Acronym HNPCC5 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

The outcome of the present case suggests that this mutation was the primary cause of LS in the family. [cancerindex.org]

VAL-20; CHARACTERIZATION OF VARIANTS CRC HIS-976 AND ASP-1021; CHARACTERIZATION OF VARIANTS SER-25; VAL-326; VAL-396; VAL-492; CYS-503; ARG-522; ASN-610; CYS-850; ALA-878; TYR-1026; SER-1087 AND MET-1225; Disclaimer: Any medical or genetic information present [web.expasy.org]

• Hodgkin Lymphoma

  Breast carcinoma Colon cancer Ovarian neoplasm Hodgkin lymphoma Neoplasm of the pancreas Stomach cancer Ovarian carcinoma And another 2 symptoms. [mendelian.co]

• Familial Adenomatous Polyposis

  A well-orchestrated cancer family history is essential for its diagnosis since, unlike its familial adenomatous polyposis (FAP) hereditary cancer counterpart, HNPCC lacks distinguishing clinical stigmata of its cancer genetic risk. [cancerindex.org]

Staging workup revealed no evidence of metastatic disease. Because of the patient's family history, the specimen was further evaluated and found to have high microsatellite instability (MSI-H). [cancerindex.org]

• Polyps

  \n\nPeople with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps. [ncbi.nlm.nih.gov]

  This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. [uniprot.org]

  His sole offspring, a 25-year-old man, was negative for a pathogenic variant in MSH6 and had no polyps on colonoscopy. His siblings did demonstrate a pathogenic variant in MSH6 and are currently opting for annual surveillance colonoscopy. [cancerindex.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]

MSI tumors can now benefit from new treatments such as immunotherapy which underlines the importance of their diagnosis. [cancerindex.org]

PMID: 18612159Free PMC Article Prognosis Hatfield E, Green JS, Woods MO, Warden G, Parfrey PS Mol Genet Genomic Med 2018 Nov;6(6):1021-1030. Epub 2018 Oct 9 doi: 10.1002/mgg3.478. [ncbi.nlm.nih.gov]

Additionally, MSI-high (MSI-H) status is associated with a better prognosis in early-stage CRC and a lack of benefit from adjuvant treatment with 5-fluorouracil in stage II disease. [cancerindex.org]

Etiology Choi YH, Lakhal-Chaieb L, Kröl A, Yu B, Buchanan D, Ahnen D, Le Marchand L, Newcomb PA, Win AK, Jenkins M, Lindor NM, Briollais L J Natl Cancer Inst 2019 Jul 1;111(7):675-683. doi: 10.1093/jnci/djy159. [ncbi.nlm.nih.gov]

A search for chemoprevention agents, such as cyclo-oxygenase 2 inhibitors, as well as for putative environmental effects and how they may interact with the genetic component in CRC etiology should abet this entire cancer control process. [cancerindex.org]

For LS patients and gene mutation carriers, LS associated cancer can be detected early or even prevented by monitoring and preventive surgery. Reproductive techniques can be used to prevent this disease from being passed down to the next generation. [cancerindex.org]

Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway. [uniprot.org]