title: Mutant BRCA1 alleles transmission: different approaches and different biases.
abstract: Recently, a non-random transmission of BRCA1 mutant alleles to the off-spring of carriers has been suggested. If confirmed by further studies, the finding will have important implications both for risk assessment and the understanding of BRCA1 biology. However, these kind of analysis are not easy to perform due to several ascertainment biases inherent to the identification of BRCA1 carriers. In this report we propose different approaches to overcome such biases and we present additional data supporting a non-random transmission of BRCA1 mutant alleles.
authors.affiliation: Molecular Oncology Laboratory, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: de la Hoya
authors.forename: Hanne
authors.initials: H
authors.lastname: Meijers-Heijboer
authors.forename: Juan Manuel
authors.initials: JM
authors.lastname: Fernández
authors.forename: Orland
authors.initials: O
authors.lastname: Díez
authors.forename: Ana
authors.initials: A
authors.lastname: Osorio
authors.forename: Carmen
authors.initials: C
authors.lastname: Alonso
authors.forename: Inge
authors.initials: I
authors.lastname: van Leeuwen
authors.forename: Eduardo
authors.initials: E
authors.lastname: Díaz-Rubio
authors.forename: Cees
authors.initials: C
authors.lastname: Cornelisse
authors.forename: Javier
authors.initials: J
authors.lastname: Benítez
authors.forename: Peter
authors.initials: P
authors.lastname: Devilee
authors.forename: Trinidad
authors.initials: T
authors.lastname: Caldés
mesh_terms: D000367:Age Factors; D015982:Bias; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D019398:Genes, BRCA1; D006579:Heterozygote; D006801:Humans; D009154:Mutation