This piece is part of a series of stories on the breakthroughs reshaping breast cancer screening and prevention to personalize care, detect cancer earlier, and save lives. Read the rest of the stories here. When Margaret Mack spit in a tube and sent it off for genetic testing last September, she didn’t think twice about it.
The 38-year-old child therapist had only decided to participate in a breast cancer screening trial because of the “woefully understudied state of women’s health,” she says. Filling out a questionnaire and shipping her saliva was a “low-lift way to be virtuous.” Mack had no family history of breast cancer. What she did have were lumpy breasts, or breasts prone to benign tissue changes that can occur in up to half of women.
Over the past few years, she’d found herself in a cycle of telling her primary care doctor or gynecologist about a lump, then getting imaging and learning it was nothing. This is just dense tissue. Come back when you’re 40.’ ” So when she received her genetic test results, she was shocked to learn that she had a PALB2 variant.
Nicknamed BRCA3, PALB2 imparts a lifetime breast cancer risk of a similarly daunting magnitude as the BRCA1 and BRCA2 mutations: up to 58 percent. The variant put Mack in the highest-risk designation for the clinical trial, known as WISDOM (Women Informed to Screen Depending on Measures of Risk). During the current phase of this ongoing study, which began in 2016, women ages 30 to 74 are put in a risk group—low, average, elevated, or high—based on a comprehensive evaluation that factors in genetics; health and demographic info such as age, race, and family history of breast cancer; and breast density scoring from a recent mammogram.
People in Mack’s risk group are advised to undergo screening every six months, alternating between a mammogram (the gold standard in breast cancer screening) and an MRI (a test that’s been shown to catch more early-stage tumors than a mammogram alone). Mack promptly booked an appointment with a high-risk clinic, where she received a mammogram, an ultrasound, and an MRI—and learned only from the final test that she, in fact, already had ductal carcinoma in situ (DCIS). This is considered a stage 0 form of breast cancer, though hers was high-grade, meaning the cells looked very abnormal and threatened to quickly spread into nearby tissue.
For several decades, shifting and often conflicting screening guidelines have made it difficult to know when and how often we should start getting mammograms. It’s even harder to be proactive, especially when you add the insurance coverage, or lack thereof, into it all. The consensus has largely settled on a single age-based approach: Wait until 40, then get a mammogram each year.
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