Hereditary Breast and Ovarian Cancer
Information for women with an increased risk of breast and ovarian cancer
What is Hereditary Breast and Ovarian Cancer (HBOC)?
Hereditary Breast and Ovarian Cancer is a genetic condition which causes women in a family to have an increased risk of developing breast and ovarian cancer. In some families there also may be an increased susceptibility to other cancers, such as male breast cancer, prostate cancer, malignant melanoma and pancreatic cancer. If you have a history of breast and ovarian cancer in your family this leaflet may be relevant to you.
How do I know if the cancers in my family are due to HBOC?
HBOC is uncommon. Fewer than 1 in 20 women who develop breast cancer have HBOC. In most families cancer is not inherited or passed down through the generations. HBOC might be present in your family if:
- several women have had breast cancer or ovarian cancer or
- someone was diagnosed at a much younger age than is usual or
- a relative has had breast cancer more than once, or has had early breast and ovarian cancer or
- a male relative has had breast cancer or
- multiple generations on one side of the family were affected by these cancers.
In the UK, breast cancer affects 1 in 8 (12.5%) women during their lifetime. The great majority are diagnosed over the age of 50. Ovarian cancer is less common. About 1 in 50 (2%) women will develop ovarian cancer in their lifetime, usually after their menopause. Prostate cancer affects about 1 in 14 men (7%), but mostly those over the age of 70. The risk of male breast cancer is very small, about 1 in 1000.
How does HBOC run in families?
HBOC is caused by an alteration in a gene. Genes control the working of the body and come in matching pairs. One is inherited from the mother and the other from the father.
If someone has HBOC it means they have a normal gene but they also have an altered gene. Each time they have a child there is a 50% chance that they will pass on the normal gene and a 50% chance they will pass on the altered one.
Both women and men can have an altered gene, so HBOC can be inherited from either parent. Therefore, your father’s family history of cancer also matters.
HBOC is more likely in your family if at least three relatives on the same side of the family had early breast or ovarian cancer.
Which genes cause HBOC?
There are two genes which we know give rise to HBOC. They are called BRCA1 and BRCA2. There may be other important genes which have not yet been discovered.
What is the risk of developing breast and ovarian cancer?
A woman who inherits an altered BRCA1 or BRCA2 gene will not always get cancer but her risk of developing breast or ovarian cancer during her lifetime is greatly increased.
For women with a proven alteration in either BRCA1 or BRCA2, the risk of developing breast cancer before the age of 80 is approximately 80%. The risk of ovarian cancer is lower and is different for the two genes. The lifetime risk of ovarian cancer for a BRCA1 alteration is approximately 40-60%. For a BRCA2 alteration the risk is lower, about 10-30%.
These risk figures are only for those who are known to carry an alteration in BRCA1 or BRCA2. In BRCA2 families there is also an increased risk of prostate cancer and male breast cancer. The lifetime risk of prostate cancer is 20-25%, whereas for male breast cancer it is 5-10%.
Sometimes we can offer you a test to find out if cancers in your family are due to an altered BRCA1 or BRCA2 gene. A genetic test involves a family member who has had breast or ovarian cancer giving a blood sample. Before a gene test is carried out they need to carefully discuss it with their geneticist or genetic counsellor. If an alteration is found in someone with cancer it is then possible to offer gene testing to other family members to see if they inherited it. In many cases we will not be able to find a gene alteration. This means we are not able to offer a gene test to all families.
If a BRCA1 or BRCA2 alteration is identified it will allow other relatives to have a similar test to see if they also carry it. The results of these tests might be difficult to come to terms with. Also, there would be implications for cancer screening. Therefore, we would want to discuss the possible benefits and disadvantages of having a test before going ahead.
If you had a genetic test and were found to carry the gene alteration, we would discuss with you any options for screening and for reducing your risk. Alternatively, if you had a genetic test and it showed you did not carry the alteration your risk would not be increased and no extra screening would be suggested. However, we would still recommend you have breast screening provided by the NHS National Breast Screening Programme at the appropriate time.
If you decide not to have a genetic test we would not be able to confirm your actual risk of breast or ovarian cancer. We would still recommend extra breast screening. If other family members or their doctors would like further information or advice we would be pleased to help them.
What can you do if you are at increased risk?
If you are at increased risk of breast and ovarian cancer you have several options. Although you may have a high lifetime risk, your actual risk over the next 10 years will still be low, especially if you are under 30. Depending on your age and personal choices you might want to manage your risk differently to other family members.
Most women will be offered regular mammograms (x-rays of the breast). Sometimes the clinician will decide to use other types of examination including ultrasound scan or MRI of the breast because breast screening is difficult in younger women who tend to have denser breast tissue.
Depending on your personal risk, breast screening might be offered earlier than usual. If you are known to carry a BRCA1 or BRCA2 alteration it would be offered from the age of 30. Mammograms will sometimes detect changes in the breast which are harmless but might need further tests. It is also important to know that not all cancers will be picked up by screening. You should be ‘breast aware’ and report any unusual symptoms to your doctor as soon as possible.
Breast screening does not prevent the development of cancer. It is given in the hope of picking up cancer at an early stage where treatment is more likely to succeed.
Risk-reducing surgery of the breast
Double mastectomy (removal of both breasts) reduces the risk of breast cancer by at least 90%. However it involves major surgery with a risk of complications. It usually involves breast and plastic surgery teams.
Subcutaneous mastectomy involves removal of as much breast tissue as possible, including the nipple. There is a risk of interrupting the blood supply to the skin. Therefore, loss of some skin tissue is a recognised complication. An artificial nipple can be reconstructed later.
Simple (total) mastectomy involves removing most of the breast tissue and the skin. Reconstruction can be with an artificial or natural implant. Existing muscle or some fatty tissue can be used as a natural implant.
There are advantages and disadvantages to each procedure. You would be able to discuss these with the surgical team. They would also discuss the possible psychological implications with you.
If you have an increased risk of ovarian cancer we will suggest referring you to a gynaecologist. They will discuss various options with you, such as screening for cancer or removal of the ovaries. Unfortunately there is no convincing evidence to show screening for early signs of ovarian cancer is effective.
Depending on your local Gynaecology Service, you may be offered an internal (transvaginal) ultrasound scan every year and a blood test called CA125. This is the only method available at present, but these procedures are not proven to be reliable in picking up early cancers. A national study is evaluating the effectiveness of this. Some gynaecologists have now stopped offering this type of screening.
In pre-menopausal women screening is more complicated because normal ovaries produce small cysts each month before ovulation. This may complicate the picture so you might be recalled even if it turns out to be normal. Occasionally further investigations may be needed which can cause anxiety.
CA125 is not a cancer test but can detect changes in the ovaries. These changes might not be cancerous but may need further investigations. If offered, ovarian screening for women who carry an alteration in the BRCA1 or BRCA2 gene usually starts from the age of 35. It is important to remember that ovary screening is not the same as cervical screening (smear tests) which is done at your GP surgery.
It is advisable to consider the alternative option which is having your ovaries and fallopian tubes removed at an appropriate age. You can discuss this with your gynaecologist on referral.
Risk-reducing surgery of the ovaries (Oophorectomy)
Removal of the ovaries and fallopian tubes reduces the risk of ovarian cancer by more than 90%. In pre-menopausal women it also reduces the risk of breast cancer by at least a third. If performed in pre-menopausal women, oophorectomy causes an immediate menopause. This usually requires Hormone Replacement Therapy (HRT) until the age of natural menopause (around 50 years of age). HRT given in this way will not increase the risk of breast cancer.
The risk of womb cancer and cervical cancer does not appear to be increased in BRCA1 and BRCA2. Therefore, a full hysterectomy is not required unless you have other unrelated gynaecological problems. You might be offered keyhole surgery to remove your ovaries and tubes. You can get further advice about this from your Gynaecologist.
What about men in HBOC families?
Men in BRCA1 families are not thought to be at significantly increased risk of cancer. Some studies suggest there may be a slight increase in the risk of prostate cancer. Men in BRCA2 families have an increased risk of breast and prostate cancer. Breast screening is not recommended because the overall chance is still low, about 5-10%.
The increased risk of prostate cancer is debated but may be between 20 to 25% over a lifetime. We would suggest men at increased risk consider prostate screening from the age of 45. This involves a blood test to measure their PSA (prostate specific antigen) levels. PSA, is a protein produced by cells of the prostate gland. The PSA test measures the level of PSA in a man’s blood. The blood level of PSA is often higher in men with prostate cancer but a number of benign (not cancerous) conditions can cause a man’s PSA level to rise.
Does my risk change with age?
If you have not had breast/ovarian cancer and have not had a gene test, your chance of having a gene alteration gradually decreases as you get older. The risk to your children would also decrease.
Are there any symptoms I should look out for?
Diagnosing ovarian cancer can be difficult because symptoms are often similar to those caused by less serious common conditions. If you have any of the following symptoms it is unlikely they are due to a serious problem. It is still important that you discuss them with your doctor. Ask them if they have considered ovarian cancer.
In particular, you should ask your GP about ovarian cancer if you experience any of these three symptoms on most days:
- persistent pelvic and stomach pain
- increased abdominal size/persistent bloating - not bloating that comes and goes
- difficulty eating and feeling full quickly.
In most women, breast cancer is first noticed as a painless lump in the breast. Other signs may include:
- a change in the size or shape of a breast
- dimpling of the skin of the breast
- a thickening in the breast tissue
- a nipple becoming inverted (turned in)
- a lump or thickening behind the nipple
- a rash (like eczema) affecting the nipple
- a blood-stained discharge from the nipple (this is very rare)
- a swelling or lump in the armpit.
Pain in the breast is not usually a symptom of breast cancer. In fact many healthy women feel that their breasts feel lumpy and quite tender before a period. Some types of benign breast lumps can be painful. Often there are no outward signs of breast cancer that you can see or feel. Even if you do have one or more of these signs, it still doesn’t mean you have breast cancer. Most breast lumps turn out to be benign (not cancerous).
However, it is important that you tell your doctor immediately if you experience any worrying symptoms. Having your doctor take a look may ease your worry, and if anything is found, you’ll be able to take care of it quickly.
Useful websites for further information:
http://www.nhs.uk (NHS Choices)
Contact Patient Advice and Liaison Service (PALS) if you need confidential advice or support on: Freephone: 0800 0320202 Email: email@example.com
The Newcastle upon Tyne Hospitals NHS Foundation Trust is not responsible for the content of third-party information and does not endorse any product, view or process or opinion from such sources.
This leaflet is based, with permission, on a leaflet produced by the West Midlands Regional Genetics Service.
Publication Date: January 2016
Review Date: January 2019