Article
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature - 17 Jan 2013
Ruark Elise, Snape Katie, Humburg Peter, Loveday Chey, Bajrami Ilirjana, Brough Rachel, Rodrigues Daniel Nava, Renwick Anthony, Seal Sheila, Ramsay Emma, Duarte Silvana Del Vecchio, Rivas Manuel A, Warren-Perry Margaret, Zachariou Anna, Campion-Flora Adriana, Hanks Sandra, Murray Anne, Ansari Pour Naser, Douglas Jenny, Gregory Lorna, Rimmer Andrew, Walker Neil M, Yang Tsun-Po, Adlard Julian W, Barwell Julian, Berg Jonathan, Brady Angela F, Brewer Carole, Brice Glen, Chapman Cyril, Cook Jackie, Davidson Rosemarie, Donaldson Alan, Douglas Fiona, Eccles Diana, Evans D Gareth, Greenhalgh Lynn, Henderson Alex, Izatt Louise, Kumar Ajith, Lalloo Fiona, Miedzybrodzka Zosia, Morrison Patrick J, Paterson Joan, Porteous Mary, Rogers Mark T, Shanley Susan, Walker Lisa, Gore Martin, Houlston Richard, Brown Matthew A, Caufield Mark J, Deloukas Panagiotis, McCarthy Mark I, Todd John A, Turnbull Clare, Reis-Filho Jorge S, Ashworth Alan, Antoniou Antonis C, Lord Christopher J, Donnelly Peter, Rahman Nazneen
Abstract excerpt
Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are considerable challenges with respect to study design, data analysis and replication. Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs)...
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