FAMILY HISTORY SERVICES Your guide to UK services for people with a family history of breast cancer

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1 FAMILY HISTORY SERVICES Your guide to UK services for people with a family history of breast cancer

2 About Breakthrough Breakthrough Breast Cancer is a pioneering charity dedicated to the prevention, treatment and ultimate eradication of breast cancer. We fight on three fronts: research, campaigning and education. Our aim is to bring together the best minds and rally the support of all those whose lives have been, or may one day be, affected by the disease. The result will save lives and change futures by removing the fear of breast cancer for good. It costs 20 million per year for us to continue our work in research, campaigning and education. Every penny counts, so if you d like to make a donation and join us in a future free from the fear of breast cancer visit breakthrough.org.uk/donate. Future online guide to family history services We are publishing a new online version of this guide in Look out for news on our website: breakthrough.org.uk/familyhistory Your guide to UK services for people with a family history of breast cancer

3 CONTENTS Introduction 2 DOCTOR PATIENT PARTNERSHIPS 4 Introduction to genetics What is familial breast cancer? 7 What are genes? 8 Breast cancer genes 9 How common is familial breast cancer? 11 Finding out about your family history What is a family history of breast cancer? 13 Definitions of a family history of breast cancer 15 Referral to family history or genetics services 18 Do I have a family history of breast cancer? 20 Genetic counselling 24 Risk assessment 25 Genetic testing 29 Information and support 41 Early detection of breast cancer Breast awareness 45 Breast screening 47 Managing your risk of breast cancer Breast cancer risk factors 54 Risk-reducing surgery 59 Risk-reducing drugs 63 More support and information Insurance and genetic test results 65 Some technical terms explained 68 Support groups and other sources of information 70 Regional genetics centres 72 Guidelines 75 Information about this publication 76 YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 1

4 INTRODUCTION Breast cancer is now the most commonly diagnosed cancer in the UK, with nearly 50,000 women and around 400 men diagnosed each year. Of all women who develop breast cancer, about one in five (10,000) has a significant family history of the disease. Of these, around a quarter or 2,500 patients each year may have inherited faults in known breast cancer genes, eg BRCA1 and BRCA2. A further 5,000 to 7,500 people each year are believed to be affected by other genetic factors linked to breast cancer; however, the specific genes involved are not yet known. If there is a history of several breast or certain other cancers (especially ovarian cancer) in your family, this may increase your risk of developing the disease, and possibly at a younger age than is usually expected. It does not, however, mean that you ll definitely get breast cancer since other factors, such as your lifestyle and the environment you live in, also play a part. Breakthrough Breast Cancer believes that everyone who has a family history of breast cancer should have access to information about their options. The main aim of this guide is to help you work effectively in partnership with your doctor to develop a clear view of what is best for the management of your risk of breast cancer. This guide differs from other information about genetics and breast cancer in four main ways. It sets out, in one place, how breast cancer risk and genetics services should be managed, based on the latest available evidence. It includes information from documents and official guidelines used by health professionals, with an explanation of what it means for you. It explains why you might be offered certain tests and risk-reducing treatments, and what to expect if you choose to have them. It equips you to have informed discussions with your healthcare team, eg doctors, nurses and genetic counsellors, so you are able to play as full a part in decision making about your options as you would like. 2 Your guide to UK services for people with a family history of breast cancer

5 People look for information about family history, genetics and breast cancer for different reasons. Some have been diagnosed with breast cancer, either recently or in the past, others have family members who have had breast cancer or who have been confirmed to be at high risk of developing breast cancer in the future. Not all the sections of this publication will be relevant to everyone. The following diagram should give you an indication of where to find the information that will be most useful for you, based on your situation. A glossary of terms is included at the end of this guide (page 68). I have breast cancer I have had breast cancer I have not had breast cancer Members of my close family have had breast cancer A member of my family has a fault in a breast cancer gene What is a family history? page 13 Genetic inheritance page 8 Risk assessment page 25 Genetic testing page 29 Risk-reducing options (drugs and surgery) page 59 and 63 Breast screening page 47 Insurance rights page 65 YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 3

