Detection of BRAF V600E mutation in colorectal cancer by IHC
Research type
Research Study
Full title
Detection of BRAF V600e mutation in colorectal cancer with loss of MLH1 by immunohistochemistry
IRAS ID
150005
Contact name
Ray McMahon
Contact email
Research summary
Colorectal cancer (CRC) arises in the large bowel, which includes the ascending, transverse, descending and sigmoid colon and rectum and is responsible for water absorption. There are many genetic problems that can cause CRC, such as mutations of a number of different genes. It is important to identify whether a cancer has developed because of an inherited genetic defect, so that other family members can be tested to determine whether they are at a greater risk of developing cancer. Lynch syndrome is a hereditary disorder that is characterised by rapid progression of colonic polyps to invasive cancer. Polyps are small growths that are usually benign (non-cancerous), however patients with Lynch syndrome are at 80% lifetime risk of developing CRC. This highlights the necessity of determining whether a patient has a genetic disorder, such as Lynch syndrome.
The presence of a gene alteration, or mutation, of the BRAF (v-raf murine sarcoma viral oncogene homolog B) gene in CRC suggests that the cancer is of sporadic origin, rather than due to Lynch syndrome. If a cancer were suspected to be the result of Lynch syndrome, specific genetic tests would be carried out to determine the exact mutation, which would influence the treatment options for the patient. By detecting a BRAF mutation, these expensive genetic tests would not be necessary.
Currently BRAF mutations are detected by a PCR (polymerase chain reaction) method of genetic testing, which is expensive and time consuming. This study will determine whether BRAF mutation can be detected using a cheaper and simpler method of immunohistochemistry (IHC). The results of the IHC will be compared to the current ‘gold standard’ method retrospectively using archived tissue samples.
The research will be funded by and be performed in the histopathology laboratory at Central Manchester Foundation Trust (CMFT).
REC name
North of Scotland Research Ethics Committee 1
REC reference
14/NS/1047
Date of REC Opinion
28 Aug 2014
REC opinion
Favourable Opinion