronic lymphocytic leukaemia). <\/p>\n
Cardiac angiosarcoma is a rare but malignant disease. In the case of
\nhereditary CAS, the median survival expectancy is only four months
\nbecause the disease is diagnosed at an advanced stage. Until now, no
\nrelated gene has been identified.<\/p>\n
CNIO researchers also observed that hereditary CAS occurs in families with
\na high incidence of other types of cancer. This is similar to what is
\nobserved in people affected by the so-called Li-Fraumeni syndrome, which
\nis caused by a mutation in the tumour suppressor gene \u2014 nicknamed the
\ngenome guardian \u2014 P53. However, POT1, but not P53, was found
\nmutated in the families affected by CAS. <\/p>\n
The discovery of the new mutation proved to be even more significant
\nfrom a clinical perspective, given that it identified carriers at risk of
\ndeveloping cardiac angiosarcoma and possibly other tumours.<\/p>\n
As Ben\u00edtez explained, \u201cin the past, we simply didn’t have anything that
\ncould help in identifying these people at risk, because there were no
\nmarkers for familial CAS or for families with a syndrome similar to Li-
\nFraumeni without P53 mutations. This study uncovers one of the genes
\nthat explains the high incidence of cancer in some of them.\u201d<\/p>\n
\u201cThe translation of these results into the clinic is immediate,\u201d says Blasco.
\n\u201cIn fact, we are already helping families that carry this mutation.\u201d\nCNIO<\/link>\n","protected":false},"excerpt":{"rendered":"
A few years ago, Javier Ben\u00edtez, director of the Human Genetics Group at the CNIO, received a call from Pablo Garc\u00eda Pav\u00eda, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS). Could the experts in genetics do something? […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"rank_math_lock_modified_date":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"class_list":["post-1330","post","type-post","status-publish","format-standard","hentry","category-e-news"],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1330"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1330"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1330\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1330"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1330"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1330"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}