Published in
Elsevier, Cancer Genetics and Cytogenetics, 1(181), p. 52-54
DOI: 10.1016/j.cancergencyto.2007.11.001
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- [www.ncbi.nlm.nih.gov] | PDF
- [www.researchgate.net]
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
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A Family With Two Consecutive Nonsense Mutations in Bmpr1a Causing Juvenile Polyposis
Journal article published in 2008 by
James R. Howe 
,
Sathivel Chinnathambi,
Daniel Calva,
Jennifer Bair,
Brenda Pechman,
Ágnes Salamon,
Beatrix Tam,
László Simon
,
Sathivel Chinnathambi,
Daniel Calva,
Jennifer Bair,
Brenda Pechman,
Ágnes Salamon,
Beatrix Tam,
László Simon
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Abstract
We describe a novel germline mutation in BMPR1A in a family with Juvenile Polyposis and colon cancer. This mutation is that of two consecutive substitutions (735-6 TG>AT) which cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. This mutation caused protein truncation, and represents a unique case of consecutive nonsense mutations in human disease.