1. level 9 – Degree Breast cancer case study Enter resource

2. Introduction to this resource This case study follows the progress of a patient and her family in the genetic clinic. Different clinical areas gather family history information using different methods. Before progressing with this case study you may want to refresh your knowledge of family history taking. Otherwise click the ‘Next’ button below.refresh your knowledge of family history taking Next

3. Family History –Symbols and relationship lines You first need to know the symbols and relationship lines. Here you can find these and it would be useful to print out this document whilst you constructing the family tree.Here Next

4. Constructing family tree This animation is a step by step presentation of the details in creating a meaningful family tree. This animation PowerPoint presentation of this animation is also available at ScotGEN websiteScotGEN website Back to module Back to module

5. The red boxes are "action boxes", and they provide suggested activities, such a discussions, reflection points and more practical activities. The light blue boxes are "content boxes", read them carefully because all the key information is there. The green boxes are "answer boxes", and they provide the answer to the previous activity. Click for suggested learning outcomes Click for suggested learning outcomes The orange boxes are “practice boxes", they suggest some practical activities aimed to deepen your knowledge about the topic.

6. Examine the role of genes in the development of breast cancer Examine the relationship between the underlying basis and psychosocial impact of familial predisposition to breast cancer Provide a rationale for the role of the genetic services in providing risk assessment, diagnosis, management options & genetic testing in the Scottish context Learning outcomes Next

7. Please read: This case study has be developed to enable you to use your current scientific knowledge on cancer genetics and use the skills you have gained in taking a family history and drawing a family tree. If you have background knowledge in these areas this case study can stand alone. Next

8. Breast cancer affects around 1 in 10 British women at some time in their lives. Most cases of breast cancer arise by chance. However, a few women are more likely to develop breast cancer because of their genetic make up. In this case study you will learn about how breast cancer can run in families, and what can be done to help women who have a family history of breast cancer. Start Index

9. Start Breast Cancer case study – Part I Confirmation of cancer Risk assessment Clinic appointment Mammography Note for educators Family history – Part II Family history– Part III Genetic testing – Part I Genetic testing – Part II

10. Mollie Jenkins a 45-year-old lady has been admitted to the surgical ward for a left breast lumpectomy and removal of axillary glands. She discovered a lump in her breast about a month ago and was referred to the breast clinic. Following a mammogram, ultra-sound and fine needle biopsy she was diagnosed with breast cancer. Mollie is married with 2 teenage daughters aged 13 and 17 years and a son aged 9 years. Mollie works part-time as a primary school secretary. During the afternoon Mollie’s 42-year-old sister Wendy Adams visited her. Wendy is very concerned that Mollie is now the third person in their family to be diagnosed with breast cancer. Wendy therefore spoke to the Staff Nurse on duty to ask if she should be concerned about her own risk of developing breast cancer. The Staff Nurse recommended that she makes an appointment with her GP to discuss her family history. Her GP decided to refer Wendy to the genetic clinic. The genetic service sent Wendy a family history form to complete before a clinic appointment was activated Next Breast Cancer case study – Part I

11. When the completed family history form is returned to the genetic service the family tree is drawn. Next Some Cancer Genetic services ask the person to bring the completed form to the clinic appointment, others draw a family tree at the appointment. Practice point

12. Action box (Prior knowledge of drawing a family tree is required for this activity) Different genetic clinics use different methods to gather family history information. The process of drawing a family tree is the same however the information is gathered. See section 2 for more information.  Open the completed family history form from Wendy Adamcompleted family history form  Now draw the family tree (pedigree) from the form. It is important you do this to complete the case study  You may need a reminder of pedigree symbols and relationship linessymbolsrelationship lines This activity should take about half an hour. Click for answer

13. Below you will find a computer drawn family tree from Wendy’s completed family history form.  Open the correct drawing document to see what your family tree should look like.correct drawing document  Compare the correct drawing document with the family tree you have drawn yourself and correct any errors you have made. Keep this family tree for use in later activities. Although your family tree will be hand drawn, and you may have a different key to represent the different types of cancers, the structure of the family tree should look the same. Answer box Next

14. Confirmation of cancer It is good practice in a genetic department to confirm the primary diagnosis of cancer from clinical records for relevant affected relatives. Click for next activity

15. Click for answers What sources can be used to confirm a diagnosis of cancer? Why should we confirm cancers? Action box

16. Answer box Next Why should we confirm cancers? Some people share the wrong information with their family. Some people share the wrong information with their family. Confirm the aetiology of specific cancers. Confirm the aetiology of specific cancers. Confirm age at diagnosis. You could discuss as a group, any difficulties you may experience with getting information to confirm cancers. Sources used to confirm a cancer diagnosis. Hospital notes or electronic file, GP notes, cancer registry, births, marriages & deaths and occasionally from patient held notes or letters. Note: consent If a person with cancer is alive and their cancer is required to be confirmed, a signed consent form must be sent to cancer registry with the request. Click here to see one sample form. (Each service will have their own consent forms)