6 Doctor Patient PartnershipS Barbara Seddon Breast nurse practitioner (Family History Clinic), Royal Bolton Hospital As a nurse at a family history clinic I see first hand how important it is that people receive the right information about their breast cancer risk and how important it is that they know how to manage their risk. As health professionals, we use the best available evidence from research and clinical experience to assess what a person s breast cancer risk might mean for them and how their risk can best be managed. Medical experts bring together this expertise and evidence into national guidelines, which are used by healthcare professionals to make sure all people with the same level of risk are offered similar options. This guide puts all this information together in one place, including the expert advice contained in the professional guidelines (page 75) along with the experiences of women themselves so women and men with a family history of breast cancer can have to hand their own guidelines to help them navigate NHS services. However, please bear in mind that clinical guidelines are not a rigid list that all centres will follow, because different people and local circumstances will vary. Links between your GP and family history and genetics services might be set up differently in different areas, but in every case they should be clearly laid out. This publication will help you find out what you need to know about the services in your area it s an essential resource to help you to work with your genetics and family history team. 4 Your guide to UK services for people with a family history of breast cancer

7 Celia Webber Breakthrough supporter After losing close members of my family to ovarian cancer, when I was diagnosed with breast cancer myself I wanted to be proactive and do something about it. Since my diagnosis, I ve found that there is a genetic fault running through my family. For me, finding out about my family history of breast cancer was a major thing to happen in my life and it changed my life completely. In many ways I m very grateful that I did, it was the incentive to get on and do things. I believe passionately that women who are at increased risk of developing breast cancer should be able to access the vital services they need, both to find out their own risk and to get the most appropriate breast screening, so that if cancer does develop, it is caught early. This guide gives all the information anyone needs to find out about their family history of breast cancer. From my point of view, I wanted to know as much information about my family history and my risk as possible. Everyone is different, but I found the more information I had the better, as I could deal with it with some control over what was happening to me. This is an essential resource for everyone who has questions about their family history of breast cancer. The more people who know, the more people who understand, the better chance we have of beating this disease. Celia Webber YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 5

8 What are genes and how are they linked to breast cancer? INTRODUCTION TO GENETICS

9 What is familial breast cancer? WHAT IS FAMILIAL BREAST CANCER? Familial breast cancer is cancer that occurs more frequently within a family than would be expected in the general population. See page 13 for more information about a family history of breast cancer. See page 54 for more information about breast cancer risk factors. Most cases of breast cancer are not familial and occur when there is either no family history or only one case in older relatives, which would be expected to occur by chance. This is referred to as sporadic breast cancer. Familial breast cancer is different from sporadic breast cancer because: Your family history means that the likelihood of you developing breast cancer can be estimated. You, or members of your family, may be at an increased risk of developing breast cancer, and at an earlier age, compared with the general population. This means that you may be anxious about breast cancer even while not affected by the disease. Worries can be for yourself or for other members of your family, and this can affect many aspects of your life. We can t always say what causes breast cancer, but the increased risk of breast cancer for those with a family history of the disease might be caused by inherited factors (genes) or a combination of inherited, lifestyle and environmental factors. YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 7

10 INTRODUCTION TO GENETICS WHAT ARE GENES? Cells in the human body contain chromosomes, which are made up of strands of DNA. Specific sequences of DNA in particular sections of the chromosomes are called genes. Human cells contain about 20 25,000 genes and each gene provides instructions to tell the cell how to function. The instructions that a cell requires depends on what type of cell it is. You can imagine that a muscle cell will need different instructions to a brain cell, and likewise a brain cell to a breast cell. Genes are responsible for how your body develops, looks and works. Your genes are unique to you nobody else has the same set of genes, unless you have an identical twin. Humans have 22 pairs of chromosomes plus the sex chromosomes (XX and XY), so have two copies of each gene, one on each chromosome. HOW ARE GENES INHERITED? Genes run in families and are passed on to you from your parents. Everyone has two copies of every gene. You will have inherited one copy of each of your genes from your mother and one copy from your father. This is how characteristics, including family resemblance and an increased risk of a disease, are passed down from one generation to the next. Depending on the combination of genes you inherit you will end up with some traits that resemble your mother and others that resemble your father. DNA is made up of small building blocks, which are arranged in a particular order. Since all genes are made up of DNA it is a change in the sequence of this DNA that leads to a fault in the gene. We all carry a number of faults in our genes, but only some of these will alter the way the gene functions. 8 Your guide to UK services for people with a family history of breast cancer

