Global Variome shared LOVD

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Phenotype #0000087398 Individual ID 00111367 Associated disease - Phenotype details n=150 carriers of c.225_243del19 (p16-Leiden), Prospectively evaluated for a median of 43 months (median age 51 years), , Melanoma: RR 41.3 (95% CI 22.9-74.6), Pancreatic cancer: RR 80.8 (95% CI 44.7-146), Cancer of lip, mouth, pharynx: RR 18.8 (95% CI 6.05-58.2), Respiratory cancer (including larynx): RR 4.56 (95% CI 1.71-12.1), Carcinoid tumours: RR 119 (95% CI 29.7-475), , Any cancer except melanoma and pancreas: RR 4.31 (95% CI 2.91-6.37), , Sarcoidosis diagnosed in 6/150 individuals (4%); FAMMM Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Thomas Potjer Database submission license No license selected Created by Thomas Potjer Date created 2014-06-09 14:40:53 +02:00 (CEST) Date last edited 2017-08-03 16:21:53 +02:00 (CEST)

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