Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

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(1). Here, using pooled next-generation sequencing of 507 g...

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Main Authors: 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, Pour, Naser Ansari, 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759028/
https://ncbi.nlm.nih.gov/pubmed/23242139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature11725
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