Breast cancer in families. This booklet explains what a family history of breast cancer is, and what this may mean for you or your family.

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1 Breast cancer in families This booklet explains what a family history of breast cancer is, and what this may mean for you or your family. Worried Lorem about ipsum breast dolore cancer estes

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3 Contents Introduction 4 The risk of breast cancer 5 Breast cancer risk factors 5 Different levels of risk 6 Finding out about your family history 8 At the appointment 8 What happens if I m at general population risk? 9 What happens if I m at moderate or high risk? 10 Genetic counselling 11 Genetic testing 11 Other considerations 13 Breast screening 14 Screening for women at moderate or high risk who haven t had breast cancer 14 Screening recommendations for women who have had breast cancer 16 Treatment to reduce the risk of breast cancer 17 Drug treatment 17 Risk-reducing surgery 17 In the future 19 Worries about having children in the future 19 Being breast aware 20 Your feelings 21 We re here for you 22 Useful organisations 23

4 4 Call our Helpline on Introduction If you or one of your close relatives has been diagnosed with breast cancer, you may have concerns about what this means for you and other members of your family. This booklet is for people who d like to know more about breast cancer in families. It outlines the main factors that affect the risk of developing breast cancer, whether having breast cancer in your family can affect your risk, and what to do if you re concerned about your family history. The booklet also explains how breast cancer risk from a family history is assessed and the options available for people depending on their level of risk. We hope this booklet answers your questions about breast cancer in families and helps you find further sources of information and support if you need them. Although this booklet is aimed mainly at women, much of the information is relevant to men.

5 Visit 5 The risk of breast cancer This section outlines what factors may affect someone s risk of breast cancer, and how a small number of people may have a higher risk of breast cancer because of a significant family history. Breast cancer risk factors Breast cancer is the most common cancer in the UK. Even if you have a relative with breast cancer, it doesn t necessarily mean you re more likely to develop it yourself. In fact, most breast cancers are not inherited and so don t increase the lifetime risk for other family members. Research suggests that breast cancer is caused by a combination of many different things. While it s not known exactly why some people get breast cancer and some don t, certain things are known to increase the risk. These are called risk factors. The three main risk factors for breast cancer are things that we can t do anything to change. These are: being a woman getting older having a significant family history. Being a woman is the biggest risk factor for developing breast cancer. In the UK, around 55,000 people are diagnosed with breast cancer each year, and of these about 400 are men. Age is the next most important risk factor. The older you are, the higher your risk. Most breast cancers (around 80%) occur in women over the age of 50. Most men who get breast cancer are over 60. A small number of people have an increased risk of developing breast cancer because they have a significant family history. A family history records past and present cancers of your blood relatives (people related by birth, not marriage) over several generations. This increased risk may be because they have inherited an altered (which may also be called faulty ) gene (see page 7). For more information on finding out about your family history, see page 8. You can also visit our website for more information about the risk of breast cancer.

6 6 Call our Helpline on Different levels of risk Breast cancer risk is usually classed in one of three groups, and you may hear these groups referred to in a number of different ways. General population risk This may also be called average or near population risk. Your risk is the same as or very similar to that of the general population. If only one person in your family has been diagnosed with breast cancer over the age of 40, you re likely to be at population risk. As mentioned earlier, most breast cancers are not inherited and so do not increase the lifetime risk for other family members. Moderate risk This may also be called familial or raised risk. Your risk is higher than the general population, but it s still more likely that you won t get breast cancer as a result of your family history. A woman at moderate risk may have several relatives with breast cancer but no obvious pattern of the disease. In these families, although breast cancer may affect people in several generations, they tend to be affected at older ages. A woman may also be considered at moderate risk if she has one close relative who developed breast cancer under the age of 40. High risk This may also be called hereditary or increased risk. People in this category are more likely than those with a moderate risk to develop breast cancer but this doesn t mean they definitely will. Women and men at high risk usually have several close relatives with breast cancer, ovarian cancer or both over several generations for example grandmother, mother and daughter who are often diagnosed at a young age.

