Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

@article{Li2016PointMI,
  title={Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.},
  author={Jun Li and Susan L Woods and Sue Healey and Jonathan Beesley and Xiaoqing Chen and Jason S. M. Lee and Haran Sivakumaran and Nicci Wayte and K{\'a}tia Nones and Joshua J Waterfall and John V. Pearson and Anne-Marie Patch and Janine Senz and Manuel A. R. Ferreira and Pardeep Kaur Kaurah and Robertson Mackenzie and Alireza Heravi-Moussavi and Samantha Hansford and Tamsin R. M. Lannagan and Amanda B Spurdle and Peter T. Simpson and Leonard M Da Silva and Sunil R Lakhani and Andrew D Clouston and Mark Bettington and Florian Grimpen and Rita A Busuttil and Natasha S Di Costanzo and Alex Boussioutas and Marie Jeanjean and George C. Chong and Aur{\'e}lie J. Fabre and Sylviane Olschwang and Geoffrey J. Faulkner and Evangelos Bellos and Lachlan J M Coin and Kevin P. Rioux and Oliver F Bathe and Xiaogang Wen and Hilary C Martin and Deborah W Neklason and Sean R. Davis and Robert Lee Walker and Kathleen A Calzone and Itzhak Avital and Theo Heller and Christopher K. H. Koh and M. A Mondragon Pineda and Udo Rudloff and Martha A Quezado and Pavel N. Pichurin and Peter J. Hulick and Scott M. Weissman and Anna C. Newlin and Wendy S. Rubinstein and Jone E. Sampson and Kelly Jo Hamman and David E. Goldgar and Nicola K Poplawski and Kerry D. Phillips and Louise Schofield and Jacqueline Armstrong and Cathy Kiraly-Borri and Graeme K Suthers and David G. Huntsman and William D Foulkes and F{\'a}tima Carneiro and Noralane Morey Lindor and Stacey L. Edwards and Juliet D. French and Nicola Waddell and Paul S. Meltzer and Daniel L Worthley and Kasmintan A Schrader and Georgia Chenevix-Trench},
  journal={American journal of human genetics},
  year={2016},
  volume={98 5},
  pages={
          830-842
        }
}
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease… CONTINUE READING
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