Hereditary ovarian cancer: what women should know
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1 Hereditary ovarian cancer: what women should know Registered charity no Approved by
2 This information has been developed for women who may be concerned about the incidence of hereditary ovarian cancer. Ovarian cancer is much easier to treat successfully when diagnosed early, so it is important to be aware not only of symptoms of the disease, but also whether or not you may be at a greater than average risk. Facts about ovarian cancer Sue Slater Ovarian cancer is the fifth most common cancer in women, with around 6,700 cases each year in the UK. It is also the fourth most deadly cancer in women after breast, lung and bowel, with around 4,400 deaths each year. This means around 85 women die from ovarian cancer each week. The ovaries are buried deep in the pelvis, and are responsible for production of hormones such as oestrogen, and the source of a woman s lifetime supply of eggs, which are released each month. It is unclear what causes ovarian cancer, but it is thought to be a combination of genetic, lifestyle and inherited factors. The single biggest risk factor for the disease is age, with eight out of every ten cases occurring in women over the age of 50. Facts about hereditary ovarian cancer 5-10% of ovarian cancer cases are caused by an inherited faulty gene that can be passed down family lines, through both women and men. A carrier of a faulty gene has a 50% chance (one in two) of passing the gene on to each of their children. In particular there are two faulty genes that have been identified as causes of ovarian cancer named BRCA1 and BRCA2 (pronounced BRACCA); these same genes are responsible for hereditary breast cancer. Consequently, there are families where a number of relatives may develop ovarian, breast or both breast and ovarian cancer. Carrying a BRCA1 or BRCA2 gene fault can mean that a woman has up to a 80% lifetime risk of developing breast cancer, and between a 15 and 45 % lifetime risk of developing ovarian cancer. It can also increase the risk of prostate cancer in men. Could I be at risk? If you are not aware that a close blood relative carries either the BRCA or HNPCC genes, you could assess your risk by finding out more about your family history. There are three broad categories of risk: 1. Population (normal) risk Having a population or normal risk means you have the same risk as the general population of developing ovarian cancer (1 in 50 women), and do not have any close relatives (parents, children, siblings) with the disease. 2. Slightly increased risk Moderate family history This is where you have just one relative with ovarian cancer. This only very slightly increases your chance of inheriting the BRCA1 or BRCA 2 mutations, or other faulty genes associated with the disease. 3. Higher risk Strong family history This is when you have two or more relatives with ovarian cancer, both on one side of your family (your mother s or your father s), including someone who is a first degree relative (see below). You may also be in this group if you have a close relative with ovarian cancer and also a family history of breast cancer, bowel cancer and womb cancer (again on the same side), especially if diagnosed under the age of 50. Generally the cases of ovarian cancer need to occur in first and second degree relatives. First degree relatives: Your mother, sister, daughter, father, son, brother and Second degree relatives: Grandparents, grandchildren, aunts, uncles, nieces, nephews. These categories will help you and your GP decide if you may be at increased risk, and if so, discuss with you what options you might like to consider. These include referral to a specialist genetic clinic. It should be noted that having a high risk of developing breast or ovarian cancer does not necessarily mean that you will develop the disease. The BRCA mutations are found in the general population. However Ashkenazi Jewish, Icelandic, Norwegian, Dutch and Pakistani descendants have been shown through research to have more BRCA 1 and BRCA 2 gene faults. This is why it is important for people with this inheritance to know the facts about ovarian cancer and genetic predisposition. For more information on Ashkenazi hereditary ovarian cancer, you can request a copy of the Ashkenazi Inheritance: what you need to know about ovarian cancer by calling Hereditary Non-Polyposis Colorectal Cancer (HNPCC), another genetic condition, slightly increases the risk of a woman developing ovarian cancer. A female HNPCC carrier has a 10% lifetime risk of developing the disease. HNPCC is also associated with bowel, womb stomach, pancreas, biliary and bladder cancer. Sisters Jas Mayer and Manveer Malhi If you are concerned about your own family history, you should discuss this with your GP. They will want to know what cases of cancer (of any kind) have occurred, and at what age, in your first or second degree relatives. Your GP will discuss with you what options you might like to consider. These include referral to specialist genetic clinics, where you can find out more about genetic testing and discuss whether this is appropriate or acceptable to you, find out ways of being monitored, and ways of potentially reducing your risk of developing ovarian cancer. 2 funding research raising awareness giving a voice To find out more about Ovarian Cancer Action, visit 3
3 Genetic testing Advantages of taking such tests include: Genetic testing can pinpoint some of the mutations in inherited BRCA1, BRCA2 and HNPCC genes, and give an indication of whether a person has inherited a specific mutation from a parent. Genetic testing should generally only be done after talking to a genetics professional who can go through some of the complex issues, and how they might affect your decision. Types of genetic testing 1. Mutation searching This is where the gene is examined in its entirety to identify where the mutation occurs. This usually is best done using a blood sample from someone who has either breast or ovarian cancer, and who is thought to have a hereditary form of the disease. The mutation can occur in many hundreds of places within the gene, so without the position being identified in an affected relative, it is not possible to do an accurate test with other relations who have not developed the disease. 