7 Visit 7 Women and men at high risk may have inherited an altered gene that increases the risk of breast cancer. About 5% of all people diagnosed with breast cancer have one of these genes. The most common altered genes that increase the risk of breast cancer are called BRCA1 (BReast CAncer1) and BRCA2 (BReast CAncer2). Another gene called TP53 (Tumour Protein53) also increases the risk, although this is much rarer. Having a BRCA1, BRCA2 or TP53 gene increases your risk but doesn t necessarily mean you ll get breast cancer. If you re concerned about your risk of developing breast cancer, it s important to get professional advice tailored specifically to you and your family. By getting details of your family history (see page 8), healthcare professionals can assess whether your risk of breast cancer is higher because of your family history.

8 8 Call our Helpline on Finding out about your family history If you re concerned about your family history, the first step is to talk to a healthcare professional. Who you see first will depend on your situation. You can talk to your GP (local doctor), who may check your family history and may refer you to a specialist family history clinic or a regional cancer genetics centre. If you have breast cancer yourself you can speak to a member of your specialist breast care team who may be able to refer you directly to a genetic counsellor or clinical geneticist. If your family history suggests that you are at moderate or high risk or if another family member has already had their risk assessed, you re likely to be referred directly to a specialist family history clinic or regional cancer genetics centre. Here you ll have further assessment of your family history and be given tailored information, including looking at the different ways of managing your risk. You should be referred for further assessment if you have: one close relative who has had breast cancer before the age of 40 two or more close relatives who have had breast cancer close relatives who have had breast cancer and others who have had ovarian cancer one close relative who has had breast cancer in both breasts (bilateral breast cancer) a male relative who has had breast cancer Ashkenazi Jewish ancestry. At the appointment Wherever you re referred, you ll be asked about any type of cancer in all your blood relatives on both sides of your family. This includes your mother and father, sons and daughters, brothers and sisters, aunts and uncles, nieces and nephews, cousins, grandparents, great uncles and great aunts. Try to find out as much about your family history as you can from other relatives before your appointment. You may be asked to do this by questionnaire before being offered an appointment or you may be asked in the clinic. The person taking your family history will understand if you can t find all the relevant information.

9 Visit 9 You ll be asked about: how the people with cancer are related to you (for example mother, father, sister, brother, cousin on father s side) how the people with cancer are related to each other how old each person was when diagnosed where in the body the cancer started whether the same family member has had more than one cancer (including cancer in both breasts) your ethnic background. If you re adopted or don t have information about your biological family, your risk assessment can only be based on whatever information you have. Remember that healthcare professionals can t say for sure whether you ll develop breast cancer, and your risk may change over your lifetime, for example if a close relative develops breast cancer in the future. Whatever your breast cancer risk is, you ll be offered information and support that s relevant to your individual needs. What happens if I m at general population risk? If your risk is the same as or very similar to the general population, it s still important to be breast aware and go back to your GP if you notice any changes in your breasts. You can find out more about being breast aware in our booklet Your breasts, your health: throughout your life. It s also important to go back to your GP if your family history changes for example if another relative develops breast or ovarian cancer. From the ages of 50 to 70 you ll be invited for routine breast screening every three years (in England this age range is planned to increase to by the end of 2016). After the age of 70, you can refer yourself every three years by contacting your GP or your screening centre directly.

10 10 Call our Helpline on What happens if I m at moderate or high risk? If your family history assessment suggests that you re at moderate or high risk of developing breast cancer in the future, you re likely to be offered some of the options described in the following pages. Finding out that you re at moderate or high risk can cause many different emotions. You may feel more anxious about your breast health, or afraid of what the future holds for you as you approach the age at which a relative was diagnosed. All cancer genetics centres have genetic counsellors who you can talk to about how you re feeling. There are also a number of organisations that may be able to support you during this time (see Useful organisations on page 23).

