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Genes we test for

Genes are the body’s instructions and determine how the body develops and is maintained. Some genes prevent cancer developing: if there is a mutation in one of these cancer genes, then the gene doesn’t work correctly and causes an increased risk of cancer.  Mutations in at least 23 genes can cause an increased risk to specific types of cancer. We also know that there must be other genes which are also associated with cancer.

 

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.
ATM ATM Associated Cancer Breast: 17 - 60%
Prostate: moderate risk
Approximately 1 in 200 people (0.5%) will carry a mutation in the ATM gene. Individuals with a mutation in the ATM gene have a moderately increased risk of breast cancer, as well as an increased risk of radiation-sensitivity. Increased breast screening is recommended. This gene has also been shown to cause a significantly increased risk of prostate cancer which is more likely to be of a higher grade and therefore to benefit from treatment. Rarely a baby may inherit an ATM mutation from their mother AND their father, in which case they will have the congenital condition called Ataxia- Telangiectasia (AT). AT causes uncontrollable movements (ataxia), immune defects, and an increased risk of leukaemia and lymphoma.
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.
BRCA1 HBOC Breast: <85%
Prostate: ~20%
Ovarian: <60%
Mutations in BRCA1 & BRCA2 cause hereditary breast and ovarian cancer. In the general population 0.254% of Non-Jewish people and 2% of Ashkenazi Jewish people will have a BRCA mutation. The estimated cancer risks associated with BRCA mutations vary however; BRCA1 mutations are estimated to cause up to an 85% lifetime risk of breast cancer and up to a 60% risk of ovarian cancer. Men with BRCA1 mutations may have a slightly increased risk of male breast cancer as well as approximately a 20% risk of prostate cancer. Women with BRCA2 mutations have up to a 90% lifetime risk of breast cancer and up to a 30% risk of ovarian cancer. Men with BRCA2 mutations have a 5-10% lifetime risk of developing breast cancer, and approximately a 40% risk ofprostate cancer. Individuals with BRCA2 mutations also have an increased risk of pancreatic cancer and possibly other cancers. Women with BRCA gene mutations should have breast MRI from age 30 years and annual mammogram from age 40 years. Ovarian cancer screening has not been shown to detect cancer sufficiently early to save lives and therefore some women may consider risk-reducing surgery. Men may benefit from prostate cancer screening with PSA testing. Occasionally, a baby will inherit two BRCA2 mutations and will therefore have the congenital condition known as Fanconi Anemia.
BRCA2 HBOC Breast: <90%
Prostate: ~40%
Ovarian: <30%
Mutations in BRCA1 & BRCA 2 cause hereditary breast and ovarian cancer. In the general population 0.425% of non-Jewish people and 2% of the Ashkenazi Jewish people will have a BRCA mutation. The estimated cancer risk associated with BRCA mutations vary, however, BRCA1 mutations are estimated to have up to an 85% risk of breast cancer and up to a 60% risk of ovarian cancer, while men with BRCA1 mutations have a slightly increased risk of male breast cancer and approximately a 20% risk of prostate cancer. Women with BRCA2 mutations have up to a 90% risk of breast cancer and up to a 30% risk of ovarian cancer Men with BRCA2 mutations have a 5-10% lifetime risk of developing breast cancer, and approximately a 40% risk of prostate cancer. Individuals with BRCA2 mutations also have an increased risk of pancreatic cancer and possibly other cancers. Women with BRCA gene mutations should have annual breast screening from the age of 30 onwards, including mammograms and breast MRI. Ovarian screening has not been shown to be beneficial and therefore some women may consider risk-reducing surgery. Men may benefit from prostate cancer screening with annual PSA testing from age 40. Occasionally, a baby will inherit two BRCA2 mutations and will therefore have the congenital condition known as Fanconi Anaemia.
BRIP1 Hereditary Ovarian Cancer Ovarian: ~10% BRIP1 has shown to cause an increased risk of ovarian cancer. The risk is estimated to be about 11 times higher than the general population with the majority (over 90%) occurring over the age of 50. Women with a BRIP1 mutation may wish to consider having their ovaries removed once they have been through the menopause.
CDH1 HDGC Breast: 39-60% HDGC causes a high risk of diffuse stomach cancer (83%) and lobular breast cancer (39-60%) as well as a probable increased risk of bowel cancer. Individuals with HDGC will be treated at a centre with expertise in the condition. Increased breast screening with annual breast MRI and mammograms will be recommended. Some people also consider gastrectomy (removal of the stomach) due to the increased risk of stomach cancer) and bowel screening may be suggested.
CHEK2 Hereditary cancer Breast: 25%
Prostate: moderate
Mutations in the CHEK2 gene are found in 4% of families with hereditary breast cancer and cause a moderately increased risk of breast cancer as well as a possibly increased risk of bowel cancer. Rarely individuals have been shown to carry 2 mutations in the CHEK2 gene which seems to cause a higher risk of breast cancer. Increased breast screening, and in some situations, bowel 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 consideration of risk-reducing surgery. There are also clinical trials looking into a new immunotherapy drug known as PD1 which appears to be particularly effective in Lynch syndrome related cancers.
HOXB13 Hereditary Prostate Cancer Prostate: 33 - 60% This gene has been found in 5% of prostate cancer families and causes an estimated 33-60% risk of prostate cancer.
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 1–3% 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 consideration of risk-reducing surgery. There are also clinical trials looking into a new immunotherapy drug known as PD1 which appears to be particularly effective in 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 1–3% 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 consideration of risk-reducing surgery. There are also clinical trials looking into a new immunotherapy drug known as PD1 which appears to be particularly 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 1–3% 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 consideration of risk-reducing surgery. There are also clinical trials looking into a new immunotherapy drug known as PD1 which appears to be particularly effective in Lynch syndrome related cancers.
MUTYH MUTYH Associated Polyposis Bowel: 43-100% MUTYH Associated Polyposis (MAP) 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. MAP causes multiple bowel polyps, an increased risk of bowel cancer and possibly other cancers. 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.
NBN Hereditary Breast Cancer Breast: 20-30% Mutations in NBN are thought to cause a moderately increased risk of breast cancer. Increased breast screening with mammography is recommended.
PALB2 Hereditary Breast Cancer Breast: 35-57% Mutations in PALB2 have been shown to cause an increased risk of breast cancer. The risk is  estimated to be approximately 35% although the risk is greater if there is a strong family history of breast  cancer (up to 57%) and our knowledge of PALB2 is rapidly increasing. Increased breast screening with mammography and MRI is recommended. PALB2 also causes an increased risk of pancreatic  cancer. Occasionally, a baby will inherit two 2 PALB2 mutations and will therefore have the congenital condition known as Fanconi Anemia.
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 1–3% 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, and consideration of risk-reducing surgery. There are also clinical trials looking into a new immunotherapy drug known as PD1 which appears to be particularly effective in Lynch syndrome related cancers.
PTEN Cowden’s syndrome Breast: <85%
Bowel: 9-16%
Cowden syndrome causes bowel polyps, benign skin lesions, benign breast disease, 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.
RAD51C Hereditary Ovarian Cancer Ovarian: ~10% RAD51C causes an increased risk of ovarian cancer. The risk of ovarian cancer has been estimated to be 6-8 times higher than the general population risk which is the equivalent of approximately 10% lifetime risk. Women with RAD51 mutations may wish to have risk reducing removal of the ovaries to lower their risk.
RAD51D Hereditary Ovarian Cancer Ovarian: ~10% RAD51D causes an increased risk of ovarian cancer. The risk of ovarian cancer has been estimated to be 6-8 times higher than the general population risk which is the equivalent of approximately 10% lifetime risk. Women with RAD51 mutations may wish to have risk reducing removal of the ovaries to lower their risk.
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%
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.
TP53 Li Fraumeni syndrome Breast: 85% by 60y Li Fraumeni syndrome is a relatively rare condition which causes a high risk of cancer in childhood and adulthood: approximately 1 in 5000 to 1 in 20000, people will have LFS. Li Fraumeni syndrome causes an increased risk of sarcomas, brain tumours, breast cancer (85% risk by age 60), adrenal cortical carcinomas and other cancers. Individuals with TP53 mutations have a 50% risk of developing some type of cancer by age 30 and a lifetime risk of up to 90%. Breast screening with MRI will be recommended. Individuals are also advised to avoid radiation as they have an increased radiation sensitivity.

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