Table of contents

October 2012 - Volume 49 - 10

Cancer genetics

  • Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
    Pascaline Gaildrat, Sophie Krieger, Daniela Di Giacomo, Julie Abdat, Françoise Révillion, Sandrine Caputo, Dominique Vaur, Estelle Jamard, Elodie Bohers, Danielle Ledemeney, Jean-Philippe Peyrat, Claude Houdayer, Etienne Rouleau, Rosette Lidereau, Thierry Frébourg, Agnès Hardouin, Mario Tosi, Alexandra Martins
  • Rare variants in XRCC2 as breast cancer susceptibility alleles
    Florentine S Hilbers, Juul T Wijnen, Nicoline Hoogerbrugge, Jan C Oosterwijk, Margriet J Collee, Paolo Peterlongo, Paolo Radice, Siranoush Manoukian, Irene Feroce, Fabio Capra, Fergus J Couch, Xianshu Wang, Lucia Guidugli, Kenneth Offit, Sohela Shah, Ian G Campbell, Ella R Thompson, Paul A James, Alison H Trainer, Javier Gracia, Javier Benitez, Christi J van Asperen, Peter Devilee

New loci

Developmental defects

Methods

Copy-number variation

  • De novo copy number variants are associated with congenital diaphragmatic hernia
    Lan Yu, Julia Wynn, Lijiang Ma, Saurav Guha, George B Mychaliska, Timothy M Crombleholme, Kenneth S Azarow, Foong Yen Lim, Dai H Chung, Douglas Potoka, Brad W Warner, Brian Bucher, Charles A LeDuc, Katherine Costa, Charles Stolar, Gudrun Aspelund, Marc S Arkovitz, Wendy K Chung
  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Elizabeth Aylward, Mandy Barker, Raphael Bernier, Sonia Bouquillon, Philippe Conus, Bruno Delobel, W Andrew Faucett, Robin P Goin-Kochel, Ellen Grant, Louise Harewood, Jill V Hunter, Sébastien Lebon, David H Ledbetter, Christa Lese Martin, Katrin Männik, Danielle Martinet, Pratik Mukherjee, Melissa B Ramocki, Sarah J Spence, Kyle J Steinman, Jennifer Tjernagel, John E Spiro, Alexandre Reymond, Jacques S Beckmann, Wendy K Chung, Sébastien Jacquemont, on behalf of the Simons VIP Consortium, on behalf of the 16p11.2 European Consortium