Povzetek
Na Oddelku za molekularno diagnostiko Onkološkega inštituta Ljubljana smo uvedli testiranje zarodnih mutacij vgenu MSH6. Mutacije v tem genu so povezane z Lynchevim sindromom in predstavljajo povečano verjetnost za nastanekraka na debelem črevesu in danki, raka maternične sluznice,raka jajčnikov in drugih vrst raka. Za testiranje prisotnosti mutacij v genu MSH6 uporabljamo metodo neposrednega sekvenciranja in metodo MLPA (ang. multiplex ligation-dependentprobe amplification). S sekvenciranjem odkrivamo točkovne mutacije in manjše delecije ter insercije. Z metodo MLPA pa prisotnost večjih delecij in insercij v genu, oziroma delecijo celotnega gena. Mutacije v genu MSH6 testiramo pri osebah, za katere se v postopku genetskega svetovanja pokaže večja verjetnost Lynchevega sindroma. Pravočasno odkrivanje mutacij v genih, povezanih z nastankom raka, je za nosilce mutacij pomembno, saj je dokazana mutacija razlog za prilagojeno klinično spremljanje in preventivne ukrepe pri nosilcih mutacije.
Ključne besede
rak prebavil;kongresi;
Podatki
Jezik: |
Slovenski jezik |
Leto izida: |
2013 |
Tipologija: |
1.04 - Strokovni članek |
Organizacija: |
UM - Univerza v Mariboru |
UDK: |
616.3 |
COBISS: |
1680763
|
ISSN: |
1408-1741 |
Matična publikacija: |
Onkologija
|
Št. ogledov: |
2178 |
Št. prenosov: |
506 |
Ocena: |
0 (0 glasov) |
Metapodatki: |
|
Ostali podatki
Sekundarni naslov: |
15th World Congress on Gastrointestinal Cancer |
Sekundarni povzetek: |
The 15th World Congress on Gastrointestinal Cancer took place from 3 to 6 July 2013 in Barcelona. This is a global event addressing individual types of gastrointestinal cancer in accordance with the latest recommendations and findings, from diagnosis to treatment. The focus is on individual management of each patient and the importance of a multidisciplinary approach, including the most recently discovered molecular mechanisms. Over 60 world-renowned lecturers, all experts in their fields, presented the latest findings and recommendations or lead small targeted groups of physicians who attended sessions on specific topics. At the Congress, the participants were also given the opportunity to present their research results, with their abstracts being published in the Annals of Oncology. Two Slovenian abstracts were presented, both from the field of postsurgical treatment of gastric cancer. In the following pages, we will present only some of the new findings and the outlines presented at the Congress. |
URN: |
URN:NBN:SI |
Strani: |
str. 100-102 |
Letnik: |
ǂLetn. ǂ17 |
Zvezek: |
ǂšt. ǂ2 |
Čas izdaje: |
dec. 2013 |
ID: |
10957696 |