11 Breast cancer genes BREAST CANCER GENES When people talk about familial breast cancer they often talk about inheriting faults in one of the breast cancer genes: BRCA1, BRCA2 and TP53. For more information about TP53 see page 29. There are also other genes that can affect a person s risk of developing breast cancer; however, little is known about them and we don t usually test for them at present. Research is continuing into what role these other genes might play. Everyone has two copies of each gene and faults in the breast cancer genes BRCA1, BRCA2 and TP53 are associated with a high risk of developing breast cancer. Faults in the genes are rare and so many people with a family history of breast cancer won t have a fault in one of these genes. When a person is found to carry a fault or mutation in a BRCA gene, this means they have one faulty copy and one normal copy of the gene. Regardless of whether or not they have had, or develop, cancer there is a chance that this person may pass the faulty copy on to their children. WHAT IS THE CHANCE OF INHERITING A FAULT IN A BRCA GENE? The children of a person carrying a fault in the BRCA1 or BRCA2 gene have a one in two (or 50%) chance of inheriting that fault. This is because they inherit one gene copy from each parent, and they are as likely to inherit the normal copy as they are to inherit the faulty copy. This one in two chance is for each child, male or female. If you are a carrier of a gene fault and have two children, that doesn t mean that one will inherit a faulty BRCA gene and one won t each has a one in two chance of inheriting the faulty gene. Parents Inheritance of BRCA gene Bb bb Bb = one copy of faulty BRCA gene (increased risk) bb = both copies normal BRCA gene (population risk) Children Bb bb Bb bb Possibilities of inheritance YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 9

12 INTRODUCTION TO GENETICS What women say We were surprised that the gene was inherited through my grandfather s line we didn t realise this could affect the men in the family as well. Breakthrough supporter It is important to remember that if you have inherited a faulty BRCA gene it does not mean that you have inherited breast cancer. You have inherited a high risk of developing breast cancer, which means you are more likely to develop the disease than people who do not have a BRCA fault. Since BRCA genes are inherited from both parents, faults in these genes can pass down the male or the female line of the family. This means that, for example, a daughter can inherit a faulty BRCA gene from her father, even if her father has not had breast cancer. In addition, a faulty gene cannot skip a generation, although some relatives who carry the faulty gene may not develop cancer. The table below shows on average how likely someone is to inherit a faulty BRCA gene depending on which of their relatives is found to be carrying a BRCA gene with a fault. These figures are only estimates, however, and the likelihood may vary depending on a person s particular family history of breast cancer. RELATIVE WHO HAS A FAULTY BRCA GENE CHANCE THAT YOU ALSO CARRY THE FAULTY GENE CHANCE THAT YOU DO NOT CARRY THE FAULTY GENE Mother or father 1 in 2 or 50% 1 in 2 or 50% Sister or brother 1 in 2 or 50% 1 in 2 or 50% Identical twin 1 in 1 or 100% (definitely do) 0 in 1 or 0% Aunt, uncle, grandparent 1 in 4 or 25% 3 in 4 or 75% Great aunt or cousin 1 in 8 or 12.5% 7 in 8 or 87.5% See page 25 for more information on the risk of developing breast cancer. If someone does not inherit the faulty gene found to be running in the family, then they have two normal copies of the BRCA1 or BRCA2 gene, and they cannot pass on the fault to their children. However, they and their children could still get sporadic breast cancer most cases of breast cancer are not related to an inherited fault in these breast cancer genes. 10 Your guide to UK services for people with a family history of breast cancer

13 How common is familial breast cancer? HOW COMMON IS FAMILIAL BREAST CANCER? The majority of those who develop breast cancer do not have a significant family history of the disease. For most women, getting older is the biggest risk factor for developing breast cancer. It is important to remember that: four out of five breast cancers occur in women aged over 50 What the guidelines say: Genes involved in breast cancer About 5% of all breast cancers are largely attributable to inherited mutations in specific genes including BRCA1, BRCA2 and TP53. Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, breast cancer is rare in women under 40 years old About one in 20 breast cancers are due to inherited faults in breast cancer genes such as BRCA1 or BRCA2. This accounts for about 2,500 cases each year in the UK. Around a further one in eight breast cancer cases are thought to be due to other genetic factors, where most of the specific genes involved are not yet known but are likely to be variants altered versions of normal genes which may contribute to the development of breast cancer. This accounts for approximately another 5,000 to 7,500 diagnoses each year in the UK. Having a family history of breast cancer means that you may be more likely to develop breast cancer, and at a younger age, but it does not mean that you will definitely get the disease. YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 11

14 What a family history is information your GP will want to know and how you can get referred to specialist genetics and family history services. FINDING OUT ABOUT YOUR FAMILY HISTORY

