SMARCA4 Pathogenic Variants: Gynecological Cancer Histories from a Laboratory Tested Cohort

From Primary Care to Oncology: Digital Risk Tools in Practice

Finding New Hope: Magnificent Minds and the Future of Autism Care
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SMARCA4 Pathogenic Variants: Gynecological Cancer Histories from a Laboratory Tested Cohort
  • Adela Rodríguez-Hernández, MD
  • December 17, 2025

As a research fellow in the Cancer Genetics and Prevention group at Dana-Farber Cancer Institute—trained as a medical oncologist in Spain and specializing in hereditary cancer and translational genomics—I am often asked how to counsel patients who carry rare pathogenic variants, particularly when evidence is limited or outdated. Few scenarios …

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From Primary Care to Oncology: Digital Risk Tools in Practice

  • December 10, 2025
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The Gene Scene: MEN1

  • December 9, 2025
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The Gene Scene: FOLR1

  • December 2, 2025
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The Gene Scene: GLA

  • November 25, 2025
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The Power of Progress: Philip's NF1 Clinical Trial Experience
  • Meagan Farmer
  • May 22, 2024

We had the opportunity to connect with Renie and Philip Moss ahead of Neurofibromatosis Awareness Month. Philip has neurofibromatosis type 1 (NF1). It is associated with many features but most often causes growths called neurofibromas (usually benign) as well as characteristic skin and eye findings.1 Malignant or cancerous tumors are rare.1 You …

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Navigating NF1: The Moss Family’s Story of Resilience and Hope

  • May 16, 2024
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Transforming Fear into Action and Advocacy: Our Family’s Lynch Syndrome Story

  • March 22, 2024
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Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen

  • November 14, 2023
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Passing on a Legacy of Health: Ben Huebsch Shares His BRCA Story for Men’s Health Week

  • June 14, 2023

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