Family history of pancreatic cancer

Transcription

1 Family history of pancreatic cancer _ This fact sheet is for people who want to find out about the hereditary risk of pancreatic cancer. You can speak to our specialist nurses on our Support Line about any questions you may have about family history of pancreatic cancer. You can call them free on , or support@pancreaticcancer.org.uk Family history of pancreatic cancer Sometimes cancers are said to run in the family. This means there is a faulty gene in the family that is linked to a type of cancer, and can be passed down from a parent to a child. People in a family who carry the faulty gene have an increased risk of developing that particular type of cancer, but it doesn t mean they will always develop it. This is known as inherited, hereditary or familial cancer, or family cancer syndrome. What are genes? Genes are the instructions that control our growth and how our bodies work. Genes come in pairs. We inherit one copy of each gene pair from our mother and the other from our father. We all have tiny changes in our genes, which make each person an individual. For example, genes determine the colour of our eyes and hair. Occasionally, there may be changes in genes that mean that someone is more likely to get a disease. This type of change in a gene is often called a fault or mutation. Changes in genes can be inherited from a parent, but sometimes changes can happen to genes during our lifetime. These changes are not inherited from our parents. They may be caused by a random mistake when a cell divides. Or they may be caused by other things, such as smoking. These are more common causes of cancer than inherited genetic faults.

2 Does pancreatic cancer run in families? In most cases pancreatic cancer doesn t run in families. However, a small number of rare genetic conditions are linked to a higher risk of pancreatic cancer. These are sometimes called family cancer syndromes. Up to one in ten (10%) pancreatic cancers may be caused by one of these conditions. They are rare, so if your family is affected you will probably know about it from family members who have already been diagnosed. Hereditary pancreatic cancers Most family cancer syndromes are linked to exocrine pancreatic cancer. Exocrine cancers make up 95 out of every 100 (95%) pancreatic cancers and include the most common type, pancreatic adenocarcinoma. Family cancer syndromes Peutz-Jeghers syndrome causes lots of non-cancerous growths (polyps) in the digestive system, and dark spots on the hands and face. Nine out of ten cases (90%) are caused by a fault in a gene called STK11. It increases the risk of pancreatic cancer and other cancers including bowel and breast cancers. Hereditary breast and ovarian cancers are linked to faults in genes called BRCA1 and BRCA2. Faults in these genes significantly increase the risk of developing breast and ovarian cancer but they also increase the risk of other cancers, including prostate and skin cancer (melanoma). Both men and women can have faults in these genes. Faults in the BRCA2 gene slightly increase the risk of pancreatic cancer. Most breast, ovarian, prostate and skin cancers aren t caused by BRCA1 and BRCA2 so if you have a family member with one of these cancers, this doesn t necessarily mean you have a higher risk of pancreatic cancer. BRCA Umbrella provide an online forum and information for people with a fault in a BRCA gene. Familial atypical multiple mole and melanoma syndrome (FAMMM) is a condition caused by a fault in genes called CDKN2A and CDK4. People who carry the faulty genes have large numbers of unusual moles, and have a higher risk of both pancreatic and skin cancer (melanoma) cancer. Familial adenomatous polyposis (FAP) is a bowel condition caused by a fault in a gene called APC. People with FAP have lots of polyps in their bowel and a high risk of developing bowel cancer. They also have a very slightly increased risk of pancreatic cancer.

3 Lynch syndrome (which used to be called hereditary non-polyposis colorectal cancer or HNPCC) is a condition that increases the risk of developing bowel cancer. It also increases the risk of some other cancers, including pancreatic cancer. It is caused by faults in one of several genes, including MLH1, MSH2, MSH6 and PMS2. Li-Fraumeni syndrome is due to a fault in a gene called p53. It increases the risk of cancer in most organs, including the pancreas. Ataxia telangiectasia is a rare condition caused by a fault in a gene called ATM. It slightly increases the risk of pancreatic cancer. Familial pancreatic cancer Familial pancreatic cancer is pancreatic cancer that runs in families. This includes: families with two or more first-degree relatives (parent, brother, sister or child) with pancreatic cancer families with three or more relatives with pancreatic cancer on the same side of the family families with a known family cancer syndrome and at least one family member with pancreatic cancer. The chance of familial pancreatic cancer increases if: relatives were diagnosed under 60 there are more than two people with pancreatic cancer in the family there are cases of pancreatic cancer in more than one generation. We don t currently know what genetic faults cause most familial pancreatic cancers. We only know about the genetic faults that cause about one in five (20%) familial pancreatic cancers. The most common genetic faults that we do know about are faults on the BRCA2 gene. If you think pancreatic cancer runs in your family, speak to your doctor about being referred to your local genetics service. They can assess your family history and they may offer genetic testing. You might also want to find out about the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) study. This study is trying to find the genetic faults that cause familial pancreatic cancer and to develop a good way to screen for pancreatic cancer. There may be other research studies for people with a family history of pancreatic cancer. Speak to your doctor about this.

