Innehållsförteckning
Hur vanligt är Lynch syndrom?
Lynch syndrom orsakar cirka 2–4 procent av tjocktarmscancer i Sverige. Det finns ett flertal olika gener som orsakar Lynch syndrom.
Vad är Mikrosatellitinstabilitet MSI )? Hur används detta i klinisk vardag?
Lynchtumörer orsakas av en felaktig reparation av DNA-skador av typ MMR (mismatch repair) som i sin tur ger upphov till MSI (mikrosatellitinstabilitet). Fynd av MMR i tumörvävnad är förenligt med Lynch syndrom men har låg specificitet. Avsaknad av MSI talar starkt emot men utesluter inte helt Lynch syndrom.
Vad är Mikrosatellitinstabilitet?
Svensk definition. Förekomst av starkt polymorfa mikrosatellitupprepningar av mono- och dinukleotider i somatiska celler. Den beror på en sorts genominstabilitet sammanhängande med defekter vid reparation av DNA-felparning.
What is the risk of endometrial cancer in Lynch syndrome?
Endometrial or ovarian cancer can be the presenting cancer in individuals with Lynch syndrome, or can be a second cancer. Lifetime risk of endometrial cancer in women with MLH1 or MSH2 mutations is approximately 40 %, with a median age of 49. Women with MSH6 mutations have a similar risk of endometrial cancer but a later age of diagnosis.
What is the prognosis of women with Lynch syndrome?
Women with Lynch syndrome have an additional need to address the substantial increased lifetime risk of endometrial and ovarian cancer. Endometrial or ovarian cancer can be the presenting cancer in individuals with Lynch syndrome, or can be a second cancer. Lifetime risk of endometrial cancer in wom …
What is the relationship between Lynch syndrome and colon cancer?
Most inherited endometrial cancer is due to Lynch syndrome. In addition to endometrial cancer, individuals with Lynch syndrome are at an increased risk for colon, ovarian, gastric and other cancers.
What is the first malignancy in Lynch syndrome?
In patients with Lynch syndrome, gynecologic cancer often can be the first presenting malignancy. In this review, we summarize the genetics of Lynch syndrome and review the various modalities of identifying patients at risk for this syndrome. The clinical characteristics of Lynch-associated endometr …