Genetic Susceptibility

Chapter 2: Genetic Susceptibility

Overview:

This chapter discusses genetic susceptibility under the following headings:

• Familial ovarian cancer
  • Includes criteria for ovarian cancer risk
  • Suggests management options for women with an increased risk of ovarian cancer
• Hereditary non-polyposis colorectal cancer (HNPCC)
  • Contains an in-depth description of HNPCC
• Includes criteria for HNPCC cancer risk
  • Suggests management options for women with an increased risk of HNPCC

Description:

Cancer genetics is a rapidly developing field of medicine. It has long been recognised that inherited genes play a role in rare forms of cancer, such as retinoblastoma and neurofibromatosis. However, it has been only in the past 5-10 years that rapid progress has been made in understanding the role played by inherited genes in more common cancers such as breast cancer, ovarian cancer and colorectal cancer. This chapter focuses on gynaecological cancers. In particular, ovarian cancer is associated with two specific inherited cancer syndromes: hereditary breast and ovarian cancer; and hereditary non-polyposis colorectal cancer (HNPCC). Endometrial cancer is also a feature of HNPCC, and is discussed in this context.

Topics:

• Familial ovarian cancer
  • Family history and risk
  • Assessment of family history
  • Inheritance and genetic testing
  • Management of ovarian cancer risk
• Hereditary non-polyposis colorectal cancer
  • Description
  • HNPCC criteria
  • Microsatellite instability
  • Immunohistochemistry
  • Genetic testing
  • Management of endometrial cancer risk
• Genetic testing
  • Definitions, advantages, and disadvantages
  • Mutation analysis
  • Presymptomatic testing

Speakers / Authors:

Diane Stirling
Diane is a registered general nurse and registered genetic counsellor. She holds a bachelor’s degree in science (nursing studies in genetics) and a specialist practitioner qualification in genetics. Diane has worked as a Macmillan Clinical Nurse Specialist in the field of genetics for the past ten years within the South East of Scotland Clinical Genetics Services.

Diane has provided nursing representation on a variety of national working parties. As a member of the Scottish Intercollegiate Guidelines Network - Epithelial Ovarian Cancer Group, she was involved in the development of evidence-based guidelines in the management of this disease, and as a member of the UK Association of Genetic Nurses and Counsellors Education Working Group, she was involved in the development of a registration process for genetic counsellors. Diane now functions as an assessor within this process, and also coordinates a cancer genetics course at Queen Margaret University College (Edinburgh, Scotland).

Sheila Slater
Sheila is a registered mental nurse and registered general nurse. She has a bachelor’s degree in science (hons) in health psychology, and holds qualifications in counselling. Sheila is currently undertaking a postgraduate diploma in genetic counselling. She has interests in the psychology and ethics of clinical genetics, and is a lecturer in genetics and cancer genetics at Queen Margaret University College (Edinburgh, Scotland). Sheila was the coordinator for a recent national study looking at the role played by genes in the development of endometrial cancer in women diagnosed under the age of 55 years.

Professional Reviews: