List of genes linked to breast cancer grows, enabling patients to take control of their health

Friday, November 03, 2017 12:11PM
A Katy mother opted to opting both breasts, even though she's perfectly healthy.


KATY, Texas - At 32 years old, Kristen Adams has made a big decision. A Katy mother of two and boot camp fitness instructor, she has taken on all the risks of major surgery and opted to remove both breasts, even though she's perfectly healthy.

"I just feel like none of us are promised tomorrow for anything, you know, so whatever I can control, I'm gonna do it," said Adams, just a few days before her surgery.

For generations, breast cancer claimed the lives of so many women in her family, including her great-grandmother, grandmother and aunt -- a disturbing connection made clear in her mother's visit with a genetic counselor.

"They sat down and did literally a tree, a family tree graph and started blacking in who on this side, now who on this side," said Adams' mother Katherine Ramey of her meeting with the specialist. "Every female on both sides got breast cancer before they were 50, which was important --and all died fairly early," Ramey realized.

Yet, despite the family history, no one in the family had ever tested positive for a cancer-linked gene.

"It's this dichotomy -- you see your family members suffer and go through this but at the same time, science is telling you there's no reason for it, so what are you supposed to do?" said Adams of her frustration.

However, it all changed when Adams' OBGYN did an expanded blood test in late 2016.

"This is the first time that someone in our generation has come back positive for something and it's the CHEK2 gene," Adams said.

RELATED: New at home test can determine your risk for breast cancer

Similar to the BRCA gene actress Angelina Jolie famously battled with a double mastectomy, the CHEK2 gene mutation allows cells to grow and divide rapidly in an uncontrolled way, often leading to tumors. Yet, unlike BRCA testing that's been around for 20 years, Dr. Liz Lee, a breast surgeon affiliated with Memorial Hermann Memorial City Medical Center, says doctors added the CHEK2 gene to testing panels just a few years ago.

"Now we have about 10, 11 genes on that multi-gene testing panel," said Dr. Lee of new research and discoveries. "There's multiple genes that we are identifying that have an increased risk of breast cancer and in the future, we may identify other genes that are associated with breast cancer that we don't know about yet."

In late October, researchers from 300 institutions around the world discovered 72 otherwise unknown gene mutations that lead to the development of breast cancer, bringing the total number of known variants associated with breast cancer to nearly 180. The findings were published in the journals Nature and Nature Genetics.

While not every cancer is caused by a gene mutation, Dr. Lee says Adams' CHEK2 gene increases the risk of a breast cancer diagnosis by 20 to 37 percent.

According to the Susan G. Komen organization, among the better known gene mutations that can increase the risk of the breast cancer are BRCA1, BRCA2, CHEK2, ATM, CDH1, NBN, NF1, PALB2, PTEN,STK11, STP53.

Dr. Lee says it's important patients with a family history of cancer talk about their entire family history with their doctors. More information may identify different cancer-linked genes and lead to discoveries that could save lives.

"Most of the time, when patients come to see me, there is a lot of anxiety, fear and what I typically hear is 'my breasts are like walking time bombs'," said Dr. Lee.

Instead of waiting for the explosion of a diagnosis, Kristen Adams says her mastectomy is her way of taking control of not only her health but her future.

"I feel like in a few months I'll be able to kind of breathe and this will be something that I did to stay alive for my family," said Adams.


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