4 Hereditary pancreatitis Pancreatitis is inflammation of the pancreas. Hereditary pancreatitis runs in families. It starts in early childhood, and can keep coming back. It is a rare condition and is linked to a fault in the PRSS1 gene. People who carry this faulty gene have a very high chance of developing pancreatitis. Pancreatitis can cause abdominal (tummy) pain. Over time, it may cause problems with the pancreas, such as problems digesting food. People with hereditary pancreatitis may be more likely to get pancreatic cancer. About two fifths (40%) of people with hereditary pancreatitis may develop pancreatic cancer at some point in their lives. The risk may be higher for people who smoke and people who have diabetes. The EUROPAC study is also looking at hereditary pancreatitis. It is not common for pancreatitis to run in families. But chronic (long-term) pancreatitis that isn t inherited may also increase the risk of pancreatic cancer. Is screening available for people at higher risk of pancreatic cancer? Screening aims to find people who will get a disease before they get any signs or symptoms of it. There is no national screening programme for pancreatic cancer for the general population at the moment. However, if you have a family history of pancreatic cancer, you might be interested in being referred to the EUROPAC secondary screening study. This research study is trying to find out the best way to screen for pancreatic cancer. Screening is offered to people known to have a higher risk of pancreatic cancer. Every family is considered individually, but you can take part in the screening if you meet the EUROPAC eligibility criteria: you have two or more first-degree relatives diagnosed with pancreatic cancer, or three or more relatives with pancreatic cancer the relatives must all be on the same side of the family there is a family cancer syndrome in your family, and at least one family member has had pancreatic cancer and they have a faulty gene. Screening usually starts from the age of 40. It sometimes starts earlier if a relative was diagnosed with pancreatic cancer when they were under 50.

5 Screening can t stop someone getting pancreatic cancer, but diagnosing cancer at an earlier stage may mean that treatment is more successful. What does screening involve? Screening should be tailored to each person s risk and circumstances, and is best discussed in a specialist research centre. To take part in the EUROPAC secondary screening study, your family history will be assessed to work out your risk of pancreatic cancer. If you are screened you could be offered: a CT (computerised tomography) scan, or sometimes an MRI scan (magnetic resonance imaging) an EUS (endoscopic ultrasound) a blood test to check for tumour markers (chemical substances produced by cancers that show up in the bloodstream) such as CA19-9 a blood test to check the level of sugar (glucose) in your blood this increases if you have diabetes. If you have hereditary pancreatitis, this can damage the pancreas, which may make the EUS less effective. You may be offered a CT scan every year instead. If the tests suggest a possible problem, you may be offered continued monitoring or more tests to confirm the findings. You may be offered an operation if a growth is found that could be removed. Can I have a genetic test for pancreatic cancer? Genetic tests can look for faults in the genes that we know can be linked to familial pancreatic cancer. If you have a family history of pancreatic cancer, genetic testing may be available. Testing is usually first offered to someone in the family who has developed cancer. If a genetic fault is identified, testing for this fault is then available to relatives who have not developed cancer. People with familial pancreatic cancer, or another genetic condition linked to an increased risk of pancreatic cancer, should first be offered genetic counselling and then, if appropriate, genetic testing. Genetic counselling with a genetic counsellor or genetics doctor is used to provide information about an inherited condition and the chance of you developing it or passing it on. It helps to prepare people for what it means if they find out they have a faulty gene that greatly increases their risk of developing pancreatic cancer.

