Mutant BRCA1 alleles transmission: different approaches and different biases.
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.
de la Hoya
Miguel
M
Molecular Oncology Laboratory, Hospital Clínico San Carlos, Madrid, Spain.
Meijers-Heijboer
Hanne
H
Fernández
Juan Manuel
JM
Díez
Orland
O
Osorio
Ana
A
Alonso
Carmen
C
van Leeuwen
Inge
I
Díaz-Rubio
Eduardo
E
Cornelisse
Cees
C
Benítez
Javier
J
Devilee
Peter
P
Caldés
Trinidad
T
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