Lynch syndrome-the assessment of identification at MDT

• Research type

  Research Study

• Full title

  Lynch syndrome – the assessment of identification at MDT and exploring clonal diversity and evolution

• IRAS ID

  207917

• Contact name

  CHUKWUEMEKA ANELE

• Contact email

  C.ANELE@DOCTORS.ORG.UK

• Sponsor organisation

  Research and development team, Central Middlesex, Northwick Park and St Marks Hospitals

• Duration of Study in the UK

  2 years, 0 months, 1 days

• Research summary

  Lynch syndrome (LS) is the most common inherited cause of colorectal cancer (CRC). It accounts for 3-5% of CRC and also predisposes to cancers at other sites such as uterus, ovary and stomach. LS is caused by mutations in the genes responsible for repairing faulty DNA. LS individuals also have a high risk of developing another CRC a few years after surgery for index CRC.

  Traditionally, specialised screening for LS is performed on resected specimen in CRC patients who fulfill specific criteria. There are few/no data to assess the reliability of this method of testing in other specimens such as preoperative diagnostic biopsies or lymph nodes and metastasis in advanced disease.

  Inflammatory bowel disease (IBD) is a risk factor for colorectal cancer. Many of these cases, due to their young age will fulfill the criteria for testing for LS. MMR IHC is often not performed as it is assumed that the CRC is IBD related. There are few/no data to assess coexistence of the two conditions.

  There will be two parts to the study:

  1) Retrospective analysis of archived tissue specimens of lynch syndrome CRC. These will include: resected CRC specimen, lymph nodes and metastatic tissues from advanced CRC and pre and post chemo- radiotherapy specimen. Mismatch repair immunohistochemistry (MMR IHC) will be performed on these tissue comparing:

  • Diagnostic biopsies vs Resected specimen
  • Lymph node vs Metastasis vs Resected specimen
  • Pre and post chemo-radiotherapy specimens of LS individuals

  2) MMR IHC on all IBD CRC which fulfil Bethesda criteria to test for Lynch syndrome

  The benefit of this research is to enhance our ability to diagnose LS. This may improve surgical decision making and patient autonomy with regards to extent of bowel resection (limited/extended), prevent invasive investigations and influence oncological treatment.

• REC name

  London - Brent Research Ethics Committee

• REC reference

  16/LO/1857

• Date of REC Opinion

  9 Dec 2016

• REC opinion

  Further Information Favourable Opinion