Publications by authors named "Magnus V Knebel-Doeberitz"

Background: We previously reported that in pathogenic mismatch repair () variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated.

Methods: The Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was examined to determine survival after colon cancer in relation to the time since previous colonoscopy and pathological stage. Only variants scored by the InSiGHT variant database as class 4 or 5 (clinically actionable) were included in the analysis.

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Article Synopsis
  • Lynch syndrome is caused by certain gene changes (MLH1, MSH2, MSH6, PMS2) that can lead to different kinds of cancer risks depending on the gene and gender.
  • A study looked at 6,350 people with these gene changes to find out more about their specific cancer risks and survival rates.
  • They found that MLH1 and MSH2 carriers had higher cancer risks, especially for colorectal and endometrial cancers, while MSH6 mainly increased endometrial cancer risk, and not much for PMS2. Most people lived over 10 years after getting treated for these cancers.
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Background & Aims: The risk for small bowel cancer (SBC) is significantly increased in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly characterized.

Methods: Thirty-two SBCs were characterized according to clinical, pathologic, and germline mutation data.

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