Genetic testing for breast cancer patients is becoming more common. Until the last few years, it was limited to searching for mutated versions of the BRAC 1 and BRAC 2 Genes.
New multi-gene panel testing is now available that reveals a patient's risks for other rare breast cancer gene mutations. The new test versions also test for a host of additional hereditary cancers. The knowledge gleaned from the tests are changing the way women and their families fight and prevent disease.
Dusk Tucker was diagnosed with breast cancer in 2015. Sadly, it was a family affair.
Tucker said, "We found out my cousin was also positive, found out my sister was also positive. Now we have three women in my family battling cancer."
Tucker alerted her oncologist about the multiple family member diagnoses. She was promptly referred to Sacred Heart Cancer Center genetic specialist, Lori Farmer. Tucker said Farmer ordered genetic testing right away. "She was smart enough to do a broad panel," she added.
The broad panel was a multi-cancer simple blood test. The same test can also be ran with a saliva sample, results typically take two to three weeks to return.
The test checks for elevated risks for 28 cancers. When Tucker's results returned, they showed she was positive for "Check 2", a breast cancer genetic mutation. Her older sister and cousin also tested positive for "Check 2." Farmer expanded, "It's only five to ten per cent of patients who carry these hereditary cancer genes, but because their risk of cancer is so much higher than the general population, that's the value in finding out who needs extra survelience and extra care."
Because Tucker and her two female relatives are "Check 2" positive, there is a fifty per cent change their other siblings and offspring are also carriers and have higher cancer risks. Tucker's younger sister was also tested. "She felt really guilty because she had to tell us it skipped her, but that was the best new I heard all day," Tucker smiled.
Tucker's positive result changed the way she tackled her treatment. With high odds of recurrence looming, she opted for a double mastectomy.
"I didn't need my breasts. They were going to try and kill me," she said emphatically. Farmer said genetic testing is a true "game changer" for cancer patients and gives doctors so many more options when it comes to treatment and prevention. "We look at surveillance, we look at; is there chemo prevention? We look at imaging modalities and we look at surgery," she explained.
Tucker's genetic panel revealed she also has a much higher risk of developing colorectal cancer. Because she knows that, Tucker is eating healthier and she'll have more frequent exams.
Her daughters, especially her oldest one, have taken their fifty per cent increased breast cancer risk seriously. "She took the bull by the horns. She addressed it with her doctor and they are now watching her closely," Tucker said proudly.
Not every family member has been as pro-active. Farmer says genetic testing results can create complicated family dynamics, and that unnecessary blame and guilt can surface.
Tucker's had a bit of that among older relatives. Never the less, she is very grateful for her new found knowledge and is pragmatic about the future. She shrugged, "It doesn't really matter where it comes from.
The fact is, it's there. And it needs to be addressed. If you can prevent going through the things some of us have had to go through, why wouldn't you?"