ATRIP Gene Variants Could Increase Breast Cancer Susceptibility


In the past, there have been specific genetic mutations associated with breast cancer: most often the BRCA1 and BRCA2 genes. Altogether, there are 15 genes associated with a moderate-to-high risk of developing breast cancer. But recent research suggests that ATRIP gene variants may also increase susceptibility. Medical XPress reports on a study published in the American Journal of Human Genetics that made this discovery after trying to understand why some women had such an extensive history of this cancer without known associated mutations.

Altogether, the research team evaluated data from 510 women, as well as 308 matched controls. The women underwent whole-exome sequencing. Once the research team identified which genes had loss-of-function variants, they began performing further analyses; through this, the research team identified 9 potential genes that could be related. 

3 of the participants who were diagnosed with cancer had these ATRIP gene mutations, compared to zero women within the control group. Given a former study that found ATRIP mutations in 1 in every 2,293 women, the fact that 3 women in this group had these variants felt like a significant discovery. Using another data set, ATRIP mutations were discovered in a decent subset of women with this cancer; although this data set did note these mutations in people living without breast cancer, it was a much smaller population size. 

Ultimately, more research is needed to better explore ATRIP mutations and the potential link to cancer development. However, the research team feels confident that this discovery could help them improve diagnostic and treatment processes down the road. 

A Brief Overview of Breast Cancer

Breast cancer, which forms in breast tissue, can affect both males and females; it is the second most common cancer in females. As described above, some cases of breast cancer have been linked to heredity. Other risk factors include older age, a history of breast cancer or related conditions, radiation, early menstruation or late menopause, having a child at an older age, never being pregnant, alcohol consumption, and hormone therapy. Symptoms include breast tissue lumps; inverted nipples; breast skin peeling, crusting, flaking, pitting, dimpling, or redness; or changes in the breast’s size, shape, or overall appearance. 

The diagnostic process includes breast exams and mammograms, biopsies, ultrasounds, and MRIs. Additional testing is required to determine what stage the cancer is in. Treatment varies but may include surgical interventions, hormone therapy, immunotherapy, chemotherapy, targeted therapy, and radiation. Speaking with your care team can help you to determine the best treatment option.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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