15 What is a family history of breast cancer? WHAT IS A FAMILY HISTORY OF BREAST CANCER? There are many ways that a possible family history of breast cancer may be investigated, including: women who are worried about their family history speaking to their GP women who have been diagnosed with breast cancer discussing their family history with their breast care team or with their GP women contacted by a family member who may have been confirmed as having a significant family history of breast cancer In England and Wales, the National Institute for Health and Care Excellence (NICE) has produced guidelines to help health professionals identify who may be at increased risk of breast cancer to ensure they are referred to the appropriate genetics or family history service. In Scotland, guidelines are set by the Healthcare Policy and Strategy Directorate of the Healthcare Planning Division of the Scottish Government. DISCUSSING YOUR FAMILY HISTORY WITH YOUR GP Your GP will use the information you give to determine if your family history needs further investigation by the family history or genetics service. The more accurate details you can give your GP, the more accurate your family history assessment will be. It is very important to remember that your risk assessment is an estimate and is based on the family history that you give your doctor. If other members of your family go on to develop cancer your risk assessment can change. So if there are further cases of cancer within the family then you should go back to your doctor to update your family history. What the guidelines say: discussing family history in primary care A person should be given the opportunity to discuss concerns about their family history of breast cancer if it is raised during a consultation. When a person with no personal history of breast cancer presents with breast symptoms or has concerns about relatives with breast cancer, a first- and seconddegree family history should be taken in primary care to assess risk because this allows appropriate classification and care. Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, What women say We put together a family tree outlining the relationship and the bloodline, the age and type of cancer, when they were diagnosed, if we knew, and at what age they died. Breakthrough supporter I was quite unaware how many women in my extended family had had cancer and it wasn t until after my mum died that I actually found out more. As cancer was a taboo subject until recent years a lot of the details were very sketchy. Breakthrough supporter YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 13

16 Finding out about your family history What women say The hospital gave me a letter that I sent to all my relatives. All my family took the letter to their doctors and got seen. Breakthrough supporter If you have been contacted by a relative who has a family history of breast cancer Some people might be contacted by a relative who has become aware that there is a significant risk of developing breast cancer in the family. This happens differently at different genetics centres: you may hear from your relative directly or you may hear from their genetics service, offering you an appointment. 14

17 Definitions of A family history of breast cancer Definitions of A family history of breast cancer HIGH RISK family history Women who are suspected of having a family history of breast cancer that puts them at high risk of developing breast cancer should be referred to a specialist genetics clinic. High risk is defined as at least: two first degree or second degree relatives diagnosed with breast cancer under an average age of 50 (at least one must be a first degree relative), or A first degree relative is a parent, sister/brother or daughter/son and a second degree relative is a grandparent or aunt/uncle. A third degree relative is a cousin or great aunt/uncle. The relatives must all be blood relatives on the same side of the family (mother s or father s). For more information on specialist genetics clinics see page 21. three first degree or second degree relatives diagnosed with breast cancer under an average age of 60 (at least one must be a first degree relative), or four relatives diagnosed with breast cancer at any age (at least one must be a first degree relative), or a greater than one in 10 chance that there is a genetic mutation in either the BRCA1, BRCA2 or TP53 gene in the family (see page 9) In families containing one relative with ovarian cancer at any age: one first degree or second degree relative diagnosed with breast cancer under the age of 50 (this could be the same relative as diagnosed with ovarian cancer), or two first degree or second degree relatives diagnosed with breast cancer under an average age of 60, or another ovarian cancer at any age In families containing instances of bilateral breast cancer (cancer in both breasts): one first degree relative with cancer diagnosed in both breasts under the age of 50, or one first degree or second degree relative diagnosed with bilateral breast cancer and one first degree or second degree relative diagnosed with breast cancer under an average age of 60 years YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 15