6 If you are referred to a genetics clinic it s helpful if you can gather information beforehand including: how everyone in the family is related to you and to each other how old each affected relative is and their age when they were diagnosed what other cancers have been diagnosed in the family. The specialists can then work out how likely it is that there is a faulty gene in the family. Depending on this risk assessment you may be: offered a genetic test if you do have an increased risk and if a test is appropriate told you are at increased risk but that genetic testing isn t appropriate based on your family history, or because you have no living relative with pancreatic cancer who can be tested first told that you aren t at any more risk than the general population. If you are offered a genetic test, after you ve talked to a specialist, it s up to you to decide whether or not to have it. You can take as much time as you need to decide. If the test shows that you have a fault in a gene that may cause pancreatic cancer, you can then have screening, as part of a research study. What should I do if I think I have a family history of pancreatic cancer? If you think you might have a family history of pancreatic cancer, talk to your doctor, especially if you have any worrying symptoms. Give them as much information as possible about pancreatic cancer or known hereditary cancer syndromes in your family. Discuss your situation with them, and ask whether you should be referred: to a specialist in pancreatic disease for genetic counselling to the EUROPAC study.

7 The European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) The European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) is looking at two types of families those with familial pancreatic cancer and those with hereditary pancreatitis. Researchers hope to learn more about the genetic causes of pancreatic cancer. Being able to identify people at high risk may also help researchers to develop new screening programmes to detect pancreatic cancer at an early stage. Familial pancreatic cancer registry People from families with familial pancreatic cancer can join the study by completing questionnaires and giving a blood sample. The blood is tested by researchers to try to identify which genes may cause familial pancreatic cancer. People can choose whether or not they are told about results that are relevant to their family. If a gene that causes pancreatic cancer is found in a family, unaffected family members will be offered genetic counselling. Secondary screening study The EUROPAC secondary screening is aimed at people who are at increased risk of pancreatic cancer, following an assessment. Hereditary pancreatitis registry People with hereditary pancreatitis can join the study by completing questionnaires and giving a blood sample. The blood is taken after talking to an expert in pancreatic diseases and sometimes a geneticist (a specialist in genes) for genetic counselling. The blood may be tested for faults in genes known to cause pancreatic disease. People who take part can choose whether or not to be told about any results that are relevant to their family. If a faulty gene is found, family members who don t have pancreatitis can have genetic counselling and genetic tests if appropriate. How do I get in touch with EUROPAC? Anyone interested in taking part in the study can contact the team directly by on: europac@liverpool.ac.uk or phone You can also ask your GP or specialist to refer you. You have to be referred to take part in the secondary screening study.

8 Hereditary pancreatic neuroendocrine tumours Fewer than five in one hundred (5%) of all pancreatic cancers start in the hormone producing cells of the pancreas. These are called neuroendocrine tumours. Of these, an even smaller number are related to family cancer syndromes. If your family is affected by one of these family cancer syndromes, ask your doctor what screening and support is available. You can also contact the NET Patient Foundation, which has information and support for anyone affected by hereditary neuroendocrine syndromes. Multiple endocrine neoplasia type 1 (MEN1) MEN1 is a family tumour syndrome caused by faults in the MEN1 gene. Multiple endocrine tumours can develop in different hormone-producing glands, including the pancreas, the parathyroid gland, and the pituitary gland. Not all tumours linked to MEN1 are cancerous. About three quarters (75%) of people with MEN1 will develop tumours in the pancreas. People with faults in the MEN1 gene should be screened from childhood with blood tests every year, and endoscopic ultrasound (EUS) or MRI (magnetic resonance imaging) scans every three years. The Association for Multiple Endocrine Neoplasia Disorders (AMEND) offers information and support for people with MEN1. von Hippel-Lindau (VHL) syndrome This family cancer syndrome is linked to the VHL gene. It causes an increase in small blood vessels in the brain, spinal cord and back of the eyes and also tumours of the kidney and the adrenal gland. Not all tumours linked with VHL are cancerous. Around half of people with VHL may have cysts in the pancreas, which don t usually cause any symptoms. About ten to fifteen out of a hundred (10-15%) people with VHL also have one or more pancreatic neuroendocrine tumours. These are usually non-functioning, which means they don t produce hormones and generally don t cause symptoms. Screening for people with faults in the VHL gene should begin from early childhood. People with VHL and those with a faulty VHL gene should have a tummy scan (abdominal ultrasound or MRI) every year to look for tumours in the kidneys, adrenal glands, pancreas and pelvis, starting in mid-teens. VHL UK/Ireland provides information about support for people with von Hippel-Lindau syndrome.

