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Cancer Genetic Research Genetics in Disease Stem Cell Research

Pinpointing Risks Of Triple Negative Breast Cancer

6 months, 2 weeks ago

3355  0
Posted on Aug 08, 2018, 10 p.m.

The Mayo Clinic Has discovered 4 gene alterations associated with increased risk of triple negative breast cancer, as published in the Journal of the National Cancer Institute.

Having the ability to identify women with the inherited mutation in gene BRCA1 linked to this subtype of the disease who face highest risks for triple negative breast cancer may save lives. Researchers from the Mayo Clinic have discovered four additional gene alterations associated with an elevated risk of triple negative breast cancer, a discovery which may pave the way to expanded genetic testing and improved prevention strategies.


Of the subtypes triple negative breast cancer is the hardest to treat as it doesn’t overexpress HER2 and lacks progesterone as well as estrogen receptors making it tough to tackle with targeted treatments; and accounts for 15% of breast cancer diagnosis in Caucasian patients and 35% in African Americans.


Genes from upwards of 10,000 triple negative breast cancer patients participating in 2 studies were tested. Mutations were uncovered in BRCA1, BARD1, RAD51D, and PALB2 as well as finding alterations in BRCA1. Mutations in BRIP1 and RAD51C were found to be linked to more moderate risk of triple negative breast cancer. Researchers suggest expanding gene panels to test for elevated risk of triple negative breast cancer may be valuable strategy as this subtype is associated with high risk of recurrence and poor 5 year survival rate.


Women at high risk of inherited breast cancer are advised to start screening at an early age as well as periodic breast MRIs and options of reducing risk by undergoing further testing with prophylactic mastectomies.


Researchers having been working towards improving cancer screening and studying triple negative breast cancer trying to identify the forces that make it so aggressive. Researchers in Cleveland have found a survival pathway in cancer stem cells along with connexin 26 proteins that is believed to facilitates communication between cell driving tumor growth, inhibiting may be a new strategy for fighting triple negative breast cancer.


PARP inhibitors such as Lynparza approved for BRCA mutated breast cancer are hoped to improve outcomes for patients with this aggressive subtype.Thus far results have been mixed with data showing Lynparza improved progression free survival by 42%, and two other studies with veliparib falling short.


Difficulties inherent to treating triple negative breast cancer call for the expanded genomic treatment to identify persons facing elevated risk of developing the disease at an earlier stage, researchers say their findings provide basis for better risk management.

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