Family history of colorectal and/or Lynch-related cancer

Patients who have not had cancer but report a family history of cancer should self-refer using our family history questionnaire (details below) if they meet any of the family history criteria detailed.

Referrals are triaged by the Clinical Genetics team. Depending on the family history an assessment may be completed by letter or appointment.

If appropriate, a referral for colonoscopy screening will be made by Clinical Genetics.

Please note that not all referrals will be allocated an appointment with Clinical Genetics.

Patients who have a family history but no personal history of colorectal cancer

· The patient being referred must have an immediate affected relative.

· All affected relatives must be on the same side of the family.

· They must have at least one of the following:-

Number of relatives affected with colorectal cancer	Family History
1 relative	1 first degree relative* with colorectal cancer diagnosed <50 years
2 relatives	2 first degree relatives with colorectal cancer diagnosed at any age in first degree kinship 1 first degree & 1 second degree relative (in a first degree kinship) diagnosed with CRC at any age
3 or more relatives	3 affected first degree relatives (in a first degree kinship) with colorectal cancer diagnosed at any age

Patients with a family history that does not meet any of the above criteria are considered low risk and are eligible for the National Bowel Screening Programme from 50 years.

Patients who have had colorectal cancer AND who meet any of the following criteria (for consideration of genetic testing)

• Diagnosed CRC < 45yrs (irrespective of MMR status of tumour)

• Diagnosed with CRC/Lynch-related cancer* any age & family history meets modified Amsterdam criteria** (irrespective of the MMR status of the tumour)

• Diagnosed with dMMR tumour <70 yrs where results of IHC, BRAF &/or MLH1 hypermethylation testing suggest LS

• Has had another primary Lynch Syndrome associated cancer* (double primary)

• You suspect patient may be clinically affected with a known syndrome e.g. PJS, JPS, SPS, FAP

• Diagnosed with colorectal cancer <60yrs with ≥5 polyps

• Patient with cancer and Wimmer score > 3

• Scoring system for Constitutional Mismatch Repair Deficiency syndrome (CMMRD)

• Distinct childhood cancer predisposition syndrome: GI, brain, haematological

*Lynch-related cancers include but are not restricted to: Colorectal, Endometrial, Endocervical, Epithelial ovarian, Urothelial (urethra, bladder TCC, ureters, renal pelvis), Pancreatic, Bile duct (cholangiocarcinoma), Prostate, Small bowel, Brain (Glioblastoma), Skin (Multiple sebaceous tumours)

** ≥ 3 cases of Lynch-related cancer over ≥2 generations with ≥1 case diagnosed ≤50 years

Patients who have had colorectal polyps AND who meet any of the following criteria (for consideration of genetic testing)

• ≥5 adenomatous polyps & colorectal cancer (<60 yrs) OR

• ≥5 adenomatous polyps (age <40 yrs), OR

• ≥10 adenomatous polyps (age <60 yrs), OR

• ≥20 adenomatous polyps (age ≥ 60 years), OR

• ≥5 adenomatous polyps (age <60 yrs) AND first degree relative with ≥5 adenomatous polyps OR CRC (age <60 yrs), OR

• ≥10 adenomatous polyps (age ≥ 60 yrs) AND first degree relative with ≥5 adenomatous polyps OR CRC (age <60 yrs)

• Meets WHO diagnostic criteria for Serrated Polyposis Syndrome

• Suspect patient may be clinically affected with a known syndrome e.g. PJS, JPS, SPS, FAP

Small hyperplastic rectal polyps should not be included in the count & polyps should be histologically confirmed where possible.

Testing may be considered for unusual/large polyps occurring at a young age

Scottish Genetic test directory

The current eligibility criteria for genetic testing for patients who have had CRC and/or multiple polyps can be checked in the Scottish SSNGM Rare & Inherited Disease Test directory (Hereditary Colorectal Cancer, Polyposis and Lynch Syndrome section)