18 Finding out about your family history For more information about high risk see page 27. For more information on family history services see page 20, or for Regional Genetics Services, see page 21. In families containing male breast cancer at any age, at least: one first degree or second degree relative diagnosed with breast cancer under the age of 50, or two first degree or second degree relatives diagnosed with breast cancer under an average age of 60 years If there are any other patterns of cancer in your family that could still indicate you may be at high risk of developing breast cancer, your GP should ask the advice of the genetics or family history team before you are referred. The definitions of high risk above are adapted from guidelines from the National Institute for Health and Care Excellence and are relevant for care in England and Wales. Guidelines used in Scotland may have slightly different definitions. Your genetics specialist will let you know your level of risk. A first degree relative is a parent, sister/ brother or daughter/son and a second degree relative is a grandparent or aunt/ uncle. A third degree relative is a cousin or great aunt/uncle. The relatives must all be blood relatives on the same side of the family (mother s or father s). For more information about moderate risk see page 27. MODERATE RISK FAMILY HISTORY Women who are suspected of having a moderate risk of breast cancer should be referred to a family history clinic. In areas where no family history clinic is available, these women should be referred to the Regional Genetics Service. Examples of a moderate risk family history are: one first degree relative diagnosed with breast cancer under the age of 40 years, or two first-degree or second-degree relatives diagnosed with breast cancer at an average age of older than 50 years three first-degree or second-degree relatives diagnosed with breast cancer at an average age of older than 60 years If there are any other patterns of cancer in your family that could still indicate you may be at moderate risk of developing breast cancer, your GP should ask the advice of the genetics or family history team before you are referred. 16 Your guide to UK services for people with a family history of breast cancer

19 Definitions of A family history of breast cancer The definitions of moderate risk above are adapted from guidelines from the National Institute for Health and Care Excellence and are relevant for care in England and Wales. The definition of a moderate risk of breast cancer used in Scotland differs slightly from that given here. In Scotland, women with two first degree relatives, or one first degree and one second degree relative, diagnosed with breast cancer under the age of 60, or three first or second degree relatives at any age, may also be considered to have a moderate risk. Your genetics specialist will let you know your level of risk. What women say The biggest problem I had was that no one in my family realised that having a number of family members with breast or ovarian cancer at a younger age increases our risk of breast cancer. Breakthrough supporter YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 17

20 Finding out about your family history For more information on breast cancer genes, see page 9. For more information on genetics services, see page 21. Referral to family history and genetics services If your GP or breast care team considers your family history of breast cancer to be significant, you should be referred to family history or genetics services for more investigations. Women who are considered to be at higher risk of developing breast cancer should be referred to appropriate services for a more detailed discussion of their level of risk. Genetics and family history services are NHS services that provide care to individuals and families at risk of a genetic condition. This includes full assessment of an individual s risk, possibly including genetic testing, discussion of what that risk might mean for them and support in determining the best way to manage that risk, such as screening, risk-reducing drugs or risk-reducing surgery (see pages 59 and 63). Women at moderate risk are usually cared for in a family history clinic, eg at a district general hospital, and women at high risk are usually cared for in a Regional Genetics Service. This will include the small percentage of women who may have inherited a fault in one of the breast cancer genes. In Scotland, all women who are suspected to be at increased risk should be referred directly to the Regional Genetics Service, both those suspected to have a moderate risk and those suspected to have a high risk. What happens if you are not referred? Women who have only one first degree relative (eg sister, mother) or second degree relative (eg grandmother, aunt) diagnosed over the age of 40 are not considered to be at increased risk of breast cancer. These women are not usually referred to genetics or family history services unless there are any other factors in their family history that may increase their risk of breast cancer, such as relatives with breast cancer in both breasts (bilateral breast cancer), ovarian cancer or some other, rarer cancers, male relatives with breast cancer, Jewish ancestry, or two or more relatives on their father s side with breast cancer. 18 Your guide to UK services for people with a family history of breast cancer

21 Referral to family history and genetics services If your GP does not think that your family history of breast cancer is significant and you are not referred, you should be given written information on breast awareness, breast cancer risk and lifestyle choices. For more information on how to be breast aware see page 45. If your family history changes then your risk assessment may change, therefore it is important to update your GP if any other cancers occur in your family. YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 19

22 Finding out about your family history What women say I just went with an open mind and asked any questions I thought of. Breakthrough supporter I would have liked more information ahead of my appointment. I went with my sister and was worried I would have to get my boobs out in front of her as I didn t know what to expect. Breakthrough supporter Do I have a family history of breast cancer? Family history clinics Women who are thought to be at a moderate risk (page 27) of developing breast cancer in the future may be seen in a family history clinic. Depending on the area you live in, this could be run in different locations, for example in: a dedicated family history unit a community clinic a clinic in a breast unit This could be in a hospital or other healthcare building. Family history clinics are usually run by a family history nurse or genetic counsellor. The care of women through family history clinics should include: locally agreed standard processes and resources to ensure all people attending receive the same standard of care links to GPs and specialist genetics clinics access to breast screening services You should be given written information and support to go alongside your consultation, including access to counselling and information about support groups and voluntary organisations. Most appointments will last for half an hour or more to allow time for you to discuss your concerns. Sometimes several family members may attend an appointment together. Your visits to the family history clinic will include the opportunity for you to discuss your family history and to be given a risk assessment, which may be calculated using a specialist computer programme. 20 Your guide to UK services for people with a family history of breast cancer

