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BRCA in the Spotlight


The University of Pennsylvania is set to open the Basser Research Center in July, a new kind of cancer research center set to focus on a very limited set of cancer-causing mutations, reports The New York Times' Denise Grady. The center — which will be led by Penn's Susan Domchek — is being set up with a $25 million donation from financier and real estate investor John Gray and his wife Mindy, both of whom are Penn alumni. The couple chose to name the center after Mrs. Gray's sister, Faith Basser, who died of ovarian cancer. In honor of Basser, the center's researchers will focus their work on mutations in the BRCA1 and BRCA2 genes, the Times' Grady says.

Though the new center's research focus seems narrow, experts tell Grady that work done there could have a much larger impact. The University of Washington's Mary Claire King tells Grady that "this will open doors to understanding the biology of breast cancer that would not have been opened otherwise," and adds that she "cannot think of an area of breast cancer biology that would not be related to BRCA. These genes are involved in critical areas of DNA repair that are essential to breast cancer development."

The Grays tell Grady that they hope the center will also offer a place for people who have these mutations or a family history of these mutations a place to get advice and counseling. The Grays also want the researchers to have room and money to work without the need to constantly stop and apply for more grants.

"Their greatest hope is that the research will find better ways of preventing cancer, so that mutation carriers no longer face draconian choices like preventive surgery," Grady says. "Researchers [will] try to develop vaccines to prevent cancer and identify drugs that could safely be used to lower the risk in mutation carriers. The center will also try to find ways to detect ovarian cancer earlier, in hopes of saving women's lives."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.