Cancer screening

New breast cancer gene analysis aims to boost precision medicine

Photo of a breast cancer survivor at a Komen walk surrounded by family members in pink
A breast cancer survivor and her family at a 2016 Komen Race for the Cure. Photo: Mindy Schauer/Digital First Media/Orange County Register via Getty Images

In an effort to clear up uncertain breast cancer diagnoses involving mutations of a key gene, known as BRCA1, a team of scientists have used gene editing technology to create and analyze thousands of variations to help determine which are benign or not, per a new study published in Nature on Wednesday.

Why it matters: There's been a lot of research on BRCA1 gene mutations, which are associated with breast and ovarian cancers, but the threat posed by each variant is not always known. This leads to confusion for patients regarding if they should take serious prophylactic measures such as a double mastectomy and/or removal of ovaries to prevent cancer, as actress Angelina Jolie did when she found she had the mutation.

Expert Voices

HPV vaccination rates show progress, but off track for 2020 goal

Pediatrician Richard K. Ohnmacht prepares a shot of the HPV vaccine Gardasil for a patient at his office in Cranston, Rhode Island, Sept. 3, 2015.
A pediatrician prepares a shot of the HPV vaccine Gardasil for a patient. Photo: Keith Bedford/The Boston Globe via Getty Images

In 2006, a safe and effective human papillomavirus (HPV) vaccine became available to protect against cancers caused by HPV infection. HPV vaccination rates in adolescent boys and girls are rising, though still not fast enough, with HPV-linked cancer cases soaring by nearly 45% between 1999 and 2015. Fewer than half of American adolescents have been fully vaccinated, far short of the 80% goal officials have set for 2020.

Why it matters: The lifetime risk of acquiring an HPV infection is approximately 80%. Each year, 14 million new cases are diagnosed in the U.S., and 79 million Americans are currently infected, putting them at increased risk of cervical cancer as well as throat, vaginal, penile and anal cancers. A more comprehensive campaign is needed to make the world free of HPV infections.

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