Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new… (More)
Aim of this study is to evaluate the outcome of long-term conservative treatment with sulindac and high-dose selective estrogen receptor modulators (SERMs) for sporadic and FAP-associated desmoid tumors. Desmoids are very rare tumors in the general population but occur frequently in FAP patients, being encountered in 23–38 %. Treatment of desmoids is still… (More)
An ambitious plan to collect, curate, and make accessible information on genetic variations affecting human health is beginning to be realized.
A Ab bs st tr ra ac ct t The criteria for the diagnosis of HNPCC established by the ICG-HNPCC are very restrictive as they do not allow for the diagnosis of a large number of " suspected HNPCC " cases – these are families which do no fulfill the strict diagnostic " Amsterdam criteria " , but do present with several pedigree and clinical features… (More)
The ileoanal pouch has become the standard restorative procedure of choice for patients with the classical phenotype in FAP (familial adenomatous polyposis) and also for ulcerative colitis (UC). Whilst we tend to encounter descriptive analyses comparing functional outcome, fertility and quality of life (QOL) between series in literature, there may be an… (More)
In the last 10 years, the number of publications dealing with the topic gender medicine has rapidly increased. When conducting a search for the term 'gender medicine' on PubMed, the result amounts to more than 40,000 publications. Why? Gender in medicine has been misunderstood for a long time. Most people assumed that the gender issue in medicine is based… (More)
BACKGROUND The most frequent hereditary colorectal cancer (CRC) syndromes are Lynch syndrome and familial adenomatous polyposis (FAP), accounting for approximately 5% of the CRC burden. Both are characterized by an autosomal dominant mode of transmission and require an individualized approach of intensified screening and prophylactic surgery. METHODS In… (More)