Gene: 𝘼𝙏𝙈
Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021)
𝗪𝗼𝗺𝗲𝗻:
Breast cancer risk: Elevated at 30% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs starting at age 40.
Ovarian cancer risk: Possibly increased, not well established – Manage based on family history.
𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻:
Pancreatic cancer risk: Elevated – Consider MRI/MRCP or endoscopic ultrasound for 𝘈𝘛𝘔 carriers with a family history of pancreatic cancer in a close relative.
Inheritance: Autosomal dominant; thus, parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have an 𝘈𝘛𝘔 mutation, the child is at risk for autosomal recessive Ataxia Telangiectasia, which affects the nervous system, immune system, and other body systems.
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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