- Women's Health & Genetics - Weekly Brief
- Posts
- The WHG Weekly Brief: Issue 3
The WHG Weekly Brief: Issue 3
Stay informed. Stay ahead. Weekly clinical insights.

🌟 Editor's Note
Hello! At my previous startup, we partnered with an OB/GYN practice known for its exceptional documentation of family history. Our tool analyzed the family history records of every woman seen in the office. What we uncovered was eye-opening: 1 in 4 patients met criteria for further genetic screening. These weren’t high-risk oncology patients. These were everyday women coming in for annual exams — many of whom had risk factors hidden in plain sight. This experience reshaped how I view prevention in women’s health: Better data leads to earlier detection — and earlier detection saves lives. In this issue, we focus on breast cancer screening — from updates in clinical guidance to new research in risk prediction. Whether you’re a provider, policymaker, or patient advocate, this brief is designed to keep you sharp, informed, and one step ahead. — Anita Prasad |
🔬Clinical Insight of the Week:
📌 New Recommendation:
All women should begin biennial mammograms at age 40, continuing through age 74.
→ Grade B: Clear evidence of moderate benefit in reducing breast cancer mortality.
🔍 Where Evidence Is Still Lacking
The Task Force is calling for urgent research in these key areas:
Health equity: Better screening and treatment strategies for Black, Hispanic, Asian, Pacific Islander, Native American, and Alaska Native women
Dense breasts: Nearly half of women have dense breast tissue, but there’s still insufficient evidence to recommend supplemental screening (MRI/ultrasound)
Age 75+: More data needed to determine if screening beyond 74 is beneficial
⚠️ Key Takeaway for Equity:
Black women are 40% more likely to die from breast cancer and are often diagnosed with more aggressive cancers at younger ages. Starting screening at age 40 is a step forward — but it's not enough. The USPSTF highlights a critical need for better follow-up care and treatment access to close this mortality gap.
In Kennedy v. Braidwood Management (2025), the U.S. Supreme Court upheld the constitutionality of the U.S. Preventive Services Task Force (USPSTF), preserving the Affordable Care Act’s requirement for insurers to cover preventive services with no cost-sharing. The ruling confirms that USPSTF members are “inferior officers” who can be appointed by the HHS Secretary, meaning their recommendations remain enforceable. This decision protects no-cost access to services rated “A” or “B” by the Task Force — including cancer screenings, PrEP, and key immunizations.
For clinicians, this ensures continued insurance coverage for preventive services you routinely recommend, including those tied to hereditary cancer risk. The Court also emphasized that the HHS Secretary retains oversight, reinforcing the link between federal guidance and clinical implementation. While legal challenges may continue, this ruling maintains the current preventive care framework — a win for both patients and providers.
🧠 What’s new in research?
June 2025
A recent review of lifestyle guidelines for breast cancer care highlights key evidence and equity gaps:
🍎 National and international guidelines emphasize diet, exercise, and weight management for reducing recurrence and improving outcomes
📊 Evidence from both observational studies and randomized trials supports lifestyle interventions across diagnosis, treatment, and survivorship
👩🏽⚕️ Black women face unique disparities in breast cancer outcomes and access to guideline-based care
🧭 Application of lifestyle recommendations is often inconsistent across populations, limiting their impact in high-risk groups
🗣️ Culturally tailored strategies are essential to improving survivorship and narrowing outcome gaps in underserved communities
🔍 Takeaway: While lifestyle counseling is a proven tool in breast cancer care, its success depends on equitable implementation. Clinicians should deliver consistent, culturally sensitive guidance—especially for populations facing higher mortality risk.
June 2025
A multi-institutional study examined germline mutations in Indian patients with triple-negative breast cancer (TNBC):
👩🏽⚕️ 192 TNBC patients underwent multigene panel testing with both pre- and post-test genetic counseling
🧬 Pathogenic germline mutations were found in 28.6% of patients; BRCA1 accounted for 72.4% of these, and BRCA2 for 13.8%
🧪 10 novel mutations were identified in BRCA1, BRCA2, and PALB2, not seen in global databases like TCGA or gnomAD
🔍 8 pathogenic mutations were also found in non-BRCA DNA damage response genes, highlighting the need to better understand their clinical relevance
📈 A higher rate of variants of uncertain significance (VUS) was observed in non-BRCA genes compared to BRCA1/2
🔍 Takeaway: BRCA1/2 mutations dominate the germline landscape in Indian TNBC patients, but novel and non-BRCA variants are emerging. Functional validation and population-specific studies are critical to inform personalized cancer risk and treatment strategies in India.
🧬 Genes of the week: RAD51C & RAD51D
Ovarian Cancer + Moderate Breast Cancer Risk RAD51C / RAD51D are tumor suppressor genes involved in the homologous recombination repair of DNA double-strand breaks. Inherited mutations in either gene are associated with an elevated risk of hereditary ovarian cancer, particularly high-grade serous carcinoma, and a moderate risk of breast cancer. RAD51C and RAD51D–related cancers are often triple-negative when breast cancer occurs, and ovarian cancer typically presents without a strong family history. Because of their role in DNA repair, these genes may also have therapeutic implications, especially with PARP inhibitor sensitivity in affected individuals. Both genes are now routinely included in multigene hereditary cancer panels, and pathogenic variants meet NCCN criteria for enhanced surveillance and consideration of risk-reducing salpingo-oophorectomy. Absolute risk: Ovarian cancer: ~10–15% lifetime risk Breast cancer: ~20–25% lifetime risk (moderate risk range) |
Till next time,
The WHG Team