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Expanded genetic testing points more women to screening breast MRI

Testing for gene mutations past simply BRCA1 and BRCA2 would point out screening breast MRI and different proactive measures for a lot of women who wouldn’t have been thought-about candidates for such measures going by household historical past alone, in accordance to a large-sample research revealed on-line Dec. 21 within the Journal of the American College of Radiology.

In introducing their findings, Eric Rosenthal, PhD, ScM, of Myriad Genetic Laboratories in Salt Lake City, and colleagues word that breast MRI screening is really helpful for women whose household historical past points to a lifetime danger for breast most cancers of larger than 20 %.

Meanwhile, BRCA1 and BRCA2 mutations account for about 20 to 25 % of hereditary breast cancers and about 5 to 10 % of all breast cancers, in accordance to the National Cancer Institute.

Rosenthal and colleagues designed their research to quantify the impression of testing for genes aside from BRCA1/2 and to gauge the extent to which mutation carriers in these genes would have been recognized as candidates for enhanced screening on the idea of household historical past alone.

They derived their knowledge from exams ordered for 194,107 women utilizing a 25-gene hereditary most cancers panel between September 2013 and February 2016 at Myriad Laboratories.

Along with BRCA1/2, the panel included seven further genes recognized to be related to a lifetime danger of higher than 20 % for breast most cancers. The further genes have been ATM, CHEK2, PALB2, TP53, PTEN, CDH1, and STK11.

Women discovered to carry pathogenic variants (PVs) have been evaluated to assess whether or not they would have been discovered to be at higher than 20 % lifetime danger on the idea of household historical past.

The staff discovered that, in complete, 9,751 PVs within the chosen breast most cancers danger genes have been recognized in 9,641 women.

BRCA1/2 accounted for 59.1 % of the PVs, and a few 38.eight % have been in ATM, CHEK2 or PALB2.

Only 24.7 % of all women with PVs present in any gene reached the higher than 20 % lifetime danger threshold (utilizing the Claus mannequin).

“This study showed that genetic testing for multiple genes found more women at an increased risk for breast cancer than testing only for BRCA1 and BRCA2 or from relying only on family history analysis,” the authors write of their conclusions.

“If genetic testing finds mutations in any of the breast cancer risk genes,” they add, “women can consider undergoing breast MRI or advanced digital mammography for improved detection of breast cancer, as well as other steps to reduce the risk for breast cancer.”

JACR has posted the research on-line in full for free.


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