11 Visit 11 Genetic counselling If you re considered to be at high risk of developing breast cancer, have a complex family history or if further investigation into your family history would be helpful in understanding your risk, you will be offered a genetic counselling appointment at a regional cancer genetics centre. You ll meet with a genetic counsellor (a healthcare professional with specialist knowledge about genetics and inherited illnesses) or a clinical geneticist (a doctor with specialist training in genetics). They can help you understand more about your family history, your risk of developing breast cancer and the options that may be available to you, such as genetic testing and screening, and drug treatments and surgery to reduce the risk of cancer. Any discussions about genetic testing, its implications and the possible outcomes often happen over several visits. If you don t know the answers to some of the questions you are asked at the meeting, you may need to go away and find out more about your family history. It may also be worthwhile writing down any questions you have before your appointment, so you don t forget anything important. You may also want to take a friend or family member with you for support during your visit. For many people, genetic counselling can be a very emotional time. You may feel anxious talking about your risk or your family s risk and what this means to you and those around you. Your genetic counsellor will have a lot of experience in this field and will be able to offer you support if you need it. Genetic testing Following your appointment with a genetic counsellor or clinical geneticist, genetic testing may be an option for you and other members of your family. Only a few people will be offered genetic testing and, even if it is an option for you, you may choose not to be tested. In the NHS, genetic testing is only available through a genetics centre and following genetic counselling.

12 12 Call our Helpline on First stage diagnostic test/full screen (search for an altered gene) This involves taking blood from someone in your family who has already been diagnosed with breast cancer or ovarian cancer and checking this for altered genes. If you have been diagnosed with breast cancer then the blood can be taken from you. The results from this test are usually available within two months. If you haven t had breast cancer and no one in your family who has had a diagnosis is available for testing, you may be able to have the test yourself. Your genetic counsellor will be able to tell you if this option is available. It can be hard to find an altered gene, and sometimes a genetic test doesn t produce a definite result. This means there may be an altered gene somewhere, but it hasn t been found because of the limits of today s technology. Your genetics team will advise you and family members how to interpret the results of this first test. Second stage predictive genetic test If an altered gene is found during the diagnostic test/full screen, it means that a genetic test is available for other relatives to see whether they also carry the altered gene. This is called a predictive test. The result of a predictive test usually takes about four weeks. If the predictive genetic test shows that you don t have the altered gene (a negative result), your risk of developing breast cancer is the same as other women in the general population (see page 9). This also means you won t have to worry about your children having an altered gene. If you re found to carry an altered breast cancer gene (a positive result), you will be offered regular screening, drug treatments or risk-reducing surgery. Having an altered gene doesn t necessarily mean you ll go on to develop breast cancer. However, you do have a higher risk of developing it than people without an altered gene. If you have children, there is a 50% chance that they have inherited the gene, but any further assessment on children is not usually done until they are 18 years old or over.

13 Visit 13 Other considerations Insurance Currently, if you ve had a predictive genetic test for breast cancer you don t have to disclose the result when you apply for insurance, such as life or health insurance (under a certain amount). However, insurance companies do ask about your family s medical history and if you have a significant family history of breast cancer you may be charged a higher premium. If you would like more information about genetic conditions and insurance, Genetic Alliance UK has produced information guides on genetics and insurance (see Clinical trials There are several clinical trials underway to find out more about breast cancer and family history. If you have genetic counselling it s possible that you ll be offered the chance to take part in one of these trials. For more information on clinical trials in general see our website.

14 14 Call our Helpline on Breast screening If you re at moderate or high risk of breast cancer, you may be offered regular scans and/or x-rays to check for breast cancer. This is known as screening. The type of screening you ll be offered will depend on your age and your level of risk. This may include a (a breast x-ray) or an MRI (magnetic resonance imaging) scan. MRI uses magnetism and radio waves to produce a series of images of the inside of the body. The following breast screening recommendations are based on guidelines produced by the National Institute for Health and Care Excellence (NICE), an independent organisation which provides evidenced-based national guidance on ways to prevent, diagnose and treat ill health. See Further reading on page 25 for details of the NICE guidelines for people with a family history of breast cancer. Screening recommendations for women at moderate or high risk of breast cancer, and who haven t had breast cancer The guidelines on page 15 apply to people in England and Wales. Screening recommendations in Scotland and Northern Ireland may be slightly different, and your genetics team can give you more information about this. In the UK, women between the age of 50 and 70 are offered s every three years as part of a national screening programme (in England this age range is planned to increase to by the end of 2016). After the age of 70 you can refer yourself every three years by contacting your GP or your screening centre directly. Men are not offered screening, even if they are gene carriers. This is because even though a man s risk for developing breast cancer increases, the risk is still less than women in the general population.

