TY - JOUR
T1 - Nye arvelige polyposesyndromer som differentialdiagnose hos patienten med tarmpolypper
AU - Jelsig, Anne Marie
AU - Jespersen, Niels
AU - Karstensen, John Gásdal
AU - Ketabi, Zohreh
AU - Rønlund, Karina
AU - Sunde, Lone
AU - Thorlacius-Ussing, Ole
AU - Wadt, Karin
AU - Qvist, Niels
AU - Lautrup, Charlotte Kvist
PY - 2021/9/20
Y1 - 2021/9/20
N2 - Hereditary polyposis syndromes (HPS) are a group of rare, inherited syndromes characterised by the presence of histopathological specific or numerous intestinal polyps and a high risk of intestinal and extraintestinal cancer. During the last decade, several new HPS have been discovered, as it is possible to detect pathogenic germline variants in genes not previously known to be associated with polyposis. This review summarises the current knowledge on the syndromes and discusses genetic testing as part of the diagnostic pipeline when suspecting a polyposis syndrome.
AB - Hereditary polyposis syndromes (HPS) are a group of rare, inherited syndromes characterised by the presence of histopathological specific or numerous intestinal polyps and a high risk of intestinal and extraintestinal cancer. During the last decade, several new HPS have been discovered, as it is possible to detect pathogenic germline variants in genes not previously known to be associated with polyposis. This review summarises the current knowledge on the syndromes and discusses genetic testing as part of the diagnostic pipeline when suspecting a polyposis syndrome.
KW - Colorectal Neoplasms
KW - Genetic Testing
KW - Humans
KW - Intestinal Polyposis/diagnosis
KW - Intestinal Polyps
KW - Nasopharyngeal Neoplasms
KW - Neoplastic Syndromes, Hereditary/diagnosis
M3 - Review
C2 - 34596519
SN - 0041-5782
VL - 183
SP - 1
EP - 8
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
IS - 38
M1 - V02210148
ER -