2. Predictive searching Once the position of the mutation within the gene is identified then other family members can be tested for that specific mutation which may or may not have been inherited. Finding out whether you have an inherited risk factor for the disease. Helping you or family members make decisions about what to do. Ensuring access, under the NICE (National Institute for Health and Clinical Excellence) guidance for familial breast cancer, to an enhanced programme of breast screening from an earlier age (screening normally starts once you are over 50 if you don t have an inherited form of breast cancer). Knowing the genetic reason why you have this disease may mean you can participate in future clinical trials, and if they prove successful, be able to receive targeted treatment. Disadvantages include: Many results are inconclusive, as opposed to negative. An inconclusive test does not lower your risk of developing the disease, and so may leave you with unanswered questions and concerns. Access to genetic testing Angela Walker Genetic testing is only appropriate and helpful in certain families with a history of ovarian cancer or breast cancer. If you would like to discuss genetic testing you should contact your GP who can provide information on local genetics services and refer you to a specialist genetic clinic if appropriate. Referrals to genetic clinics can only be made by your GP or hospital doctor. If you wish to find out details of your nearest specialist genetic clinic, look at the directory of UK genetics centres, available on the British Society for Human Genetics website: _centres.htm Genetic testing can also be obtained privately, and as with the NHS you should always seek genetic counselling, both before deciding to undertake the tests and after the results are available. Although there is a current ban on using genetic information for setting insurance premiums, it is not yet certain whether or not they could be used when insurance premiums are set in the future. It is important to recognise that other members of your family may have quite different views about being tested. It is not an easy or clear cut decision. Ovarian Cancer Voices Ovarian Cancer Voices 4 funding research raising awareness giving a voice To find out more about Ovarian Cancer Action, visit 5
4 Risk management and reduction For women identified as having a faulty gene, or those who have a strong family history of ovarian cancer, there are possible courses of action which research has shown to reduce the risk of developing the disease. It is important to discuss these with a specialist, to understand the issues, benefits and risks involved. They include: Gurbachan Johal The removal of the ovaries (known as an oophorectomy) which would bring on what is known as a surgically induced menopause. This can reduce the risk of developing the disease by around 90% if undertaken before the natural menopause. Use of oral contraceptive pill. This has been shown in studies to reduce the risk by up to 50%. The use of the oral contraceptive pill should be discussed with your GP, as it has been shown to increase the risk of breast cancer. Other factors which are thought to help protect against ovarian cancer (but to a lesser extent than the above measures) include maintaining a healthy weight, breast feeding children, and having several pregnancies. Screening for ovarian cancer As yet, there is no evidence to show that current screening tools are effective in improving survival rates, even in high risk families. A number of trials are underway which will provide evidence as to the effectiveness of such a screening programme. Symptom diary Our website includes useful information about how you can communicate effectively with your doctor. Download our symptom diary which will help you discuss your symptoms and will provide tips about how to get the best out of your doctor s appointment. symptom _diary.pdf Kate Willis Every woman should be aware of ovarian cancer. Recent research shows the importance of monitoring persistent and frequent symptoms to improve the chances of detecting the disease. Any woman experiencing any of the following symptoms on most days should ask their doctor to consider ovarian cancer. Persistent pelvic / stomach pain Increased stomach size Persistent bloating Difficulty eating Feeling full quickly Other less common symptoms include: urinary symptoms, change in bowel habits, excessive tiredness, and back pain. Full information can be found on our website and in our symptoms awareness leaflet. Call or info@ovarian.org.uk to request a copy. Useful sources of information Ovarian Cancer Action Website: Ovarian cancer symptoms awareness leaflet Ovarian Cancer Action symptom diary ( The Ashkenazi Inheritance: what you need to know about ovarian cancer Further copies of this leaflet Info line T: Breakthrough Breast Cancer Website: Leaflet Understanding a family history of breast cancer Info line T: funding research raising awareness giving a voice To find out more about Ovarian Cancer Action, visit 7
5 Ovarian Cancer Voices Ovarian Cancer Action in action: We have established the UK s first dedicated ovarian cancer research centre, led by Professor Hani Gabra at Hammersmith Imperial College, in collaboration with The Royal Marsden Hospital and the Institute of Cancer Research. We need your help to raise funds so that the Ovarian Cancer Action Research Centre can continue to expand. We are also currently funding research at University College London and Barts and the London Hospital. Over the past five years, we have played the leading role in raising awareness of the symptoms of ovarian cancer, based on peer-reviewed research. In February 2007, we were awarded the first ever government funding for a symptoms awareness campaign in GP surgeries in England, and appointed the first ever Healthcare Project Manager in the field, working to reduce delays in diagnosis and improve the patient pathway. Our Remember the Symptoms campaign featuring the actress Emilia Fox has won the support of the Royal College of GPs and the Royal College of Nursing. In October 2009 we launched Ovarian Cancer Voices. By working with women and families who have been affected by ovarian cancer, the charity can ensure that their voices are heard at national level. Ovarian Cancer Voices offers individuals the opportunity to; tell their story, raise awareness in their local community and comment on issues relating to diagnosis and treatment. voices@ovarian.org.uk for more information. If you would like further information visit our website or contact us on (Standard rate charges apply). Registered charity no Issue: February 2011 Design: 8 funding research raising awareness giving a voice
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