title: Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.
abstract: BACKGROUND
  Cyclin-dependent kinase inhibitor 2A (CDKN2A) is the major high-risk susceptibility gene for melanoma.
  
  
  OBJECTIVE
  We sought to evaluate the effect of CDKN2A mutations in Spanish patients with a high risk of developing melanoma and the association with clinical and family history features.
  
  
  METHODS
  A cross-sectional study design was used to analyze the CDKN2A impact in 702 Spanish patients with a high risk of developing melanoma.
  
  
  RESULTS
  The CDKN2A mutation prevalence was 8.5% in patients with sporadic multiple primary melanoma and 14.1% in familial melanoma. Number of cases in the family, number of primary melanomas, and age of onset were associated with the presence of CDKN2A mutation. Having a CDKN2A mutation in the family increased the prevalence of other cancers (prevalence ratio [PR] 2.99, P=.012) and prevalence of pancreatic (PR 2.97, P=.006), lung (PR 3.04, P<.001), and breast (PR 2.19, P=.018) cancers but not nephrourologic or colon cancer.
  
  
  CONCLUSIONS
  Smoking status was not assessed in the individuals with lung cancer.
  
  
  CONCLUSIONS
  Melanoma-prone families with mutations in CDKN2A have an increased prevalence of a broad spectrum of cancers including lung, pancreatic, and breast cancer. This information should be included in genetic counseling and cancer prevention programs for CDKN2A mutation carriers.
authors: Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Dermatology Department, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
authors: Miriam
authors: M
authors: Potrony
authors: Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Biochemical and Molecular Genetics Service, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
authors: Joan Anton
authors: JA
authors: Puig-Butillé
authors: Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Dermatology Department, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
authors: Paula
authors: P
authors: Aguilera
authors: Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Biochemical and Molecular Genetics Service, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
authors: Celia
authors: C
authors: Badenas
authors: Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Dermatology Department, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
authors: Cristina
authors: C
authors: Carrera
authors: Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Dermatology Department, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
authors: Josep
authors: J
authors: Malvehy
authors: Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Dermatology Department, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. Electronic address: susipuig@gmail.com.
authors: Susana
authors: S
authors: Puig
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics; D003430:Cross-Sectional Studies; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008175:Lung Neoplasms / Q000453:epidemiology* / Q000235:genetics; D008545:Melanoma / Q000453:epidemiology* / Q000235:genetics; D008875:Middle Aged; D010190:Pancreatic Neoplasms / Q000453:epidemiology* / Q000235:genetics; D015995:Prevalence; D012307:Risk Factors; D012878:Skin Neoplasms / Q000453:epidemiology* / Q000235:genetics; D013030:Spain / Q000453:epidemiology
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16
keywords: CDKN2A; breast cancer; genetic counseling; lung cancer; melanoma; pancreatic cancer; prevention; risk; smoking