Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020
Breast cancer risk: Elevated at 40-60% – Recommend annual mammogram and breast MRI starting at around age 30.
Ovarian tumor risk (typically benign sex cord/Sertoli cell tumors): Elevated at 18-21% – Recommend annual pelvic exam starting at age 18-20.
Cervical cancer risk (typically cervical adenoma malignum): Elevated at 10% – Recommend annual pelvic exam and Pap smear starting at age 18-20.
Uterus cancer risk: Elevated at 9% – Recommend annual pelvic exam starting at age 18-20.
Men & Women:
Colorectal cancer risk: Elevated at 39% – Recommend colonoscopy every 2-3 years starting in late teens.
Small intestine cancer risk: Elevated at 13% – Recommend small bowel visualization through CT or MRI enterography or video capsule endoscopy every 2-3 years starting at age 8-10.
Stomach cancer risk: Elevated 29% – Recommend upper endoscopy every 2-3 years starting in late teens.
Pancreatic cancer risk: Elevated 11-36% – Recommend MRI/MRCP or endoscopic ultrasound every 1-2 years starting at age 30-35.
Lung cancer risk: Elevated at 7%-17% – If smoker, recommend smoking cessation.
Testicular cancer risk (typically sex cord/Sertoli cell tumors): Elevated at 9% – Recommend annual testicular exam starting at age 10.
Inheritance: Autosomal dominant; thus, parents, full siblings, and children have a 50% risk for the mutation.
Family Testing: At-risk family members should consider genetic counseling and testing, including minors.
Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known mutation. PGD is a procedure available for certain mutations to screen the embryo prior to pregnancy.
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