Genetic testing can detect the risk of breast, ovarian, prostate and pancreatic cancers.
“It is estimated that in Australia today, about 1 in 400 women are at the highest risk of breast cancer because they carry a BRCA1 or BRCA2 gene mutation.” Dr Nick Zdenkowski of Breast Cancer Trials said about the BRCA gene mutation.
“Mutations in breast cancer gene BRCA1 increases the risk of breast cancer, ovarian cancer, while BRCA2 increases the risk of breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer,” he continued.
Anyone who has a strong family history of breast or ovarian cancer is encouraged to get genetic testing.
“Genetic testing is often offered to women who are diagnosed with breast cancer at an early age (35 and under), who have a strong family history or who are diagnosed with certain types of breast cancer such as ‘triple negative breast cancer’. If a gene mutation such as in BRCA1 or BRCA2 (the most common types) is identified, this can be associated with a family history of breast, ovarian, prostate and some other types of cancer. It is important to note that family history can come from your mother or father’s side of the family,” said Dr Zdenkowski.
There continues to be huge advances in the discovery of cancer-causing genes with people able to test for multiple genetic defects through screening.
“There are many genes associated with breast cancer, and our knowledge about these genes continues to increase. However, we still only know about half of these genes. In addition to BRCA1/2, those that we know about include PALB2, CHEK2, ATM, TP53, PTEN, RAD51 and BARD1,” continued Dr Zdenkowski.
Genetics and breast cancer, genetic testing, breast cancer research and more will be the topic for the next Breast Cancer Trials Q&A featuring the country’s top experts and hosted by Annabel Crabb. Karen will also be on the panel to talk about her ‘first hand’ experience of the impact of genetics on familial cancer diagnoses.
Case Study:
Fifty-two year old Karen Alexander’s BRCA1 gene mutation discovery uncovered a genetic mutation lineage that ran through two families and multiple generations.
Karen was forty years old when she was diagnosed with breast cancer, following the discovery of a lump whilst she was on holiday. Initially, her medical team thought it was going to be a straightforward lumpectomy to get rid of the cancer, but when they recognised the type of breast cancer she had and her age, they recommended she get genetic testing.
The genetic testing uncovered that Karen had the BRCA1 gene mutation meaning she had a 72% chance of getting breast cancer in her lifetime and a 44% chance of ovarian cancer. Karen had not been aware of any breast cancer history in her family at this time.
“My specialists said they could monitor for breast cancer, but the ovaries had to go once they realised I had the BRCA gene mutation,” said Karen. “However, I decided to have the mastectomy and breast reconstruction. I considered not having a reconstruction, but I decided to go ahead because I didn’t want to think about it again, so I didn’t want to think about clothes and so forth. I just wanted to put it all behind me.”
Following the discovery of her BRCA gene mutation, Karen spoke to her mum, who remembered that there were some pockets of cancer in her grandfather’s other family.
“My grandfather married twice and, once we discovered the gene mutation, my mum got in touch with my grandfather’s first wife and her family and found that there were a number of people who had had breast or ovarian cancer,” said Karen. “We realised that my grandfather was the carrier of the gene mutation. My family has all been tested now and my aunts, two girl cousins and one boy cousin all have the gene mutation,” she continued.
The discovery of the gene mutation in one of her aunts led to her electing to have her ovaries removed at which point she discovered she had Stage 1 ovarian cancer.
“The discovery of the gene mutation has meant that we are all much more vigilant,” said Karen.
The Q&A will take place on Monday 24th October 2022 from 5-6.30pm and is free. People who are interested, simply need to register here to participate.
Curious about DNA testing? Learn more at our clinic https://agelessbyrescu.com.au/ageless-by-rescu/ and listen to this episode of Ageless by Rescu Podcast. To learn your DNA and take power over your health, use the Ageless link and include the code Ageless to receive C$50 off your totalPower or totalPower Connect order. Each totalPower test includes 70 areas and 200+ genetic variations tested, recommendations, and a live video consult with a nutritionist.
