1. Breast cancer case study
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level 11 – Master

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 in the relevant section of the learning resource “Cancer Genetics”, which is available for download from the ScotGEN Website.
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3. Click for suggested learning outcomes
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.
The orange boxes are “practice boxes", they suggest some practical activities aimed to deepen your knowledge about the topic.
Click for suggested learning outcomes

4. Learning outcomes
Analyse the role of genes in the development of breast cancer
Appraise the relationship between the underlying basis and psychosocial impact of familial predisposition to breast cancer
Critically explore the role of the genetic services in providing risk assessment, diagnosis, management options & genetic testing in the Scottish context
Notes? Please let me know if you would like to add something here..
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5. 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.
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6. 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.
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Index

7. Index Confirmation of cancer Risk assessment Clinic appointment
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
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8. Breast Cancer case study – Part I
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
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9. When the completed family history form is returned to the genetic service the family tree is drawn.
Practice point
Some Cancer Genetic services ask the person to bring the completed form to the clinic appointment, others draw a family tree at the appointment.
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10. This activity should take about half an hour.
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 Adam
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 lines
Click here to see an example of family history form used by other centres.
Click here to see a patient leaflet about filling in the family history form.
This activity should take about half an hour.
Click for answer

11. Answer box
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.
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.
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12. Click for next activity
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.
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13. Why should we confirm cancers?
Action box
Why should we confirm cancers?
What sources can be used to confirm a diagnosis of cancer?
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14. Sources used to confirm a cancer diagnosis.
Answer box
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)
Why should we confirm cancers?
Some people share the wrong information with their family.
Confirm the aetiology of specific cancers.
Confirm age at diagnosis.
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.
You could discuss as a group, any difficulties you may experience with getting information to confirm cancers.
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15. Examine the specimen documents provided
Optional activity
Examine the specimen documents provided
completed consent form from Mollie Jenkins , Polly Briggs and Jane Brown.
death certificate
letter from hospital notes (Jane Brown)
cancer registration form (Mollie Jenkins and Polly 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.
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16. Confirmation of cancers specific to this case study
Action box
Confirmation of cancers specific to this case study
Look again at Wendy’s family history that you have drawn.
Can you say which cancers in her family history should be confirmed ?
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17. Answer box
Mollie Jenkins Jane Brown Polly Brigs Beryl Smith and Sam Brigs cancer should be confirmed.
Annie Silver and Kate Hare should be confirmed as well but there is not enough information about them to find them on a cancer register and confirm them.
In Scotland clinical genetics centres have the support of ISD genealogy service (aim 7) for help with tracing relatives when little information is available from the family.
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18. Click here to see updated pedigree
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.
Action box
Can you add this extra information to your previous hand drawn pedigree?
Click here to see updated pedigree
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19. Click for next activity
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.
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20. Click for next activity
Practice point
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.
In England and Wales the NICE guidelines are used.
Action box
Access guidelines
Read and understand these applied in cancer genetics practice
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21. Action box – Level 11
Can you assess Wendy’s risk using updated family history and Scottish Guidelines?
List elements of personal history that can be used in assessment of breast cancer risk.
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22. Answer box
Answers expected are: being older, body mass index, menarche, menopause, parity, breast feeding, COCP and HRT, history of benign breast biopsy.
Read the following articles:
“Breast cancer risk factors”
“Breast Cancer (Female)”
“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”
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23. Clinic appointment
Mollie and her sister Wendy attend the genetic clinic together.
The genetic counsellor explains the causes of breast cancer.
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24. Action box 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.
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25. Click for next activity
Action box
Action box
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.
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.
Click for animation
Sporadic breast cancer
No mutation inherited at birth
Radiation
Other unknown factors
Dietary and hormonal factors
Breast cancer
Familial breast cancer
Mutation inherited at birth
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26. 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.
Action box
Read these articles:
Types of genes involved in cancer
Tumour suppressor genes: guardians of our cells
Cancer and genes
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27. Mammography
Mammography is the key screening strategy in the moderate risk group.
The evidence for its use is shown in the NICE guideline document.
Action box
Click here for more information about mammography.
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28. Action box
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.
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29. Action box
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.
Answer box
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.
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30. Action box
Open this picture of a normal mammogram.
What is a mammogram?
What does it do?
What does it involve?
Analyse the psychological impact that the knowledge of being at an increased risk of developing breast and ovarian cancer may have on Wendy.
Read about and reflect upon how a individual’s reaction to risk may depend upon the person’s coping approach and life experience.
Read the following articles:
Psychosocial aspects of risk appraisal
Breast cancer risk perception: what do we know and understand?
Illness perceptions and distress in women at increased risk of breast cancer
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31. Action box
Discuss the pros and cons of mammography in those increased familial risk including:
false positive and false negative rates
what happens if something found
radiation risks
Answer box
Read the following articles about mammography
Advice about mammography for a young woman with a family history of breast cancer
Mammographic screening for young women with a family history of breast cancer: knowledge and views of those at risk
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32. Action box
Read the following two articles:
Hereditary breast and ovarian cancer
Breast and ovarian cancer risk
Reflect on the differences between NICE guidance on risk assessment and the Scottish guidelines.
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33. First part of the learning object finishes here.
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.
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34. (most relevant to genetic counsellors)
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.
Look at the latest version of the family history.
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35. Action box
There are elements of personal history that can be used in assessment of breast cancer risk: being older, body mass index, menarche, menopause, parity, age at first pregnancy, breast feeding, COCP and HRT, history of benign breast biopsy. (answer box)
Read this article about breast cancer risk factors.
Summarise the risk factors and discuss how each one might impact upon Freda.
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36. Remember to refer to the Scottish guidelines.
Action box
What is Freda’s risk of developing breast cancer?
Remember to refer to the Scottish guidelines.
Click for answer