15 Visit 15 Risk group Age (years) Moderate High High with more than 30% chance of a faulty BRCA gene High with a faulty BRCA1 or BRCA2 gene High with more than 30% chance of a faulty TP53 gene High with a faulty TP53 gene None None None None Yearly MRI Yearly MRI None You may have a yearly Yearly MRI and possibly yearly Yearly MRI and possibly yearly Yearly MRI Yearly MRI Yearly Yearly Yearly and yearly MRI Yearly and yearly MRI Yearly MRI Yearly MRI You may have a yearly Yearly Yearly MRI* if shows dense breasts Yearly MRI* if shows dense breasts Mammogram as part of the NHS screening programme MRI* if shows dense breasts You may have yearly MRI Mammogram as part of the NHS screening programme Mammogram as part of the NHS screening programme Mammogram as part of the NHS screening programme MRI* if shows dense breasts Yearly MRI* if shows dense breasts Mammogram as part of the NHS screening programme MRI* if shows dense breasts You may have yearly MRI 70+ Mammogram as part of the NHS screening programme Mammogram as part of the NHS screening programme Mammogram as part of the NHS screening programme Mammogram as part of the NHS screening programme Mammogram as part of the NHS screening programme None Table National Institute for Health and Care Excellence 2013 *If the breast tissue is dense the image may be less clear so an MRI scan will also be used

16 16 Call our Helpline on Screening recommendations for women who have had breast cancer If you remain at high risk of another breast cancer you should be offered: yearly MRI scans if you re aged yearly s if you re and don t have an altered TP53 gene s as part of a national screening programme if you re 70 or over and don t have an altered TP53 gene. You may be offered yearly MRI scans if you re years old, have had breast cancer and have a faulty TP53 gene. Information about screening Your specialist team should give you information about the possible benefits and risks of screening. You can also read more about these in our booklet Your breasts, your health throughout your life.

17 Visit 17 Treatment to reduce the risk of breast cancer If you re at moderate or high risk of breast cancer, your healthcare professional should talk to you about the possibility of treatment to reduce your risk. You should be told about all the possible risks and benefits of these treatments, and how much they may reduce your risk of breast cancer. Drug treatment Research has shown that treatment with drugs called tamoxifen or raloxifene for five years can help reduce the risk of developing breast cancer by up to 40% in women at moderate or high risk. Tamoxifen is usually used as a treatment for breast cancer, and raloxifene is used to treat or prevent osteoporosis (bone thinning) after the menopause. Women at moderate or high risk of breast cancer who haven t yet been through the menopause (pre-menopausal) should be offered tamoxifen if appropriate. Women at moderate or high risk who have been through the menopause (post-menopausal) should be offered tamoxifen or raloxifene. Your healthcare professional will talk to you about the possible benefits and side effects before you make a decision. For more information about the side effects of tamoxifen, see our Tamoxifen factsheet. Risk-reducing surgery Surgery to remove both breasts If you re at high risk of developing breast cancer, your healthcare professional should discuss the possibility of surgery to reduce your breast cancer risk. Risk-reducing surgery involves removing both breasts. This type of surgery is called a bilateral mastectomy. A bilateral mastectomy can significantly reduce the risk of developing breast cancer by 90 95%, but it cannot completely remove the risk.

18 18 Call our Helpline on You ll usually be offered reconstruction of both breasts at the same time as a bilateral mastectomy. Reconstruction surgery rebuilds the breast shape using an implant and/or tissue from another part of the body. For more information see our Breast reconstruction booklet. Your healthcare professional should discuss with you all the possible risks and benefits of having risk-reducing surgery. You may also find it helpful to read Macmillan Cancer Support s Understanding risk-reducing breast surgery booklet (see be.macmillan.org.uk). Surgery to remove both ovaries and fallopian tubes Women who carry an altered gene are also at higher risk of developing ovarian cancer. Having the ovaries and fallopian tubes removed by surgery before the natural menopause has been shown to reduce the risk of ovarian cancer by up to 95%. It can also reduce the risk of breast cancer by 50%. This type of surgery is known as a bilateral salpingo-oophorectomy. When discussing removal of the ovaries and fallopian tubes your specialist may also discuss removing the womb at the same time. This is called a total hysterectomy. If you re younger than 50 when you have a risk-reducing salpingooophorectomy, your specialist will suggest that you take hormone replacement therapy (HRT) for a short time to help with any menopausal symptoms as a result of your surgery. There is good evidence that doing this will not affect the breast cancer risk reduction gained from having the surgery.

19 Visit 19 In the future It s important to go back to your GP if your family history changes for example if another relative develops breast or ovarian cancer. If necessary you may then be referred to a breast or genetics clinic for further assessment and observation. Worries about having children in the future Some couples are concerned about passing an altered breast cancer gene to future children. If you are planning a family or are already pregnant, your genetic counsellor will be able to talk through the options that might be available to you and your partner. Pre-natal diagnosis (PND) There are two procedures which can look for a known altered gene while you are pregnant chorionic villus sampling (CVS) or amniocentesis. Both of these procedures are done by a doctor specialising in foetal medicine (the care of babies while they re still in the womb). However, at present these two procedures are not standard care and are not available or suitable for every gene carrier. Pre-implantation genetic diagnosis (PGD) If you re thinking about becoming pregnant, you may want to talk to your genetic counsellor about pre-implantation genetic diagnosis (PGD). PGD involves going through an in-vitro fertilisation (IVF) cycle where the embryos that are produced can be checked for the known affected gene before being transferred into the womb. Only embryos that do not carry the breast cancer gene can be transferred. Planning a family is a very personal decision. You may also wish to find more information from: the Genetic Alliance UK (www.geneticalliance.org.uk, formerly the Genetic Interest Group GIG) the Human Fertilisation and Embryology Authority (www.hfea.gov.uk).

20 20 Call our Helpline on Being breast aware Whatever your level of risk, it s important to remain breast aware so that you can feel more confident about noticing breast changes that are unusual for you. The sooner breast cancer is diagnosed, the more effective treatment may be. By being breast aware you ll get to know how your breasts look and feel, so you know what is normal for you. If you notice a change, see your GP or breast specialist. You can find out more about being breast aware in our Your breasts, your health throughout your life booklet.

21 Visit 21 Your feelings Concerns about inheriting breast cancer are common among women who ve had relatives with breast cancer. Finding out that you re at increased risk of developing breast cancer can cause many different emotions. You may feel more anxious about your breast health, or afraid of what the future holds for you as you approach the age at which a relative was diagnosed. Breast cancer not only affects you but also your relationships with other members of your family. If you have children you may find that you have concerns about their health or new anxieties about having children. All cancer genetics clinics have genetic counsellors who you can talk to about how you re feeling. There are also a number of organisations that may be able to support you during this time (see Useful organisations on page 23). Breast Cancer Care s services, including our Helpline and Ask the Nurse service, also offer information and support to anyone concerned about breast cancer in families.

