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• W2940852236 abstract "Neurofibromatosis type 1 (NF1) is a cancer predisposing syndrome. Studies suggest that women < 50 years old (y.o.) with NF1 have an increased breast cancer (BC) incidence and BC associated mortality. However, this has not been widely recognized secondary to small study populations.A systematic literature review was conducted through database searches for BC and NF1: 3456 articles identified, 166 reviewed, 58 used for descriptive analysis and 4 utilized for meta-analysis. Fisher's exact tests, Kaplan-Meier curves and random-effects meta-analysis models were used for analysis.Two hundred eighty-six cases of NF1 and female BC were identified with a median age of 46 years at diagnosis; 53% were < 50. Peak age of BC diagnosis was between 34 to 44 years. Women < 50 y.o. presented with more advanced disease vs. those ≥50 (56% vs. 22% stage III-IV, respectively; p = 0.005). Median survival for the entire cohort was 5 years vs. the reported median BC survival of over 20 years in the general population using the SEER database. Median age at BC death was 48.5 years; 64% of deceased patients were < 50. Meta-analysis of a total of 4178 women with NF1 revealed a BC standardized incidence ratio (SIR) of 3.07 (95%CI 2.16-4.38) for women with NF1 vs. the general population. Women < 50 y.o. demonstrated a higher SIR of 5.08 (95%CI 3.77-6.81) compared to 1.92 (95%CI 1.40-2.63) if ≥50 y.o.This systematic literature review and meta-analysis suggests that women with NF1 < 50 y.o. have a five-fold increased risk of BC, present with more advanced disease, and may have an increased BC related mortality. Increased awareness and implementation of recent National Comprehensive Cancer Network early BC screening guidelines for this high-risk patient population is essential. Additional evaluation on the influence of NF1 gene mutations identified in patients undergoing hereditary cancer genetic testing on breast cancer risk in individuals without clinical evidence of NF1 is needed." @default.
• W2940852236 created "2019-05-03" @default.
• W2940852236 creator A5026972135 @default.
• W2940852236 creator A5038034815 @default.
• W2940852236 creator A5048499133 @default.
• W2940852236 creator A5060897770 @default.
• W2940852236 creator A5061388555 @default.
• W2940852236 creator A5083248405 @default.
• W2940852236 date "2019-03-25" @default.
• W2940852236 modified "2023-10-18" @default.
• W2940852236 title "Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature" @default.
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