GENE CHANGES AND THE RISK OF BREAST CANCER

Breast cancer affects thousands of women every year, making it one of the commonest cancers in Australia.

The key to survival is early detection. If caught at a localised stage, the five-year survival rate is excellent (as high as 98%). Over 30% of women are diagnosed after the cancer has spread beyond this stage. With later detection the five year survival rate can drop below 50%.2

Breast Cancer tends to be classified into two types: familial and non familial.

FAMILIAL BREAST CANCER

Between 5 and 15 percent of women fall into this group.

If you have three or more relatives with the disease, you are likely to be referred to a familial cancer clinic where a genetic counsellor will talk to you about the possibility of taking a BRCA test. This test looks at two specific genes (BRCA 1 and BRCA 2) which, when mutated, may indicate a strong likelihood of developing breast or ovarian cancer.

Although risk in this group is very high, knowledge of the BRCA mutation and the availability of the BRCA test mean that identifying familial cancer risk is comparatively easy.

risk estimates for breast and ovarian cancer

NON-FAMILIAL BREAST CANCER

Between 85 and 95 percent of women fall into this group.

Certain clinical and genetic factors are known to be associated with breast cancer, such as a woman's age, the age she was when she had her first period or first child, as well as the number of biopsies she may have had. But until recently, population comparisons were all that could be used to establish risk.

Now, a link has been established between breast cancer and the presence of certain Single Nucleotide Polymorphisms (SNPs). These are genetic variations in your DNA, and if one or more of these SNPs are present, your risk may increase or decrease depending on your individual profile.

For the first time, it is possible for women in the non-familial group to be provided with a surveillance plan from a physician aimed at detecting the symptoms of breast cancer as early as possible.

For more information on survival rates, visit the USA National Breast Cancer website

FIND OUT MORE

If you would like to know more about breast cancer, visit the following sites:

Breast Cancer Network Australia A network of breast cancer consumer groups and individuals across the country. Breast Cancer Network Australia's role is to empower, inform, represent and link together Australians personally affected by breast cancer. It is driven by women who have themselves experienced breast cancer. www.bcna.org.au

Cancer Council Cancer Council Victoria is a non-profit cancer charity organisation involved in cancer research, patient support, cancer prevention and advocacy. www.cancercouncil.org.au

McGrath Foundation The McGrath Foundation is a breast cancer support and education charity in Australia, funding McGrath Breast Care Nurses in communities across Australia as well as educating young women to be breast-aware www.mcgrathfoundation.com.au

National Breast Cancer foundation The National Breast Cancer Foundation is Australia's only national not-for-profit organisation that raises funds to support research into every aspect of breast cancer and distributes funds on the basis of excellence. www.nbcf.org.au

BreastScreen Australia BreastScreen Australia is the national mammographic screening program. It provides FREE screening mammograms for women aged 50-69, with the aim of reducing deaths from breast cancer in this target group. To contact your state Breast Screen organisation contact 13 20 50 or go to the website www.cancerscreening.gov.au

Australians Women's Health Network The Australian Women's Health Network (AWHN) is the peak organisation for women's health in Australia. AWHN is a not-for-profit network run primarily by volunteers to maintain and advance a national voice on women's health through advocacy and information sharing. www.awhn.org.au

Australian Institute of Health and Welfare The Australian Institute of Health and Welfare (AIHW) is a major national agency set up by the Australian Government under the Australian Institute of Health and Welfare Act to provide reliable, regular and relevant information and statistics on Australia's health and welfare. www.aihw.gov.au

Breast Cancer Action Group The BCAG mission is to provide a "voice" for breast cancer affected people - wherever decisions about breast cancer are made - within areas of Government, health service provision, research, support and care services. www.bcagnsw.org.au

Breast Cancer Institute of Australia The Breast Cancer Institute of Australia (BCIA) fundraises nationally to support the ongoing national breast cancer research programs of the Australian New Zealand Breast Cancer Trials Group (ANZ BCTG). www.bcia.org.au

KconFab – Kathleen Cuningham Foundation National Consortium for Research on Familial Breast Cancer KconFab is a consortium of geneticists, clinicians, surgeons, genetic counsellors, psychosocial researchers, pathologists and epidemiologists from Australia and New Zealand. It aims to make data and biospecimens widely available to researchers for use in peer-reviewed, ethically-approved funded research projects on familial aspects of breast cancer. www.kconfab.org

Pink Hope A community focused on information, supporting and inspiring women and their families at a high risk of breast and ovarian cancer www.pinkhope.org.au

Sydney Breast Cancer Institute The Sydney Breast Cancer Institute is a treatment, education and research facility encompassing a network of Sydney's leading hospitals and research bodies. The institute works closely with other state medical and research organisations to complement the work being done in breast cancer treatment. The Institute offers comprehensive care through its multidisciplinary approach to breast cancer treatment. www.sbci.org.au

BreaCan BreaCan is an information and support service for people affected by a gynaecological cancer or breast cancer, their families and friends. It is a state-wide service available to people throughout Victoria. www.breacan.org.au

MedLinePlus Breast Cancer MedLinePlus is the National Institutes of Health's Web site for patients and their families and friends. Produced by the National Library of Medicine, it brings you information about diseases, conditions, and wellness issues in language you can understand. MedLinePlus offers reliable, up-to-date health information. www.nlm.nih.gov

Australian New Zealand Breast Cancer Trials Group (ANZ BCTG) The ANZ BCTG is Australia's national organisation dedicated entirely to breast cancer research. It conducts a National Clinical Trials Program for the treatment of all stages of breast cancer and for the prevention of breast cancer and is currently calling for volunteers for several trials. www.anzbctg.org

 

REFERENCES

1   www.aihw.gov.au/media-release-detail/?id=6442464713
2   www.aihw.gov.au/media-release-detail/?id=6442464713
3   www.nationalbreastcancer.org/edp/

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CASE STUDY – FAMILIAL CANCER

A woman was recently diagnosed with breast cancer. When her Oncologist noticed a strong family history (her Mother, Grandmother and Aunty passed away from Breast cancer), the oncologist had her talk to a Genetic Counsellor at her local Familial Cancer Clinic. The genetic counsellor produced an analysis of the family's cancer history which showed she qualified for a BRCA test. Genetic Technologies conducted the test. The test confirmed that she had the mutated gene, so her daughters were also recommended to have a predictive test which Genetic Technologies then carried out. Subsequently, one daughter was found to have carried the BRCA gene mutation. The daughter was then able to make an informed decision about her treatment options.