23 Do I have a family history of breast cancer? Outcomes of the clinic visit If your assessment shows you are at moderate risk of developing breast cancer in the future, the team at the family history clinic will help you with ways to manage that risk. This may include breast screening, risk-reducing drugs, counselling and help in discussing any issues with other members of your family if you wish to do so. The risk assessment that is carried out in the family history clinic is more detailed than any assessment carried out by your GP or breast care team, so your estimated risk may change. Based on this, if the family history nurse feels it would be more appropriate for you to be seen in a different setting you may be referred elsewhere. This might mean that you are referred to a specialist genetics clinic if you are at higher risk than first thought. If your family history nurse thinks you are at lower risk than first thought, you might be referred back to your GP. If this happens, you should be given a full explanation of your risk assessment and reassured that your risk of developing breast cancer is not more than for the general population. What the guidelines say: TAKING A FAMILY HISTORY IN SECONDARY CARE Tools such as family history questionnaires and computer packages exist that can aid accurate collection of family history information and risk assessment and they should be made available. Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, For more information on risk assessment see page 25. For more information on unusual breast changes see page 45. It is important that you return to your GP if your family history changes as this may change your risk assessment, or if you notice any unusual changes to your breasts. Genetics clinics If you are considered to be at high risk (page 27) of developing breast cancer in the future you will usually be seen by a specialist doctor and/or a genetic counsellor in a genetics clinic. Some genetics clinics also see women who are at moderate risk if there is not a family history clinic in the area. Genetics services provide specialist care to families at risk of a genetic condition. This includes a full assessment of an individual s risk, possibly including genetic testing, discussion of what that risk might mean for them and support in determining the best way to manage that risk, such as breast screening from an earlier age, risk-reducing drugs or risk-reducing surgery (see pages 59 and 63). YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 21

24 Finding out about your family history Genetics services in the UK are provided by 24 Regional Genetics Centres which link clinical teams with laboratory services for genetic testing. The clinical team in a regional genetics service will include: clinical geneticists medical doctors trained in genetics who may have a further specialty, eg cancer genetics genetic counsellors or genetics nurse specialists, who are trained in genetics and in providing counselling and support Genetics clinics may be carried out: at the Regional Genetics Centre in outpatient clinics at district general hospitals in the region in wards or other hospital departments in an individual s home by telephone or videoconference; this is more likely in more remote areas or where the genetics service covers a large area Not all hospitals have a genetics clinic, so depending on where you live you may have to travel to your clinic appointment. Some clinics run a telephone service. The initial appointment will give you the opportunity to discuss your family history. The genetics specialist will assess your risk of developing breast cancer in the future and explain this to you. Following the risk assessment you may be referred back to a family history clinic if it is not necessary for you to receive the services available in the genetics clinic, such as genetic testing or access to risk-reducing drugs or surgery. For a list of regional genetics services see page 72. For more information on living with an increased risk of breast cancer, see pages Further visits to the genetics clinic will allow you to discuss any options for managing your risk of breast cancer to help you to make informed decisions on what action is best for you. If further genetics appointments are suggested for you, for example to discuss genetic testing or the options for managing your risk, your genetics specialist will arrange this for you. You may be referred for breast screening if this is appropriate for your risk and age. 22 Your guide to UK services for people with a family history of breast cancer

25 Do I have a family history of breast cancer? The exact structure of family history and genetics services and referral between them varies between areas. There should, however, be clear guidelines for the care and referral of women in each of the risk groups in your area to ensure everyone receives the care that is most appropriate to them. Preparing for your clinic appointment You may be asked to fill out a family history questionnaire ahead of your appointment. This may involve speaking to relatives about their medical history, which can cause anxieties or problems; however, it s very important that you fill out the questionnaire as accurately as you can as it will be used as the basis for your risk assessment. What women say The doctors took a record of what I knew of the family s history and also asked if they could contact my sister and father. Breakthrough supporter In an initial discussion it s important to take notes or take someone with you because you might not be able to take everything in. Breakthrough supporter For more information on support for speaking to relatives see page 43. YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 23

