Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis in Hereditary Mixed Polyposis Syndrome

@article{Cheah2009GermlineBM,
  title={Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis in Hereditary Mixed Polyposis Syndrome},
  author={Peh Yean Cheah and Yu Hui Wong and Yuk Ping Chau and Carol Tien Tau Loi and Kiat Hon Tony Lim and Jit Fong Lim and Poh Koon Koh and Kong Weng Eu},
  journal={The American Journal of Gastroenterology},
  year={2009},
  volume={104},
  pages={3027-3033}
}
OBJECTIVES:Hereditary mixed polyposis syndrome (HMPS) is characterized by polyps of mixed adenomatous/hyperplastic/atypical juvenile histology that are autosomal dominantly inherited and that eventually lead to colorectal cancer (CRC). Although CRC with adenomatous polyps is initiated by inactivating adenomatous polyposis coli (APC), the initiating event of CRC with mixed polyps remains unclear. We aimed to identify the underlying germline defect in HMPS.METHODS:We screened for bone… CONTINUE READING

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If patients present with mixed morphology polyps in the large bowel that are autosomal dominantly inherited and corresponding absence of upper gastrointestinal abnormalities , the gene to begin mutation screening should be BMPR1A rather than APC .
If patients present with mixed morphology polyps in the large bowel that are autosomal dominantly inherited and corresponding absence of upper gastrointestinal abnormalities , the gene to begin mutation screening should be BMPR1A rather than APC .
Although CRC with adenomatous polyps is initiated by inactivating adenomatous polyposis coli ( APC ) , the initiating event of CRC with mixed polyps remains unclear .
Although CRC with adenomatous polyps is initiated by inactivating adenomatous polyposis coli ( APC ) , the initiating event of CRC with mixed polyps remains unclear .
Although CRC with adenomatous polyps is initiated by inactivating adenomatous polyposis coli ( APC ) , the initiating event of CRC with mixed polyps remains unclear .
Although CRC with adenomatous polyps is initiated by inactivating adenomatous polyposis coli ( APC ) , the initiating event of CRC with mixed polyps remains unclear .
We report further the first cases of Wilms ' tumor and papillary thyroid carcinoma associated with BMPR1A germline defect .
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