17. Examine the specimen documents provided  completed consent form from Mollie Jenkins, Polly Briggs and Jane Brown.Mollie Jenkins Polly BriggsJane Brown  death certificatedeath certificate  letter from hospital notes (Jane Brown)letter from hospital notes  cancer registration form (Mollie Jenkins and Polly Briggs)Mollie JenkinsPolly Briggs It is a common occurrence that the referred individual will be asked to provide death certificates where possible.  Using the Family history form update the family history with the new information. Optional activity Next

18. Cancer was confirmed in Mollie Jenkins (breast cancer at age 45), Polly Briggs (breast cancer at age 70) and Beryl Smith (breast cancer at age 70). However, Jane Brown’s ovarian cancer was not confirmed. It was noted that she had abnormal cervical cytology (no cancer) at age 29. Click for next activity Can you add this extra information to your previous hand drawn pedigree? Action box Click here to see updated pedigree Click here to see updated pedigree

19. Risk assessment When the pedigree has been drawn and the cancers confirmed an assessment of risk is undertaken. This family history assessment is performed using appropriate evidence based guidelines. Click for next activity

20. Genetic counsellors use evidence based guidelines to estimate risk and recommend management for patients with familiar breast cancer. There are local variations in the guidelines. In Scotland, agreed guidelines were the subject of a recent health department letter (HDL). They can be viewed here.here In England and Wales the NICE guidelines are used.NICE Practice point Click for next activity  Access guidelines  Read and understand these applied in cancer genetics practice Action box

21. Click for next activity Mollie and her sister Wendy attend the genetic clinic together. The genetic counsellor explains the causes of breast cancer. Clinic appointment

22. Click for animation Mutations in one or more genes in a cell can cause cancer. A person can inherit a mutation (gene change) from his/her parents or acquire it during his/her lifetime. A somatic (acquired) mutation can be caused by environmental factors, such a cigarette smoke, radiation, alcohol. Action box

23. Click for animation Mutations in one or more genes in a cell can cause cancer. A person can inherit a mutation from his/her parents or acquire it during his/her lifetime. A somatic (acquired) mutation can be caused by environmental factors, such a cigarette smoke, radiations, alcohol. Action box Mutations in one or more genes in a cell can cause cancer. A person can inherit a mutation (gene change) from his/her parents or acquire it during his/her lifetime. A somatic (acquired) mutation can be caused by environmental factors, such a cigarette smoke, radiation, alcohol. Action box Sporadic breast cancer Familial breast cancer No mutation inherited at birth Mutation inherited at birth Other unknown factors Radiation Dietary and hormonal factors Breast cancer Click for next activity

24. Action box The counsellor explains that in Mollie’s case the cancer is unlikely to be caused by mutations in the high risk genes BRCA1 or BRCA2, but that Wendy does have a moderate risk of developing breast cancer. Moderate risk means that Wendy has at least twice the population risk of developing breast cancer. Her daughter is currently at population risk whilst Wendy remains unaffected by breast or ovarian cancer. Read these articles:  Types of genes involved in cancerTypes of genes involved in cancer  Tumour suppressor genes: guardians of our cellsTumour suppressor genes: guardians of our cells  Cancer and genesCancer and genes Next

25. Mammography is the key screening strategy in the moderate risk group. The evidence for its use is shown in the NICE guideline document.NICE guideline document Click here for more information about mammography.here Action box Next Mammography

26. Click for answer With the family history you have constructed, use your local breast cancer genetics guidelines to determine what surveillance and screening Mollie’ daughters will be offered and from what age. Action box

27. According to both the Scottish and NICE guidelines, Wendy should be offered annual mammography from her present age until 50. Current guidelines would recommend that Molly’s daughters should start breast screening at 40. Answer box Next With the family history you have constructed, use your local breast cancer genetics guidelines to determine what surveillance and screening Mollie’ daughters will be offered and from what age. Action box

28. Discussion box Open this picture of a normal mammogram Reflect on these questions:  What is a mammogram? What is a mammogram?  What does it do? What does it do?  What does it involve? What does it involve? Next More information is available in this article: “Mammograms in breast screening”“Mammograms in breast screening

29. Next Read the following two articles:  Hereditary breast and ovarian cancerHereditary breast and ovarian cancer  Breast and ovarian cancer riskBreastovarian Optional activity

30. Note for educators First part of the learning object finishes here. The following part can be used to follow part one for a more in depth exercise. Next

31. Family History Part 2 (most relevant to genetic counsellors) A few months after Wendy attends the genetic clinic, her paternal cousin Freda aged 36 years (Harold Briggs’ daughter) starts to get anxious about all the cancers in the family. Freda asks her GP to refer her to the genetic clinic for advice about breast screening. Next Look at the latest version of the family history.