26 Finding out about your family history What women say I needed lots of support from my husband, workplace and healthcare professionals. Breakthrough supporter Genetic counselling Genetic counselling is an important part of the services that genetics clinics can offer you. The purpose of genetic counselling is to help a person or family understand information about a genetic condition. For familial breast cancer this will include discussing: the genetic factors involved in breast cancer the risk of the disease developing any options to manage the risk, such as breast screening from an earlier age, risk-reducing drugs or risk-reducing surgery The aim of genetic counselling is for family members to be able to make informed decisions on managing their risk based on their personal and family situation. Genetic counselling for familial breast cancer is different from traditional or psychological counselling. It covers many issues, including information on genetic testing, communication of test results and their implications, cancer risks, insurance, confidentiality and impact on work. You will also be able to discuss changes to family relationships, coping with the news, anxiety and grief and sources of support. 24 Your guide to UK services for people with a family history of breast cancer

27 Risk assessment Risk assessment Genetics professionals will look at the information you give them about your family history alongside your personal details, such as your age, gender and whether you have had breast or ovarian cancer in the past. They may use a specialist computer package to help with this. It is important to remember that genetics professionals cannot tell you if you definitely will or definitely won t get breast cancer they can give you an estimate of how likely you might be to develop breast cancer in the future, but not all people at increased risk of cancer go on to develop the disease. Risk assessment is an important part of determining if you are eligible for breast screening, risk-reducing drugs or risk-reducing surgery (see pages 47, 59 and 63). It is important to update your genetics team or GP if there are any changes to your family history (eg new cases of breast cancer in your family) as this may alter your risk assessment. Family history and risk The estimation of risk of developing familial breast cancer is based on the number and age of family relatives who have been affected by breast cancer. Breast cancer is a complex disease and Breakthrough Breast Cancer does not believe that there is any one single factor that is responsible for causing it. It is thought to be caused by a combination of our genes, lifestyle and environment. This makes it difficult to assess a person s risk precisely; however, estimates can be made. While having a higher personal risk of breast cancer than the general population means that you are more likely to develop breast cancer, it does not mean that you will definitely get the disease in the future. What the guidelines say: risk assessment Women meeting criteria for referral to tertiary care should be offered a referral for genetic counselling regarding their risks and options. Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, What the guidelines say: risk communication People should be offered a personal risk estimate but information should also be given about the uncertainties of the estimation. When a personal risk value is requested, it should be presented in more than one way (for example, a numerical value, if calculated, and qualitative risk). People should be sent a written summary of their consultation in a specialist genetic clinic, which includes their personal risk information. Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 25

28 Finding out about your family history What the guidelines say: population risk of developing breast cancer Population risk: Lifetime risk of less than 17% (equivalent to less than 1 in 6). People who are at near population risk of breast cancer are generally managed in the primary care setting as they are considered not to be at sufficient risk to justify extra surveillance or other interventions to reduce their breast cancer risk. Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, In England and Wales, the National Institute for Health and Care Excellence broadly defines the levels of risk as: population risk moderate risk high risk In Scotland the definitions may vary from this. Population risk no significant family history Breast cancer is the most common cancer in the UK, therefore it s not unusual to have a relative diagnosed with breast cancer. Having one relative diagnosed with breast cancer over the age of 40 probably does not constitute a family history suggestive of hereditary breast cancer most breast cancer has no known hereditary basis and occurs in women with no significant family history. This type of breast cancer is referred to as sporadic and is more likely to occur with increasing age. About four out of five breast cancer cases occur in women over 50 years old (after the menopause). This means that every woman has some risk of developing breast cancer and that risk increases as she gets older. The overall risk for any woman of developing breast cancer at some point in her lifetime is 12.5%. That is to say, one in eight women will develop breast cancer at some point in their lifetime. Women who do not have a family history that suggests they may be at increased risk of developing breast cancer have a risk that is said to be near to population risk (this is sometimes referred to as average risk and means that there is no, or only very little, increase in risk above that of the general population). The vast majority of women are at or near population risk. 26 Your guide to UK services for people with a family history of breast cancer

