UMass Boston Scientist Seeks New Clues to Hereditary Breast Cancer

Anna Fisher-Pinkert | February 24, 2017
Shailja Pathania

Shailja Pathania
Image by: Harry Brett

Shailja Pathania, assistant professor of cancer biology at UMass Boston, has received a Department of Defense Breast Cancer Breakthrough award worth $375,000 over three years. Pathania will study the BRCA1 and BRCA2 gene mutations that are linked with high incidence of aggressive hereditary breast and ovarian cancer.

Today, women who learn they carry either mutation are left with two frightening choices: have a preventative mastectomy and/or an oophorectomy, or take the risk that they will develop an aggressive form of cancer. By age 70, the chance that women with the mutation will develop breast cancer grows to 85 percent. Pathania wants to change those odds.

“We don’t know how or when the supposedly ‘normal’ cells in people with the BRCA1 or BRCA2 mutation become tumor cells,” Pathania said. “We need this research to create better prevention strategies.”

Pathania, who recently completed postdoctoral studies at the Dana-Farber Cancer Institute, wants to give women with BRCA1 mutations more accurate predictions of how cancer could develop. Using the advanced genetic testing technology in the Center for Personalized Cancer Therapy at UMass Boston, she will examine the tissue from women who have had preventative mastectomies, looking for clues in pre-cancerous cells that may signal the likelihood of cancer in the future.

There may be a series of factors that increase or decrease the chances that a woman with the BRCA1 mutation will develop cancer, including environmental factors. Because BRCA1 and BRCA2 genes are involved in DNA repair, it’s possible that exposure to agents that hasten DNA damage could increase a woman’s chances of developing tumor cells. If Pathania can identify those factors and help discover the early determinants of breast cancer initiation and risk, her discoveries could lead to more individualized, more accurate preventative care for women who test positive for these mutations.

Pathania will conduct her research in collaboration with the Broad Institute of MIT and Harvard, and the Dana-Farber Cancer Institute in Boston.

“I was drawn to this research because of our multifaceted approach, and because it will make a difference in people’s lives,” Pathania said.

Tags: biology , cancer , cpct , dna , dod , genetics , pathania , research

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