9 Neurofibromatosis type 1 This condition is caused by faults in the NF1 gene. As well as other problems, it leads to an increased risk of many tumours, including somatostatinomas of the pancreas. However, this is not common. The Neuro Foundation offers information and support for people with the condition. Tuberous sclerosis This is a genetic condition linked to faults in the TSC1 and TSC2 genes. It causes extra tissue growth in different organs, including the pancreas, which may occasionally become cancerous. The Tuberous Sclerosis Association offers information and support for people with the condition. Other sources of information and support Association for Multiple Endocrine Neoplasia Disorders (AMEND) Offers information and support for people with MEN1. CancerHelp UK Helpline (Mon-Fri 9am-5pm) Information for patients from Cancer Research UK EUROPAC The European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) is looking at two types of families those with familial pancreatic cancer and those with hereditary pancreatitis. Researchers hope to learn more about the genetic causes of pancreatic cancer. Being able to identify people at high risk may also help researchers to develop new screening programmes to detect pancreatic cancer at an early stage. Anyone interested in taking part in the study can contact the team directly by on: europac@liverpool.ac.uk or phone Macmillan Cancer Support Support Line (Mon-Fri 9am-8pm) Provides practical, medical and financial support for anyone affected by cancer.

10 BRCA Umbrella brcaumbrella.ning.com Provides practical and emotional support to men and women with a fault in BRCA gene or are at high risk of BRCA related cancers, including an online support forum and information. Neuro Foundation Telephone: Provides information and support for people with Neurofibromatosis type 1. NET Patient Foundation Call free on Information and Support for people with neuroendocrine tumours (NETs) including pancreatic neuroendocrine tumours. Tuberous Sclerosis Association Provides information and support for people with Tuberous Sclerosis. VHL UK/Ireland Provides information about support for people with von Hippel-Lindau syndrome.

11 Further information and support Pancreatic Cancer UK is the only national charity fighting pancreatic cancer on all fronts: Support, Information, Campaigning and Research. We are striving for a long and good life for everyone diagnosed with pancreatic cancer. Support Line We run a confidential Support Line for anyone affected by pancreatic cancer. Our pancreatic cancer specialist nurses can provide individual specialist information about pancreatic cancer, treatment options and managing symptoms and side effects. They have time to listen, answer your questions and provide support. (Monday to Friday, 10am-4pm) support@pancreaticcancer.org.uk Information We provide information about pancreatic cancer, treatment options, side effects and living with pancreatic cancer. All our information is based on the latest evidence, and reviewed by health professionals and people affected by pancreatic cancer. Go to Download and order publications at Support groups There are pancreatic cancer support groups across the UK, where you can meet other people affected by pancreatic cancer, share experiences and find support. Find your nearest support group on our website at Discussion forum Join our online discussion forum to talk to others affected by pancreatic cancer. Members include people with pancreatic cancer as well as family and friends. They share their experiences and tips, and support each other. Sign up on our website at

12 This fact sheet has been produced by the Support and Information Team at Pancreatic Cancer UK. It has been reviewed by healthcare professionals and people affected by pancreatic cancer. References to the sources of information used to write this fact sheet and an acknowledgement of the health professionals who reviewed the booklet are available on our website Pancreatic Cancer UK makes every effort to make sure that its services provide up-to-date, unbiased and accurate information about pancreatic cancer. We hope that this information will add to the medical advice you have received and help you to take part in decisions related to your treatment and care. Please do continue to talk to your doctor, specialist nurse or other members of your care team if you are worried about any medical issues. Give us your feedback We hope you have found this information helpful. If you have any comments or suggestions about this fact sheet or any of our other publications, you can or write to the Information Manager at the address below. Pancreatic Cancer UK 2nd floor, Camelford House Albert Embankment London SE1 7TW Telephone: Website: Pancreatic Cancer UK October 2015 Review date October 2017 Pancreatic Cancer UK is a charity registered in England and Wales ( )