title: Breast cancer and neurofibromatosis type 1: a diagnostic challenge in patients with a high number of neurofibromas.
abstract: BACKGROUND
  Neurofibromatosis 1 is one of the most common genetic diseases in humans, presenting with multiple neurofibromas and an increased risk of various benign and malignant tumors, including breast cancer.
  
  
  METHODS
  In this paper we report a case of a woman with neurofibromatosis 1 and the challenge associated with detecting an advanced breast cancer because of numerous skin neurofibromas, which were responsible for a substantial delay in cancer diagnosis. Literature concerning the association of neurofibromatosis 1 and breast cancer is reviewed and discussed.
  
  
  CONCLUSIONS
  Best practice guidelines for breast cancer detection are not sufficient for the screening of neurofibromatosis 1 carriers. A more intensive clinical and imaging approach should be used if the same early detection rate as in non-neurofibromatosis 1 women is to be achieved.
authors.affiliation: Breast Surgery Service, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. andre@saudedamama.org.|Postgraduate Program in Pathology, School of Medicine, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. andre@saudedamama.org.
authors.forename: André Vallejo
authors.initials: AV
authors.lastname: Da Silva
authors.affiliation: Pathology Service, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. resendefr@yahoo.com.br.|Postgraduate Program in Pathology, School of Medicine, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. resendefr@yahoo.com.br.
authors.forename: Fabiana Resende
authors.initials: FR
authors.lastname: Rodrigues
authors.affiliation: Pathology Service, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. monicapalmeida@hotmail.com.
authors.forename: Mônica
authors.initials: M
authors.lastname: Pureza
authors.affiliation: Pathology Service, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. vasilami@uol.com.br.|Postgraduate Program in Pathology, School of Medicine, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. vasilami@uol.com.br.
authors.forename: Vania Gloria Silami
authors.initials: VG
authors.lastname: Lopes
authors.affiliation: Postgraduate Program in Pathology, School of Medicine, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil. karingcunha@gmail.com.
authors.forename: Karin Soares
authors.initials: KS
authors.lastname: Cunha
mesh_terms: D001943:Breast Neoplasms / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology* / Q000601:surgery; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D008408:Mastectomy; D008875:Middle Aged; D017253:Neurofibromatoses / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology*; D012306:Risk; D012867:Skin / Q000473:pathology