Scientists closer to understanding gene mutations that cause breast cancer
TECH & SCI
By Guo Meiping

2017-06-22 17:45 GMT+8

Australian researchers are now one step closer to understanding gene mutations that can cause breast cancer.

Scientists from the University of Melbourne and Peter MacCallum Cancer Center have for the first time accurately established the likelihood that carriers of the BRCA1 and BRCA2 gene mutations will contract cancer. The study was published on Wednesday. 

The BRCA mutations

Breast cancer. /VCG Photo

The BRCA mutations are hereditary issues whereby chromosomes within the BRCA1 or BRCA2 genes, both of which are tumor-suppressing genes, are misplaced, drastically increasing the likelihood of developing breast or ovarian cancer.

The study found that women with the BRCA1 mutation had, on average, a 72-percent chance of developing breast cancer by the time they were 80 years old and a 44-percent possibility of contracting ovarian cancer.

This axial cross sectional CT scan through the pelvis of a women with pain shows a large multilobulated cystic mass (green) which is a cystadenocarcinoma of the ovary. /VCG Photo

For women with the BRCA2, the chances were slimmer at 69- and 17-percent respectively, for breast and ovarian cancer.

Almost 10,000 women from around the world with the mutations were assessed over 20 years for the landmark study.

'More accurate, precise and believable'

University of Melbourne. /VCG Photo

John Hopper, the leading researcher from the University of Melbourne, said that the fact that researchers were able to analyze the participants and their risk factors over the course of 20 years rather than assess retrospective data made the study the most reliable one done yet.

"Our study looked at women and followed them forward in time. Previous studies had looked backwards, and those studies are prone to getting the wrong answer," Hopper told Xinhua.

"Our estimates were thankfully close to past estimates, but were more accurate, precise and believable."

 Stay vigilant, check constantly

Mammography. /VCG Photo

Hopper said that once women with either mutation had hit the highest risk age group, the risk stayed consistent for the rest of their lives.

"An important finding was that the carrier's risk was virtually the same from age 50 years on, meaning that carriers should continue to be vigilant with screening," he added.

Researchers found that women with the mutations were at a relatively low risk until they hit their 30s.

Check constantly. /VCG Photo

Hopper said this research should encourage women around the world with the mutations to have regular checks for breast and ovarian cancer.

"They don't need to undertake extensive screening at young adult ages unless there were other indications, such as strong family history of early onset disease, but need to be vigilant once their risk have achieved their maximum plateau, and maintain screening," he said.

"That is, our study has provided information on the risk as it changes with age and this can be used to hopefully make screening and prevention more effective." Hopper added.

(Source: Xinhua)

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