| Gene |
Condition |
Main cancer risks |
About the condition |
| 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 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 & 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 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.
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 pathogenic BRCA variants vary. However women with pathogenic BRCA2 variants have up to a 90% risk of breast cancer and up to a 30% risk of ovarian cancer. Men with pathogenic BRCA2 variants have a 5-10% lifetime risk of developing breast cancer, and approximately a 40% risk of prostate cancer. Individuals with pathogenic BRCA2 variants also have an increased risk of pancreatic cancer and possibly other cancers. Women with pathogenic BRCA 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 pathogenic BRCA2 variants 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 pathogenic variant may wish to consider having their ovaries removed once they have been through the menopause. |
| 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.
|
| PALB2 |
Hereditary Breast Cancer |
Breast: 35-57%
Ovarian: 6%
|
Pathogenic variants 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 variants are also associated with an increased risk of ovarian cancer and may cause an increased risk of pancreatic cancer. Occasionally, a baby will inherit two 2 PALB2 pathogenic variants and will therefore have the congenital condition known as Fanconi Anemia.
|
| 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. If a pathogenic variant 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. |
| 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 RAD51C pathogenic variants 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 RAD51D pathogenic variants may wish to have risk reducing removal of the ovaries to lower their risk. |
