Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021:
Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; consider risk-reducing mastectomy.
𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻:
Colorectal cancer risk: Elevated – Recommend colonoscopy every 2-5 years starting at age 25 or 5 years before the earliest colon cancer in the family.
Gastric cancer risk: Elevated – Recommend upper endoscopy every 2-5 years starting at age 25 or 5 years before the earliest gastric cancer in the family.
Sarcoma risk: Elevated at 5%-22% – Recommend annual whole-body MRI.
Brain cancer risk: Elevated at 6%-19% – Recommend annual brain MRI (may be performed as part of the annual whole-body MRI).
Skin cancer risk: Elevated – Recommend annual dermatologic exams starting at age 18.
Other: Recommend comprehensive physical exam, including neurologic exam with high index of suspicion for rare cancers and second malignancies in cancer survivors every 6-12 months; Therapeutic radiation therapy should be avoided or minimized without sacrificing accuracy.
Inheritance: Autosomal dominant; thus, parents, full siblings, and children have a 50% risk for the gene mutation.
Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend delaying genetic testing on minors until they are at least 18 years old.
Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.
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