32. Next Action box There are elements of personal history that can be used in assessment of breast cancer risk: body mass index, menarche, menopause, parity, breast feeding, COCP and HRT, history of benign breast biopsy.  Read this article about breast cancer risk factors.breast cancer risk factors

33. Click for answer  What is Freda’s risk of developing breast cancer? Remember to refer to the Scottish guidelines.Scottish guidelines Action box

34. Freda is considered to be at population risk of developing breast cancer based on the information she provides and following confirmation of the cancers in her family. Answer box Next  What is Freda’s risk of developing breast cancer? Remember to refer to the Scottish guidelines.Scottish guidelines Action box

35. Write a letter to Freda and her GP outlining her family history and including the following issues:  Background rate of breast cancer in population  Age profile  Freda’s risk assessment  National breast screening  Lifestyle advice  Breast awareness Action box Next Click here to see an example of a letter to Freda Click here to see an example of a letter to Freda Click here to see an example of a letter to the GP Click here to see an example of a letter to the GP

36. Family History Part 3 (most relevant to genetic counsellors) Wendy’s maternal cousin Myra is referred for a genetic clinic appointment as her sister Winifred has recently been diagnosed with breast and ovarian cancer at the age of 35. Click for next activity

37. Click for answer  What is the family risk now? Remember to refer to the Scottish guidelines.Scottish guidelines Action box

38.  The new family history information changes Wendy’s risk to high based on Scottish and NICE guidelines. Answer box Next  What is the family risk now? Remember to refer to the Scottish guidelines.Scottish guidelines

39. Next The genetic counsellor tells Wendy that genetic testing would now be available for her family. The counsellor explains that with Mollie’s informed consent her sample can be tested and that the result could have implications for other relatives. Genetic testing – Part I

40. It is standard practice to request a DNA sample from an affected relative. The testing and interpretation of results is complex and can take several months. Click here for more information about genetic testing.here Practice point Next

41. Mollie consents to give a sample for testing of the BRCA1 and 2 genes. The test shows she has a mutation (also may be described as a gene change) in the BRCA2 gene. Click here to see Mollie’s test result Click here to see Mollie’s test result

42.  What is Wendy’s risk of breast cancer now?  Is she at risk of any other type of cancer? Action box Click for answer

43. Answer box Next Faulty copy of BRCA gene Working copy of BRCA gene MumDad Children  Wendy has a 50% or 1:2 chance of inheriting the faulty gene.  BRCA1 risk of Breast cancer ~80%; Ovarian cancer ~65%  BRCA2 risk of Breast cancer ~88% and Ovarian ~37% Ref: Evans DG et al. (2008). Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical cancer Genetics Service setting: risk of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer 8:155 [Electronic version]Electronic version

44. Answer box Next Faulty copy of BRCA gene Working copy of BRCA gene MumDad Children  Women who inherit a faulty BRCA1 or BRCA2 gene will have a very high chance of developing breast and ovarian cancer.  Men who inherit a faulty gene have an increased risk of developing prostate cancer and can pass the gene on to their children.  Men with BRCA2 gene changes have an increased risk of developing breast cancer themselves.

45. Click for next activity Examine the psychological impact that the knowledge of being at a high risk of developing breast and ovarian cancer may have on Wendy.  Psychosocial aspects of risk appraisalPsychosocial aspects of risk appraisal  Breast cancer risk perception: what do we know and understand?Breast cancer risk perception: what do we know and understand?  Illness perceptions and distress in women at increased risk of breast cancerIllness perceptions and distress in women at increased risk of breast cancer Action box

46. Read about the role of BRCA1 and BRCA2 genes in the development of breast and ovarian cancer.  Breast and ovarian cancer geneticsBreast and ovarian cancer genetics  Handbook of genetic counseling/hereditary breast cancer Handbook of genetic counseling/hereditary breast cancer Action box Next

47. Wendy is offered a blood test to see if she has inherited the gene change. She leaves the clinic to think about it and decides to take the test. She returns to have a blood sample taken a month later. Click for next activity Genetic testing – Part II

48. Click below to view Wendy’s result. Action box Next Click here to see Wendy’s results Click here to see Wendy’s results

49. Wendy is very pleased that she and her children are now at population risk of breast and ovarian cancer. Neither she nor they need to consider prophylactic surgery or have additional screening outwith the National Breast Screening Programme (NBSP). Click for next activity

50. Click for answers What is the risk to her children now? Action box options for educator- discussion What if Wendy’s test had shown a mutation?

51. Answer box Next What is the risk to her children now? Their risk is similar to that of the general population. Their risk is similar to that of the general population. What if test result was positive? Wendy would be at a very high risk of breast and ovarian cancer Wendy would be at a very high risk of breast and ovarian cancer 1:2 (50%) risk of passing the faulty gene to her children. 1:2 (50%) risk of passing the faulty gene to her children. Wendy would have additional options of MRI or prophylactic mastectomy. Wendy would have additional options of MRI or prophylactic mastectomy. Prophylactic bilateral salpingo-oopherectomy. Prophylactic bilateral salpingo-oopherectomy.

52. Optional activity Next  OPERA (Online Personal Education and Risk Assessment) is a Macmillan’s resource based on Guidance issued by the National Institute for Health and Clinical Excellence (NICE) to the NHS on assessing a woman’s risk of having familial or hereditary breast cancer.OPERA Macmillan  Some women attending the genetic clinic may have used this resource, so it may be useful for you to try it.

53. Congratulations! You completed this case study. Further reading