Gene: 𝘾𝙃𝙀𝙆2
Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 & Breast/Ovarian/Pancreatic Version 1.2021:
𝗪𝗼𝗺𝗲𝗻:
Breast Cancer Risk: Elevated at 28-44% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs with contrast starting at age 40.
𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻:
Colorectal Cancer Risk: Elevated – Recommend colonoscopy every 5 years starting at age 40 or 10 years prior to the relative’s diagnosis for individuals with a first-degree relative with colorectal cancer.
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.
Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf and https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf