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Genetic testing can find mutations in a gene called Neurofibromatosis type 1 (NF1), which is linked to increased risk for cancer.
People with a mutation in NF1 are at increased risk for tumors of the nervous system and rare tumors of the gastrointestinal system known as gastrointestinal stromal tumors (GIST). Women with NF1 mutations are also at increased risk for breast cancer before age 50.
National guidelines recommend that women with
NF1 mutations undergo increased screening for breast cancer beginning at age 30. Other options, including participating in detection and prevention research studies, may be available to manage risk.
Because NF1 can be associated with other types of tumors, people who test positive for a NF1 mutation should consult with a neurofibromatosis specialist.