37. Answer box
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.
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38. Background rate of breast cancer in population Age profile
Action box
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
Click here to see an example of a letter to Freda
Click here to see an example of a letter to the GP
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39. (most relevant to genetic counsellors)
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.
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40. Remember to refer to the Scottish guidelines.
Action box
What is the family risk now?
Remember to refer to the Scottish guidelines.
Click for answer

41. Remember to refer to the Scottish guidelines.
Action box
What is the family risk now?
Remember to refer to the Scottish guidelines.
Answer box
The new family history information changes Wendy’s risk to high based on Scottish and NICE guidelines.
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42. Genetic testing – Part I
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.
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43. Practice point
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.
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44. Click here to see Mollie’s test result
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
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45. Action box
What is Wendy’s risk of breast cancer now?
Is she at risk of any other type of cancer?
Click for answer

46. Wendy has a 50% or 1:2 chance of inheriting the faulty gene.
Answer box
Working copy of BRCA gene
Mum
Dad
Faulty copy of BRCA gene
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]
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47. Answer box Mum Dad Children
Working copy of BRCA gene
Mum
Dad
Faulty copy of BRCA gene
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.
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48. Action box
Read about the role of BRCA1 and BRCA2 genes in the development of breast and ovarian cancer.
Breast and ovarian cancer genetics
Handbook of genetic counseling/hereditary breast cancer
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49. Click for next activity
Genetic testing – Part II
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.
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50. Click here to see Wendy’s results
Action box
Click below to view Wendy’s result.
Click here to see Wendy’s results
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51. Click for next activity
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).
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52. Action box
What is the risk to her children now?
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53. Action box
What is the risk to her children now?
Answer box
Their risk is similar to that of the general population.
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54. Click for next activity
Genetic testing – Part III
Myra decides that she feels ready to have a blood test to see if she has inherited the gene change. She attends the clinic to discuss about it with the genetic counsellor and she is given more time to think about it.
She returns to have a blood sample taken a month later.
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55. Click here to see Myra’s results
Action box
Click below to view Myra’s result.
Click here to see Myra’s results
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56. Action box
What is Myra’s risk of breast and ovarian cancer now?
What is Myra’s children risk of inheriting the BRCA2 mutation?
What screening and other care would Myra be offered now?
Click for answers

57. Action box
What is Myra’s risk of breast and ovarian cancer now?
What is Myra’s children risk of inheriting the BRCA2 mutation?
What screening and other care would Myra be offered now?
Answer box
Myra is at a very high risk of breast and ovarian cancer (~80% risk of breast cancer and ~65% risk of ovarian cancer).
1:2 (50%) risk of passing the faulty gene to her children.
Myra would have additional options of MRI or prophylactic mastectomy.
Prophylactic bilateral salpingo-oopherectomy.
NICE guidance on Women with breast cancer in the family
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58. Action box
Imagine you are explaining the options available to Myra. Write down what you would say to her
Write a letter to Myra summarising your consultation
Attend an MRI breast screening session at your local centre
Attend a breast clinic or meet with your local breast care nurse to learn about breast cancer diagnosis
Look at Wendy Watson’s website and reflect upon the real life stories featured.
Reflect upon the different circumstances of Myra and Wendy
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59. Optional activity
Try OPERA (Online Personal Education and Risk Assessment), 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.
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60. You completed this case study.
Congratulations!
You completed this case study.
Further reading