Joy's Story - The Positive Impact of Cancer

Autosomal dominant inherited breast cancer; identification of a BRCA2 gene alteration following family

Joy was identified as having an alteration in the BRCA2 gene (alterations in this gene can increase the risk of getting breast and ovarian cancer in women) following cascade screening. Her cousins were identified as having the BRCA2 gene alteration and were advised to contact other family members, including Joy. She describes her experience and the effect on her own immediate family.


  • reflection Point for reflection

    Compare Joy’s experience of receiving the results of her thyroid biopsy with how she received the results of her genetic testing. What factors do you think shaped her experience in both events?

  • Activities Activities

    1. Joy describes how she feels about her sons’ decision not to be tested, saying "It’s their decision. I would like to know, if there was a way I could have the test done on their behalf and know the result without telling them, that obviously would satisfy my wants, you know, of the knowledge, but they decide and so their decision we have to wait…"
      • Discuss the ethical issues that would arise if a mother could learn the genetic status of her adult children without their consent?
    2. Joy says "the counsellor gave me the results, the one I’d seen previously gave me the results and by then I think she understood me a little and knew how I would react whether it was positive or negative. She knew how I would react and so it was good to have someone too that I was familiar with".
      • It is not always possible for a patient to be seen by the same health professionals each time. Joy indicates the benefits of being given the test results by someone who might understand how she would react. What steps would you take to communicate test results effectively to someone in similar circumstances as Joy if you hadn’t met her before?
    3. Imagine that, in your day-to-day practice, you were to meet someone like Joy who was concerned about a risk of familial breast cancer:
    4. Joy talks about the implications that having a BRCA2 gene alteration has for her three sons. Using some of the websites signposted in the Further Information section, find out what you can about familial breast cancer in men, including what the incidence is, what the increased risk of developing breast cancer would be in a man with a BRCA2 gene alteration, and whether a BRCA2 gene alteration is also associated with an increased risk of developing other types of cancer in males. The Macmillan website has specific webpages on breast cancer in men ( that you might like to refer to.
    5. BRCA2 gene alterations are usually inherited in an autosomal dominant way. Find out more about autosomal dominant inheritance from the resources on the NGEDC website ( and then explain autosomal dominant inheritance to a partner or colleague.
  • quotes Quotes to reflect upon

    "It was purely my decision, the condition, the testing, how it was done, what would happen was all discussed and explained to me and my decision then was to have the test."

    "Could you tell us about what the actual test involved?Having blood taken, as simple as that, just having blood taken."

    "So would you say in general the health professionals that you encounter have been knowledgeable about the BRCA2 gene and the implications of having a gene change?I would say the genetics services obviously, but the others then it’s rarely mentioned or discussed at all and so I wouldn’t know if they knew about it and how it affects people."

    "Treat it as a positive thing rather than a negative because having the BRCA2 altered gene isn’t a death sentence in itself and so treat it as a positive because then you’re attending counselling sessions, you’re attending follow-ups with professionals who can help you"

    "They [Joy’s sons] have made the decision not to have the test at this time. I’ve tried to explain to them in simple terms what it involves but they have decided that at the moment they don’t want to be tested…It’s their decision. I would like to know - if there was a way I could have the test done on their behalf and know the result without telling them…. But they decide."

  • Further Information Further Information

How does this story relate to professional practice?

  • cogs Nursing Competencies

    [We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here]

    Joy says "Some of my cousins who had had breast cancer had been referred to the genetic services and they were told, by giving their own small family tree, that other cousins ought to be referred". Here the health professional(s) involved recognised, through an understanding of the importance of family history in assessing predisposition to a condition, that the family would benefit from genetics services and information (NCG1). Joy’s story also illustrates the benefits of families who communicate well and their role in cascade testing (NCG 5).

    Following Joy’s referral to the genetics service for BRCA2 gene testing, she was given the information she needed in a clear format, as Joy says, "the explanation was excellent". This shows an appreciation of tailoring information to the client (NCG 2). Joy also praises the genetics service for answering her questions. She says that if they don’t know the answers, they will find out for her. This demonstrates that they will find current and credible information for a client (NCG 7).

  • cogs Midwifery Competencies

    Content relating to the midwifery competencies in genetics will appear here shortly.

  • cogs Learning Outcomes for GPs

    Content relating to the learning outcomes in genetics for General Practitioners will appear here shortly.

  • cogs Learning Outcomes for Medical Students

    Content relating to the learning outcomes in genetics for medical students will appear here shortly.

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