Innehållsförteckning
Vad är Cowdens syndrom?
När könslinjemutationer i PTEN inträffar blir resultatet Cowden syndrom (eller mindre vanligt en av flera relaterade sjukdomar som tillsammans kallas PTEN hamartomtumörsyndrom). Detta kännetecknas av tillväxten av hamartom och en hög risk cancer i flera organsystem.
What is Cowden syndrome?
What is Cowden syndrome? Cowden syndrome is a rare, autosomal dominant, inherited condition characterised by hamartomas in various organs, including breast, thyroid, uterus, brain, and mucocutaneous tissues with increased risk of malignancies. It is also known as ‘Cowden disease’ or ‘multiple hamartoma syndrome’.
What tests are used to diagnose Cowden syndrome?
A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a mutation in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not found, genetic testing for the other genes known to cause Cowden syndrome can be considered. [1]
Is Cowden-like syndrome autosomal dominant?
Cowden syndrome and Cowden-like syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition and increase the risk of developing cancer. In some cases, an affected person inherits the mutation from one affected parent.
People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions.
Är tarmcancer ärftligt?
Ju vanligare en cancersjukdom är desto fler ärftliga varianter av den finns. De cancersjukdomar där ärftliga former är vanligast är malignt melanom, bröstcancer, tjock- och ändtarmscancer, prostatacancer samt gynekologisk cancer.
Hur känns tarmcancer?
Tarmcancer symtom Förstoppning eller täta trängningar. Ändrade avföringsvanor. Hård i magen eler lös i magen. Smärta, ibland som knipsmärtor.
https://www.youtube.com/watch?v=h0-qEAJZ7Zk