Most People With Well-Known Cancer Gene Haven’t Been Tested For It | By @Ben Ryan | @Modern Medicine | Pharmative.com
Eight out of 10 people identified in a large cohort study as having either of the so-called BRCA1 or BRCA2 genetic variants that are associated with cancer were not previously aware of this fact. This under diagnosis, researchers believe, reveals a critical shortcoming in the effort to use genetic testing to help prevent cancer.
Scientists first established the BRCA1/2 genetic variant’s association with breast cancer in the mid-1990s. More recently, studies have found that the variants are also associated with a higher risk of ovarian, prostate and pancreatic cancer as well as melanoma.
Actress Angelina Jolie quite famously underwent a double mastectomy in 2013 as a prophylactic measure given that she had the BRCA1 genetic variant and her mother had died of cancer. This move was met with controversy from some members of the medical establishment who felt she acted hastily in undergoing the surgery.
Publishing their findings in JAMA Network Open, researchers conducted a cross-sectional study of more than 50,000 patients at a health care system in Danville, Pennsylvania, testing them between 2014 and 2016 for the BRCA1/2 variants. The cohort members had an average age of 60. A total of 267, or 0.5 percent, of the study participants were BRCA1/2 carriers, 55 percent of them women and 45 percent of them men. Of those who tested positive, 219, or 82 percent had not previously been tested for the genetic variation. This meant that just 18 percent of those with the cancer-associated genetic variants were already aware of their BRCA1/2 status. A total of 16.8 percent of the BRCA-positive group had a cancer associated with the genetic variants.
Have you been tested for genes associated with cancer?
Sources:
1) https://www.eurekalert.org/pub_releases/2018-09/yu-eot092018.php
2)https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2703131?resultClick=3 #Oncogenes#modernmedicine
Eight out of 10 people identified in a large cohort study as having either of the so-called BRCA1 or BRCA2 genetic variants that are associated with cancer were not previously aware of this fact. This under diagnosis, researchers believe, reveals a critical shortcoming in the effort to use genetic testing to help prevent cancer.
Scientists first established the BRCA1/2 genetic variant’s association with breast cancer in the mid-1990s. More recently, studies have found that the variants are also associated with a higher risk of ovarian, prostate and pancreatic cancer as well as melanoma.
Actress Angelina Jolie quite famously underwent a double mastectomy in 2013 as a prophylactic measure given that she had the BRCA1 genetic variant and her mother had died of cancer. This move was met with controversy from some members of the medical establishment who felt she acted hastily in undergoing the surgery.
Publishing their findings in JAMA Network Open, researchers conducted a cross-sectional study of more than 50,000 patients at a health care system in Danville, Pennsylvania, testing them between 2014 and 2016 for the BRCA1/2 variants. The cohort members had an average age of 60. A total of 267, or 0.5 percent, of the study participants were BRCA1/2 carriers, 55 percent of them women and 45 percent of them men. Of those who tested positive, 219, or 82 percent had not previously been tested for the genetic variation. This meant that just 18 percent of those with the cancer-associated genetic variants were already aware of their BRCA1/2 status. A total of 16.8 percent of the BRCA-positive group had a cancer associated with the genetic variants.
Have you been tested for genes associated with cancer?
Sources:
1) https://www.eurekalert.org/pub_releases/2018-09/yu-eot092018.php
2)https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2703131?resultClick=3
#Oncogenes #modernmedicine
very important