Colon cancer screening in cases of hereditary or familial risk
Learn about prevention options when there is an increased risk of cancer
If there is a high incidence of colon cancer in your family, there is a possibility that your own risk of colon cancer is also increased. This may be due to a form of familial colon cancer or genetically determined colon cancer. In these cases, early check-ups are particularly important. At present, the Federal Joint Committee (G-BA), the highest decision-making body for statutory health insurance in Germany, does not specifically consider people with such an increased risk in its cancer screening guidelines. Doctors therefore follow existing treatment guidelines, which also provide recommendations for risk-adjusted colon cancer screening. However, this does not give insurants a legal right to such screening. This page provides information on the screening options available to people at risk as well as other important information on familial or hereditary colon cancer.
Familial colon cancer
A familial risk of colon cancer occurs when there are cases of colon cancer in the family, but this clustering cannot be explained by genetic factors. This type of risk cannot therefore be tested genetically. This risk can only be confirmed by looking at the family medical history – namely, asking which family members have already developed the disease. Around 30 to 35% of people with a new diagnosis of colon cancer have a family history of the disease.
The closer the degree of kinship and the younger the age of onset of the affected family members, the higher the individual’s own risk of developing the disease. The risk of developing colon cancer at a particularly young age is also increased in such cases. Individuals with a family history of the disease have a two to four times higher probability of developing it compared to individuals without a family history.
If several of your relatives have or have had colon cancer, we recommend that you first contact your GP practice. Based on your family history, they will be able to determine whether you also have an increased risk of colon cancer. To clarify whether early colon cancer screening is necessary, your GP practice may also refer you to a gastroenterologist.
If a family history has been identified, your GP or gastroenterologist will draw up a suitable check-up plan for you. This plan may be based on the treatment guidelines for colon cancer. These guidelines recommend early colonoscopy for people who have first-degree relatives with colon cancer. Ideally, the first colonoscopy should be performed ten years before the age at which the affected family member developed the disease, but no later than 40 to 45 years of age. For example, if the father developed the disease at 41, his daughter should ideally have her first colonoscopy at 31. The colonoscopy is then repeated at least every ten years, and the intervals between examinations can be shortened if abnormalities are found.
Hereditary colon cancer
As with familial colon cancer, a hereditary form of colon cancer is associated with a familial clustering of colon cancer cases. However, in these cases, the clustering and increased risk are due to genetic changes that can be passed on to offspring. Genetic testing can be used to determine whether a person is affected by a hereditary form of colon cancer. If such a risk is detected, the probability of developing the disease is 80%. Approximately 5% of new cases each year are affected by hereditary colon cancer. Early screening is recommended, especially for hereditary forms.
The most common form of hereditary colon cancer is hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome. This form is caused by defective genes that are passed on from one parent to their offspring. In addition to an increased risk of colon cancer, those affected also have a risk of other cancers such as stomach, ovarian or cervical cancer.
The second most common form of hereditary colon cancer is adenomatous polyposis (FAP). Those affected develop many intestinal polyps at a very young age, which almost without exception develop into colon cancer over time. People with FAP also have an increased risk of thyroid cancer. If one parent has FAP, there is a 50% risk that their children will also develop the disease. Therefore, children of affected parents should undergo genetic testing at the age of ten to detect any possible disease.
If you suspect that you may have a hereditary risk of colon cancer, we recommend that you first contact your GP practice. They will arrange to undertake a detailed family history in order to find evidence of a hereditary form of colon cancer. If various criteria are met, the probability of hereditary colon cancer is very high. It is best to ask your GP practice to refer you directly to a
If Lynch syndrome has been diagnosed or the gene mutation cannot be ruled out, those affected should participate in early detection screening from the age of 25 or at least five years before the youngest age at which a family member developed the disease – in accordance with the recommendations in the treatment guidelines for colon cancer.
Annual colonoscopies are recommended for those affected, and women aged 25 and over are also recommended to have an annual gynaecological ultrasound scan for the early detection of ovarian and uterine cancer. From the age of 35, regular gastroscopy may also be advisable for people at risk – for example, if there is a family history of stomach cancer.
The personal screening scheme, which is tailored to the individual according to these recommendations, should be carried out throughout life. This also applies if colon cancer has already been detected and surgically removed.
According to the treatment guidelines, comprehensive early detection is recommended for people at risk of FAP in whom the mutation has either been confirmed or cannot be ruled out.
This should begin at the age of ten, provided that the disease is already known at this point. The guideline recommends that doctors perform a small colonoscopy (sigmoidoscopy) on affected individuals every year. Sigmoidoscopy only examines the lower section of the intestine, as polyps form particularly frequently there in FAP. If polyps are found, a complete colonoscopy should be performed to remove them. Especially in female patients, an ultrasound of the thyroid gland may be advisable from the age of 15, as tumours also form more frequently there in FAP, especially in women.
Before the age of 20 or after puberty, it is even advisable to have the colon and rectum removed, which still preserves the anus and the function of the sphincter muscle. Subsequently, an annual colonoscopy is recommended for those affected.
From the age of 30, a gastroscopy should be performed every three years, as polyps can also develop in the stomach and duodenum.
These guideline recommendations can be used in medical treatment to decide which measures should be taken in individual cases.
Costs covered for early preventative care services in cases of familial or hereditary colon cancer risk
If a familial risk or hereditary form of colon cancer has been identified, benign or malignant changes are suspected to already be present in the intestine. The doctor will therefore draw up an individual, risk-adjusted screening plan. Ideally, this should be based on the treatment guidelines for colon cancer.
These medically necessary examinations can be billed with the SBK Healthcare Card. This means that insurants do not incur any additional costs.
Preview: will a risk of familial and hereditary colon cancer become part of future statutory colon cancer screening?
The Bavarian model project FARKOR has shown that lowering the age limit for colonoscopy and faecal occult blood testing (iFOBT) to 30 years for people with a positive family history appears to be sensible.
The Innovation Committee is in favour of transferring this to the standard care provided by statutory health insurance. The project findings and the G-BA’s transfer recommendation have already been forwarded to the G-BA’s Methods Assessment Subcommittee for review, with a view to incorporating them into a revision of the guideline for organised cancer screening programmes (oKFE-RL).
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