22 22 Call our Helpline on We re here for you If you re worried about breast cancer in your family or you ve been diagnosed with breast cancer yourself, our free information and support services are here to help on the phone or online. Ask us Calls to our free Helpline are answered by specialist nurses and trained staff with personal experience of breast cancer. They ll understand the issues you re facing and can answer your questions. Or you can Ask the Nurse by instead via our website. Free Helpline (Text Relay 18001) Monday Friday 9am 5pm, Saturday 10am 2pm Expert information Written and reviewed by healthcare professionals and people affected by breast cancer, our free booklets and other information resources cover all aspects of breast cancer and breast awareness. Download or order booklets from our website or call the Helpline. Talk to someone who understands Whether you ve been diagnosed yourself or are worried about breast cancer, you can chat to other people in your situation on our online discussion Forum. It s easy to use, professionally moderated and available to read any time of day. And if you ve been diagnosed with breast cancer, our Someone Like Me service can put you in contact with someone else who s had breast cancer and who s been fully trained to help. This can be over the phone or by . Find out more about all of our services for people with breast cancer at or phone the Helpline.

23 Visit 23 Useful organisations BRCA Umbrella Website: Support and social network for people with a BRCA gene, those at high risk of hereditary cancer, and their family and friends. Includes a BRCA support group, blog, chat and forum. FORCE (Facing Our Risk of Cancer Empowered) Website: Organisation dedicated to improving the lives of people and families affected by hereditary breast and ovarian cancer. Based in the US, but there s also a UK network, which provides information and support for people with a BRCA gene and their families. National Hereditary Breast Cancer Helpline Website: Helpline: Provides help and information for people concerned about their family history of breast cancer, and has a database of women prepared to share their own experiences with others. Ovacome Website: Support line: Charity that provides support and information for women affected by ovarian cancer, their families and friends.

24 24 Call our Helpline on Ovarian Cancer Action Website: Helpline: Charity which funds research and provides information and support to women with ovarian cancer. Macmillan Cancer Support 89 Albert Embankment, London SE1 7UQ Website: General enquiries: Helpline: Textphone: or Text Relay Macmillan Cancer Support provides practical, medical, emotional and financial support to people living with cancer and their carers and families. It also funds expert health and social care professionals such as nurses, doctors and benefits advisers.

25 Visit 25 Further reading Genetic Alliance UK (2010) A guide to life insurance Genetic Alliance UK (2010) A guide to travel insurance Macmillan Cancer Support (2012) Understanding risk-reducing surgery National Institute for Health and Care Excellence (NICE) (2013) Familial breast cancer (breast cancer in the family) The Royal Marsden NHS Foundation Trust (2013) A beginner s guide to BRCA1 and BRCA2

26 We re here for you: help us to be there for other people too If you found this booklet helpful, please use this form to send us a donation. Our information resources and other services are only free because of support from people such as you. We want to be there for every person facing the emotional and physical trauma of a breast cancer diagnosis. Donate today and together we can ensure that everyone affected by breast cancer has someone to turn to. Donate by post Please accept my donation of 10/ 20/my own choice of I enclose a cheque/po/caf voucher made payable to Breast Cancer Care Donate online You can give using a debit or credit card at My details Name Address Postcode address We might occasionally want to send you more information about our services and activities Please tick if you re happy to receive from us Please tick if you don t want to receive post from us We won t pass on your details to any other organisation or third parties. Please return this form to Breast Cancer Care, Freepost RRKZ-ARZY-YCKG, 5 13 Great Suffolk Street, London SE1 0NS

27 Visit 27 About this booklet Breast cancer in families was written by Breast Cancer Care s clinical specialists, and reviewed by healthcare professionals and people affected by breast cancer. For a full list of the sources we used to research it: Phone You can order or download more copies from For a large print, Braille, DAISY format or audio CD version: Phone Breast Cancer Care, March 2014, BCC32 Edition 3, next planned review 2016

28 Breast Cancer Care is the only UK-wide charity providing specialist support and tailored information for anyone affected by breast cancer. Our clinical expertise and emotional support network help thousands of people find a way to live with, through and beyond breast cancer. Visit or call our free Helpline on (Text Relay 18001). Central Office Breast Cancer Care 5 13 Great Suffolk Street London SE1 0NS Phone: Centres London and South East of England Phone: Wales, South West and Central England Phone: East Midlands and the North of England Phone: Scotland and Northern Ireland Phone: Registered charity in England and Wales Registered charity in Scotland SC Registered company in England Worried about breast cancer

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