Episode 70. Familial Cancer Screen with Dr Lucy Gately - Part 2
Genetic testing for cancer is important for a small number of families at increased risk due to the inheritance of genetic mutations. Most commonly this involves the inheritance of breast cancer genes such as the BRCA 1 and 2 or colorectal cancer genes such as the Lynch syndrome genes. Although these only represent a small percentage of total cancers reported there is significant public interest in these syndromes.
Genetic testing for cancer is important for a small number of families at increased risk due to the inheritance of genetic mutations. Most commonly this involves the inheritance of breast cancer genes such as the BRCA 1 and 2 or colorectal cancer genes such as the Lynch syndrome genes. Although these only represent a small percentage of total cancers reported there is significant public interest in these syndromes.
We have a further discussion with Dr Lucy Gately from the Cabrini Family Cancer Clinic in this episode in regard to the BRCA 1 and 2 genes on chromosome 17 inherited by 1:400 women and men, and the Lynch syndrome genes which are accounted for by five mutations inherited by about 1:280 people. The Lynch syndrome is believed to affect about 80,000 Australians of whom perhaps only 5% know they have inherited this mutation. Whilst the BRCA 1 and 2 genes are associated with both breast and ovarian cancer in women, BRCA 2 inheritance may also imply an increased incidence of prostate cancer and breast cancer in men. Lynch mutations have been associated with up to 12 different forms of cancer although colorectal cancer and endometrial cancer are most highly represented by these mutations.
It is a great pleasure to discuss this fascinating subject in more detail with Dr Lucy Gately whose expertise on this complex subject is generously shared.
Useful references include:
- www.cabrinicancerclinic - BRCA gene mutations
- Genetic Testing Fact Sheet – www.cancer.gov
- Genetics: Breast Cancer Risk Factors – breastcancer.org
- BRCA 1 and BRCA 2 associated hereditary breast and ovarian cancer – www.ncbi.nlm.nih.gov
- Lynch syndrome – www.cancer.net
- What is Lynch syndrome – Lynch syndrome Australia – lynchsyndrome.org.au
- Understanding genetic tests for Lynch syndrome – Centre for genetics – www.genetics.edu.au
To be a guest on the show or provide some feedback, I’d love to hear from you: manager@gihealth.com.au
Dr Luke Crantock MBBS, FRACP, is a gastroenterologist in practice for over 25 years. He is the founder of The Centre for GI Health, based in Melbourne Australia and is passionate about educating General Practitioners and patients on disease prevention and how to manage and improve their digestive health.
Episode 69. Familial Cancer Screening with Dr Lucy Gately and Lynne McKay - Part 1
In the context of family cancer screening, genetic testing looks for specific inherited changes or variants in a person’s genes which may predispose them to an increased risk of developing a neoplasm. Harmful variants in some genes are known to be associated with an increased risk of developing specific cancers such as mutations to the BRCA 1 and 2 genes associated with breast and ovarian cancer and the Lynch genes associated with colorectal and endometrial cancer.
In the context of family cancer screening, genetic testing looks for specific inherited changes or variants in a person’s genes which may predispose them to an increased risk of developing a neoplasm. Harmful variants in some genes are known to be associated with an increased risk of developing specific cancers such as mutations to the BRCA 1 and 2 genes associated with breast and ovarian cancer and the Lynch genes associated with colorectal and endometrial cancer.
Alterations in tumour suppressor genes (loss of function) and proto-oncogenes (gains of function) are fundamental to our understanding of the science associated with family cancer syndromes and can be tested in the setting of family cancer screening clinics. The subsequent very important genetic counselling for patients and relatives who may have inherited such mutations involves discussing the risk of inherited cancer, individual risk screening and cancer risk reduction strategies.
In this episode, we are joined by Dr Lucy Gately and Lynne McKay from the Cabrini Family Cancer Clinic who have been instrumental in delivering one of Australia’s premier family cancer screening services and genetic counselling services to our community. Please welcome them to this conversation.
Useful references include:
- Family Cancer Clinic for Risk Assessment Advice and Testing – www.cabrini.com.au
- Family Cancer Centres – www.cancer.vic.org.au
- Genetic Testing for Cancer Risk – www.cancer.net
- Family Cancer Syndromes – American Cancer Society – www.cancer.org
- Cancer Genes – pubmed.ncbi.nlm.nih.gov
To be a guest on the show or provide some feedback, I’d love to hear from you: manager@gihealth.com.au
Dr Luke Crantock MBBS, FRACP, is a gastroenterologist in practice for over 25 years. He is the founder of The Centre for GI Health, based in Melbourne Australia and is passionate about educating General Practitioners and patients on disease prevention and how to manage and improve their digestive health.