| Gene |
Condition |
Main cancer risks |
About the condition |
| ATM |
ATM Associated Cancer |
Breast: 17 - 60%
Prostate: moderate risk
|
Approximately 1 in 200 people (0.5%) will carry a pathogenic variant in the ATM gene. Individuals with a pathogenic variant 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 pathogenic variant 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. |
| BRCA1 |
HBOC |
Breast: <85% Prostate: ~20% Ovarian: <60% |
Pathogenic variants in BRCA1 & BRCA2 cause hereditary breast and ovarian cancer. In the general population 0.25% of Non-Jewish people and 2% of Ashkenazi Jewish people will have a pathogenic BRCA variant.
The estimated cancer risks associated with pathogenic BRCA variants vary. However pathogenic BRCA1 variants are estimated to cause up to an 85% lifetime risk of breast cancer and up to a 60% risk of ovarian cancer. Men with pathogenic BRCA1 variants may have a slightly increased risk of male breast cancer as well as approximately a 20% risk of prostate cancer. Women with pathogenic BRCA variants 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.
|
| BRCA2 |
HBOC |
Breast: <90%
Prostate: ~40%
Ovarian: <30%
|
Pathogenic variants in BRCA1 & BRCA 2 cause hereditary breast and ovarian cancer. In the general population 0.25% of non-Jewish people and 2% of the Ashkenazi Jewish people will have a pathogenic BRCA variant. The estimated cancer risk associated with BRCA pathogenic variants vary. However women with BRCA2 pathogenic variants have up to a 90% risk of breast cancer and up to a 30% risk of ovarian cancer Men with BRCA2 pathogenic variants have a 5-10% lifetime risk of developing breast cancer, and approximately a 40% risk of prostate cancer. Individuals with BRCA2 pathogenic variants also have an increased risk of pancreatic cancer and possibly other cancers. Women with BRCA gene pathogenic variants 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 pathogenic variants and will therefore have the congenital condition known as Fanconi Anaemia.
|
| CHEK2 |
Hereditary cancer |
Breast: 25%
Prostate: moderate
|
Pathogenic variants 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 an increased risk of prostate cancer and possibly bowel cancer. Rarely individuals have been shown to carry two pathogenic variants in the CHEK2 gene which seems to cause a higher risk of breast cancer. Increased breast or prostate 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.
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.
|
| 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 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. 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. 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 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. 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. |
| 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. 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. |
