Gene |
Condition |
Main cancer risks |
About the Condition |
APC |
Familial Adenomatous Polyposis (FAP) |
Bowel: <100% |
FAP and AFAP are inherited conditions which cause multiple bowel polyps (over 100 in classical FAP), as well as a significantly increased risk of bowel, small bowel (4-12%) and other cancers. These conditions are rare: approximately 2-3 people in 100 000 will have FAP. However, about 25% of people with FAP will have a new mutation in the APC gene: this means that it occurred for the first time in them and so they usually won’t have a family history of cancer. If someone has FAP, screening can begin in their teens and they usually consider having their bowel and rectum removed. AFAP seems to be milder with people having fewer polyps and usually a later age of onset and would need increased bowel screening. |
BMPR1A |
Juvenile Polyposis Syndrome |
Bowel:38-68% |
Juvenile polyposis (JPS) causes many polyps in the bowel and most people will develop some polyps by the age of 20. As well as an increased risk of bowel cancer JPS also increases the risk of stomach cancer (21%) and possibly other cancers. Colonoscopy and endoscopy screening will be recommended. |
EPCAM |
Lynch Syndrome |
Bowel: 33-53% Prostate: 12-52% Ovarian: 6-28% |
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 1–3% of all bowel cancer. LS associated with EPCAM causes an increased risk of bowel (33-53%), womb (42-72%), ovarian (6-28%), stomach (2-14%), prostate (12- 52%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome.
For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers.
|
MLH1 |
Lynch Syndrome |
Bowel: 38-54% Prostate: 8% - 25% Ovarian: 5-15% |
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MLH1 causes an increased risk of bowel (38-54%), womb (31 - 49%), ovarian (5-15%), stomach (4-11%), prostate (8- 25%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers. |
MSH2 |
Lynch Syndrome |
Bowel: 33-53% Prostate: 12% - 52% Ovarian:6-28%
|
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MSH2 causes an increased risk of bowel (33-53%), womb (42 to 72%), ovarian (6-28%), stomach (2-14%), prostate (12- 52%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome effective in Lynch syndrome related cancers. |
MSH6 |
Lynch Syndrome |
Bowel: 3-27% Prostate: <44% Ovarian: <31%
|
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MSH2 causes an increased risk of bowel (33-53%), womb (42 to 72%), ovarian (6-28%), stomach (2-14%), prostate (12- 52%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome effective in Lynch syndrome related cancers.
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MSH6 causes an increased risk of bowel (3-27%), womb (27-65%), ovarian (up to 31%), stomach ( up to 13%), prostate (up to 44%) cancer and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers.
|
MUTYH |
MUTYH Associated Polyposis |
Bowel: 43-100% |
MUTYH Associated Polyposis (MAP) causes an increased risk of bowel polyps and bowel cancer. It is unusual in that it is inherited in a recessive pattern. This means that someone must inherit a mutation from their mother AND father to be affected. Someone with MAP would be advised to have regular bowel screening and may consider more extensive surgery if they have been diagnosed with bowel cancer. |
PMS2 |
Lynch Syndrome |
Bowel: 7-22%
Prostate: unclear
|
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with PMS2 causes an increased risk of bowel (7-22%) and womb cancer (7-24%). It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers. |
PTEN |
Cowden's Syndrome |
Breast: <85% Bowel: 9-16%
|
Cowden syndrome causes bowel polyps, benign skin lesions, benign breast disease, large head size (macrocephaly), autism and other features. Individuals with Cowden syndrome have an increased risk of bowel (9%), breast (85%), kidney (34%), thyroid (35%), and womb (28%) cancers as well as a risk of melanoma (5%). Colonoscopy as well as mammograms, renal MRI, skin examination and thyroid ultrasounds will be recommended. Risk reducing surgery may be considered. |
SMAD4 |
Juvenile Polyposis syndrome |
Bowel: 38-68% |
Juvenile polyposis causes many polyps in the bowel and most people will develop some polyps by the age of 20. As well as an increased risk of bowel cancer JPS also increases the risk of stomach cancer (21%) and possibly other cancers. Colonoscopy and endoscopy screening will be recommended. 22% of people with SMAD4 mutations will also have hemorrhagic telangiectasia (malformations of the veins). |
STK11 |
Peutz Jeghers syndrome |
Breast: 45%
Bowel: 39%
|
Peutz Jeghers Syndrome (PJS) causes polyps in the large and small bowel, as well as ovarian tumours and abnormal colouring of the skin in childhood, particularly on the lips. PJS causes an increased risk of bowel (39%), breast (45%), pancreatic (11%) and other cancers. Mammograms, colonoscopies and other cancer screening will be recommended. |