Familial colon cancer


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Inclusion criteria

PREFERABLY: proband is affected by colorectal cancer (age <50)

Additional 3 family members (FDR, SDR, TDR) affected by colorectal cancer (average age <60)

Samples to be supplied from proband AND >=2 affected relatives

OR

proband is affected by colorectal or Lynch-related cancer (age <50)

Additional 2 family members (FDR or SDR of each other) affected by colorectal or Lynch-related cancer (average age <60).

If proband’s tumour is colorectal cancer, the tumour must exhibit microsatellite instability. Cancer diagnosis confirmed in >= 2 family members

Proband has <=1 living affected family members (ie ineligible for multiplex CRC)

Samples to be supplied from: proband only

 

(Lynch-related tumours: Colorectal cancer

Endometrial cancer

Ovarian cancer Pancreatic cancer

Ureter cancer

Benign skin tumours

Sebaceous adenoma

Sebaceous epithilioma

Keratoacanthoma

Skin cancers

Sebaceous carcinoma

Transitional cell cancer of renal pelvis

Gastric cancer

Hepatobiliary tract cancer Small bowel cancer Glioblastoma)

Unaffected individuals should not be recruited in this disorder. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:

MULTIPLEX FAMILY RECRUITED – GENES TO BE EXCLUDED ON PRIOR TESTING:

– MLH1, MSH2, MSH6

AND

– +PMS2 (if IHC shows isolated loss of PMS2)

LYNCH SYNDROME TESTING ONLY REQUIRED IF TUMOURS IN THE FAMILY SHOW MICROSATELLITE INSTABILITY, AND

– +APC (if proband has >10 adenomatous polyps)

PROBAND-ONLY RECRUITMENT – GENES TO BE EXCLUDED ON PRIOR TESTING: – MLH1, MSH2, MSH6 AND

– +PMS2 (if IHC shows isolated loss of PMS2) AND

– +APC (if proband has >10 adenomatous polyps)

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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