29 Risk assessment Moderate risk Research studies have determined that around 10 15% or approximately one in eight cases of breast cancer may be due to lesser genetic factors, where many of the specific genes involved are not yet known. It is likely that these factors are variants altered versions of normal genes which contribute to the development of breast cancer. Because these genetic factors aren t fully known a genetic test is not possible; therefore, genetics professionals will look at the number and age of any relatives diagnosed with breast cancer to determine your risk (see page 15). This is described as a moderate risk of developing breast cancer (page 16). Being at moderate risk does not mean that you will definitely develop breast cancer. However, it does mean that you have a greater chance of developing breast cancer than someone who is at population risk. Approximately 5,000 to 7,500 women at moderate risk due to their family history go on to develop breast cancer each year in the UK. High risk Only about 5% or one in 20 cases of breast cancer are due to inherited faults in known breast cancer genes. Women with these inherited faults have a high risk of developing breast cancer (see page 15). Some women who are not known to have inherited a fault in a known breast cancer gene may also be considered to be at high risk based on their family history of breast cancer. Being at high risk does not mean that you will definitely develop breast cancer. However, being at high risk means that you have a greater chance of developing breast cancer than someone who is at moderate or population risk. About 2,500 women at high risk due to their family history go on to develop breast cancer each year in the UK. What the guidelines say: moderate risk of developing breast cancer Moderate risk: Lifetime risk of 17% or a greater but less than 30% (equivalent to greater than 1 in 4). Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, For more information on family history see page 13. For more information on what constitutes a high or moderate risk of breast cancer see pages What the guidelines say: high risk of developing breast cancer High risk: Lifetime risk of 30% or greater (equivalent to greater or equal to 1 in 3). Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, What women say I felt really reassured throughout the whole process as all the health professionals were so kind and made the whole experience less scary. Breakthrough supporter The appointment was useful. I was worried about my risk but he explained we were at low to medium risk. Breakthrough supporter YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 27

30 Finding out about your family history For more information on living with an increased risk of breast cancer see pages See page 41 for more on information and support for people with a family history of breast cancer. Fewer than one in 100 of all women in the general population are at high risk of developing breast cancer. If you have a family history of breast cancer and are living with a high risk of developing the disease, you should be given genetic counselling and enough information to help you understand your own risk. Genetic counselling can help you adjust to knowing your risk and discuss the options that are available to you to help you decide what action is most appropriate for you. 28 Your guide to UK services for people with a family history of breast cancer

31 Genetic testing Genetic testing The discovery of genes linked to breast cancer risk has meant that some women who have a family history are able to take a genetic test. This can help to provide information as to whether they have inherited a genetic fault that puts them and potentially their family at a higher risk of developing breast cancer. Fewer than one in 100 of the general population are likely to have an inherited fault in a breast cancer gene, therefore genetic testing is not widely available. It is only offered to people whose family history suggests they may have a faulty gene. The majority of genetic testing looks for faults in two genes which are known to increase the risk of developing breast cancer these are the breast cancer genes BRCA1 and BRCA2. Inherited faults in these genes lead to a high risk of developing the disease. Inherited faults in another gene, TP53, can cause Li-Fraumeni syndrome and can give an increased risk of breast cancer. This is much rarer than faults in the BRCA genes. Families in which there are childhood sarcomas and brain tumours as well as breast cancer may be offered tests for faults in TP53. There are some extremely rare faults in other genes known to be involved in hereditary breast cancer; however, genetic tests are not available for all these faults at present. The decision whether or not to take a genetic test should be accompanied by genetic counselling. In the counselling sessions, you will have a chance to talk through what having a genetic test means, how you may feel, what they will do with the test results and how you will cope. It is important to discuss any concerns or questions with your genetic counsellor and to explore the possible impact that any result of the test may have on you and your family. What the guidelines say: access to genetic testing Genetic testing for a person with no personal history of breast cancer but with an available affected relative: Offer genetic testing in specialist genetic clinics to a relative with a personal history of breast and/or ovarian cancer if that relative has a combined BRCA1 and BRCA2 mutation carrier probability of 10% or more. Genetic testing for a person with no personal history of breast cancer and no available affected relative to test: Offer genetic testing in specialist genetic clinics to a person with no personal history of breast or ovarian cancer if their combined BRCA1 and BRCA2 mutation carrier probability is 10% or more and an affected relative is unavailable for testing. Genetic testing for a person with breast or ovarian cancer: Offer genetic testing in specialist genetic clinics to a person with breast or ovarian cancer if their combined BRCA1 and BRCA2 mutation carrier probability is 10% or more. Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer, National Institute for Health and Care Excellence, Genetic testing does not prevent breast cancer developing, but it can give an indication of how likely breast cancer is to occur and how likely it is that family members will develop breast cancer. YOUR GUIDE TO UK SERVICES FOR PEOPLE WITH A FAMILY HISTORY OF BREAST CANCER 29

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