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FACET - European Journal of Cancer Care May 2005. Cancer genetics – an overview of an information project Pithers, A. 1 & Mackay, J. 2. Why is there a need for a genetic information project?

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Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project

Pithers, A.1 & Mackay, J.2

  • Why is there a need for a genetic information project?

  • An increasing number of callers to the CancerBACUP telephone helpline are concerned about familial risk

  • The majority of people worry unnecessarily

  • Many people are misinformed regarding risk factors

  • Cancer genetics makes up more than 25% of all referrals to regional genetic services in the UK

Slide One

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project(continued)

  • Providing high quality information

  • Booklet

    • Understanding Cancer Genetics

  • ‘Low Risk’ leaflets

    • Cancer (generic)

    • Breast cancer

    • Ovarian cancer

    • Bowel cancer

Slide Two

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

Understanding Cancer Genetics

Slide Three

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

Are you worried about… cancer?

Slide Four

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

Are you worried about…

breast cancer?

Slide Five

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project(continued)

Are you worried about…

ovarian cancer?

Slide Six

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

Are you worried about… bowel cancer?

Slide Seven

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • Cancer genes –1

  • All cancers are caused by changes in the genetic material

  • Multi-step theory of carcinogenesis

  • In most common cancers these genetic changes occur sporadically (i.e. there are no inherited genetic changes)

Slide Eight

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • Cancer genes – 2

  • There are several types of cancer gene. The main types are:

    • Oncogenes

    • Tumour suppressor genes

Slide Nine

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • Two-hit hypothesis and inherited cancer risk

    • First described by Knudson in the development of cancer in retinoblastoma

    • Between 5 and 10% of cancers are thought to be linked to an inherited genetic mutation

    • The inherited genes that predispose for breast/ovarian cancer and familial adenomatous polyposis are malfunctioning tumour suppressor genes

Slide Ten

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • The most common cancers in which an inherited genetic mutation may play a crucial role are:

    • Breast/ovarian cancers

    • Bowel cancer (HNPCC, FAP)

    • Others: prostate, pancreatic and testicular (but no genetic tests available for these yet)

    • Very rare genetic disorders, for example – Li-Fraumeni Syndrome, MEN1, von Lippel-Hindau disease, neurofibromatosis and retinoblastoma

Slide Eleven

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • Main messages to those referred to cancer genetic services:

    • How the NHS delivers cancer genetic services

    • How is risk assessed

    • Why not everyone can have a genetic test and why you often don’t get meaningful results from a genetic test

    • Many people have to continue living with uncertainty

    • Psychosocial consequences of living with uncertainty

Slide Twelve

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • Genetic testing

  • A two step process; mutation searching and predictive testing

  • If you don’t have cancer yourself or don’t have a living relative with cancer, you cannot be tested on the NHS

  • Only if a mutation is found (and this is often not the case) can predictive testing be offered to other family members

  • Only about 1 in 10 genetic tests finds a mutation using our present technology (even in high risk families)

  • Difference between a negative and inconclusive test

Slide Thirteen

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • What if no mutation is found?

  • The test might have missed the mutation

  • The entire gene hasn’t been tested

  • There is a faulty gene in the family that has not been identified yet

  • The cancer in the family or person isn’t actually due to an inherited gene and the clustering of cases of cancer has occurred by chance

Slide Fourteen

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • The importance of explanation of risk

  • You don’t inherit cancer from your family, but you might inherit an increased risk of developing cancer

  • How risk is explained and understood is vital to the effectiveness of any genetic information provision

  • Focus on genes must not diminish the importance of environmental factors

Slide Fifteen

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • Some important issues to consider

  • The difference between screening and prevention Familial consequences (who to tell, parentage issues etc.)

  • Insurance implications

  • Other possible forms of discrimination

  • Pharmacogenetics – the future

Slide Sixteen

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • Cancer genetics – summing up

  • Cancer genetics referrals now form a major part of genetic services Only 5-10% of cancers are clearly linked to a genetic mutation

  • Cancer genetic testing does not banish uncertainty

Slide Seventeen

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


Facet european journal of cancer care may 2005

FACET - European Journal of Cancer Care

May 2005

Cancer genetics – an overview of an information project (continued)

  • References and further reading

  • Harper P.S. (2004) Practical Genetic Counselling (6th edn), Arnold Publishers, London, UK.

  • Skirton, H. & Patch, C. (2002) Genetics for Healthcare Professionals, Bios Scientific Publishers, Oxford, UK.

  • Kingston, H.M. (2002) ABC of Clinical Genetics (3rd ed), BMJ Books, London, UK.

  • Websites

  • CancerBACUP www.cancerbacup.org.uk

  • British Society for Human Genetics www.bshg.org.uk

  • Public Health Genetics Unit www.phgu.org.uk

  • Association of British Insurers www.abi.org.uk (produces the publication Insurance and Genetic Tests – what you need to know)

  • National Institute for Clinical Excellence www.nice.org.uk

Slide Eighteen

*Click on “View”; “Notes Page” for explanatory notes

slides available at: www.blackwellpublishing.com/journals/ecc


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