Influence of paternal age on the incidence of Neurofibromatosis type 1: a systematic review of observational studies on risk factors

• Grant number: 17/19778-2
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: December 01, 2017
• End date: November 30, 2018
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Débora Gusmão Melo
• Grantee: Rodrigo Alexandre Cerqueira da Silva
• Host Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common genetic pathologies, affecting 1 / 4,000 to 1 / 2,500. Survey published in 2013 estimates an existence of about 80 thousand patients with NF1 in Brazil and approximately 1.5 million in the world. The disease is caused by heterozygous mutations in the tumor suppressor gene NF1, located in 17q11.2. It has, therefore, autosomal dominant inheritance and about 50% of the cases are originated by de novo mutation. There is evidence to suggest that paternal age may be associated with an increased risk of offspring with NF1. This systematic review of observational studies on risk factors aims to answer the following question: what is the incidence of NF1 in the offspring of men with advanced paternal age relative to the father considered young? To do this, a search will be made on five databases from descriptors chosen by the "Medical Subject Headings", selecting primary studies published between January 1997 and December 2017. The selected studies will be analyzed, synthesized and discussed. Ultimately, we want to gather information that supports proper genetic counseling for men of advanced reproductive age. (AU)