# Family history of colon cancer

- Category: chronic
- Review status: reviewed (every claim checked against a document named on this page)
- Sources: Colon Cancer Screening - StatPearls (NCBI Bookshelf NBK559064) - https://www.ncbi.nlm.nih.gov/books/NBK559064/ · ICPC-3 (WONCA International Classification of Primary Care, 3rd edition) class AP66.01 - condition scope only, no dose · No dose - referral pathway, no medicine given in primary care
- Verified date: 2026-08

## Verified against

- No dose - referral pathway, no medicine given in primary care
- Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome) - disease-level clinical article (family-history-colon-cancer-full.txt)

## Treatment metadata

- No drug therapy in primary care (Referral & Advice)

## Complete treatment card

```text
FAMILY HISTORY OF COLON CANCER
Sources: Colon Cancer Screening - StatPearls (NCBI Bookshelf NBK559064) -
         https://www.ncbi.nlm.nih.gov/books/NBK559064/ · ICPC-3 (WONCA International Classification
         of Primary Care, 3rd edition) class AP66.01 - condition scope only, no dose · No dose -
         referral pathway, no medicine given in primary care
Review status: REVIEWED against No dose - referral pathway, no medicine given in primary care,
               Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome) - disease-
               level clinical article (family-history-colon-cancer-full.txt)
               (2026-08)

IS IT THIS? - reference only, to read alongside your own examination
  SYMPTOMS - what the patient reports (5)
    - A strong family pattern of colorectal or endometrial cancer, especially cases diagnosed before
      age 50 across several generations, is characteristic
    - A personal history of colorectal cancer diagnosed before 50, right-sided tumors, or more than
      one primary cancer is relevant
    - Colorectal cancer can show up as rectal bleeding, a change in bowel movements, abdominal pain,
      weight loss, or fatigue  [abdominal pain · fatigue · rectal bleeding · weight loss]
    - Abnormal uterine bleeding, pelvic pain, or bloating in a woman can point to endometrial or
      ovarian involvement  [abdominal distension · abdominal pain · abnormal uterine bleeding ·
      pelvic pain]
    - Brain, urinary tract, biliary tract, stomach, or small-bowel tumors are among the other
      cancers linked to this syndrome
  SIGNS - what you find (5)
    - Chronic-illness signs such as anemia-related pallor, or wasting and weight loss, can appear in
      advanced disease  [anaemia · muscle wasting · pallor · weight loss]
    - A palpable abdominal mass, organ enlargement, or ascites can be found on exam in advanced
      disease  [abdominal mass · ascites]
    - Rectal exam may turn up a palpable mass or evidence of blood in the stool  [bloody diarrhoea ·
      diarrhoea]
    - Sebaceous skin tumors or keratoacanthomas on skin exam suggest the Muir-Torre variant of this
      syndrome
    - Uterine enlargement or an adnexal mass may turn up on gynecologic exam  [pelvic mass]
  TESTS (6)
    - Screening for testing is guided by the Amsterdam II criteria or the revised Bethesda
      guidelines
    - Tumor testing uses immunohistochemistry for mismatch-repair proteins or PCR for microsatellite
      instability
    - Amsterdam II criteria call for more than 3 affected relatives across at least 2 generations,
      one a first-degree relative of the other two, with at least one case diagnosed before age 50
    - The revised Bethesda guideline flags colorectal cancer diagnosed before age 50 for testing
    - Because test choice and interpretation are complex and the results affect the whole family,
      genetic counseling should come before germline testing
    - When staining shows the MLH1 protein is missing, checking for a BRAF mutation or promoter
      methylation helps tell a sporadic cancer from true HNPCC
  IF NOT THIS - what else fits (3)
    - Microsatellite instability from a spontaneous, non-inherited mutation can look the same and
      needs molecular workup to sort out
    - Cowden syndrome, MUTYH-associated polyposis, and familial adenomatous polyposis are other
      hereditary colorectal syndromes that need to be ruled out
    - Some affected families show incomplete penetrance, which can make carriers harder to spot from
      family history alone
  Source  StatPearls "Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome)" - disease-level
          clinical article
  Status  traced to the source above

1. NO DRUG THERAPY IN PRIMARY CARE (REFERRAL & ADVICE)    [1st line]
   Adult    A risk factor, not a disease; the GP's role is to advise on earlier/more frequent
            colonoscopy screening and refer for it, not to prescribe. - Refer, with advice
   Peds     Children follow the same pathway: recognise and refer. No primary-care medicine is
            implied.
   Source   No dose - referral pathway, no medicine given in primary care
   Why      A risk factor, not a disease; the GP's role is to advise on earlier/more frequent
            colonoscopy screening and refer for it, not to prescribe.
   Caution  No medicine is prescribed for this in primary care - this entry is for recognition and
            referral. Anything given is decided by the service it is referred to.
            The red flag symptoms of colorectal cancer are rectal bleeding, changes in bowel habits,
            abdominal pain, and weight loss.
            RED FLAG - Multiple affected first-degree relatives, or a relative diagnosed under age
            50; personal symptoms (rectal bleeding, a change in bowel habit, weight loss) need
            urgent work-up regardless of the family history.

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