15 year breast cancer study shows trend towards increased referral to genetic screening
Wednesday 10th May, 2017
The Royal Australasian College of Surgeons (RACS) Annual Scientific Congress (ASC) was told in Adelaide today that it
seems rare not to know of someone who has been affected by breast cancer.
According to Cancer Australia, breast cancer remains a leading health issue in Australia, with 1 in 8 women and 1 in 719
men being diagnosed with the disease by age 85.
Dr Melanie Crispin, a Surgical Registrar at St. Vincent’s Hospital in Melbourne, told surgeons that while breast cancer
was not inherited, a small number of women did inherit a genetic predisposition to the disease.
“Approximately 5 –10 per cent of breast cancers occur in women whose families have a genetic fault.
“This is usually passed down through the family and exposes members to a greater risk of developing breast cancer.
“The Breast Cancer Susceptibility Gene (BRCA1 and BRCA2) are mutations that are connected to hereditary breast cancer.
“Genetic testing of individuals is based on a risk assessment from family and personal history, as well as various
clinical criteria. Various models exist for estimating the likelihood of BRCA mutations.”
Dr Crispin’s 15 year study looked into the patterns of referral to genetic screening and timing of testing, and
evaluated the impact on treatment decisions in 150 young people aged 21-40 years of age, diagnosed with breast cancer
over the last 15 years at Western Health. Her research concluded that there was a trend towards increased referral to
genetic screening over the 15 years, as well as a trend towards increasing genetic testing.
“This is due to a number of factors including changes in available genetic testing technology, as well as new available
options for neoadjuvant chemotherapy for high risk breast cancer sub-types, and immunotherapy for high risk sub-types.
“The impact of a positive BRCA genetic mutation is that patients received bilateral mastectomy and their families were
offered genetic screening, however our numbers are too small in this study to make recommendations about surgery with
regard to genetic testing timing, so we would like to address that in a future study,” she said.
About RACS
RACS is the leading advocate for surgical standards, professionalism and surgical education in Australia and New
Zealand. The College is a not-for-profit organisation that represents more than 7000 surgeons and 1300 surgical trainees
and International Medical Graduates. RACS also supports healthcare and surgical education in the Asia-Pacific region and
is a substantial funder of surgical research. There are nine surgical specialties in Australasia being: Cardiothoracic
surgery, General surgery, Neurosurgery, Orthopaedic surgery, Otolaryngology Head-and-Neck surgery, Paediatric surgery,
Plastic and Reconstructive surgery, Urology and Vascular surgery. www.surgeons.org