Tumoral predisposition

Articles

• Saethre-Chotzen syndrome
  15 June 2007

  The Saethre-Chotzen syndrome is an autosomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 (MIM.601622).
  Synopsis
  tumoral predisposition
  breast cancer predisposition (#17437280#)
  Etiology
  Saethre-Chotzen syndrome (SCS) is caused by mutation in the TWIST1 gene (MIM.601622).
  A phenotype of SCS has been described with a mutation in the FGFR2 gene (MIM.176943).
  Twist-1 may act as a key regulator of metastasis (...)

• SMARCB1-associated familial schwannomatosis
  29 April 2007

  INI1-associated familial schwannomatosis

• neurofibromatosis type 2
  28 October 2003

  NF2

• familial neuroblastoma
  4 June 2004

  Neuroblastoma (NB), a childhood malignancy affecting neural crest deriving cell lineages, is characterized by great clinical variability and histological heterogeneity.
  As NB usually occurs as sporadic form, molecular studies were mainly carried out on tumor samples and derived cell lines, leading to the identification of several somatic alterations.
  Although familial NB is rare, linkage data obtained from different families have provided evidence of linkage to markers mapping to (...)

• pleuropulmonary blastoma and cystic nephroma association
  21 March 2007

  PPBCN association

• infantile myofibromatosis
  9 February 2006

  Definition: Infantile myofibromatosisis is defined by the presence of multiple infantile myofibromas. Infantile myofibromatosis is a term coined by Chung and Enzinger.
  It exclusively affects infants and young children, with 60% of cases noted at birth or shortly thereafter and more than 80% occurring before the age of 2 years.
  Infantile myofibromatosis is one of the most commonly occurring tumors of the neonatal period, presenting in both solitary and multicentric forms.
  Most solitary (...)

• palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
  31 March 2007

  References
  Parma, P.; Radi, O.; Vidal, V.; Chaboissier, M. C.; Dellambra, E.; Valentini, S.; Guerra, L.; Schedl, A.; Camerino, G. : R-spondin 1 is essential in sex determination, skin differentiation and malignancy. Nature Genet. 38: 1304-1309, 2006. PubMed ID : #17041600#
  Radi, O.; Parma, P.; Imbeaud, S.; Nasca, M. R.; Uccellatore, F.; Maraschio, P.; Tiepolo, L.; Micali, G.; Camerino, G. : XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic (...)