Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
You are viewing the latest version of this page, saved on April 8, 2016 at 1:25pm by Madeleine Ball.
Reported by numerous labs in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/5293/), causing MUTYH-associated polyposis (MAP) in a recessive manner. Affected individuals have a greatly increased lifetime risk of colorectal cancer. GET-Evidence predicts “Y152C” for this genomic variation, but ClinVar reports the variant as MUTYH Y179C. Carriers may also have some increased risk for colorectal cancer.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-Prolla
P. Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in
patients diagnosed with colorectal cancer in Southern Brazil. Int J Colorectal
Dis. 2011 Jul;26(7):841-6. doi: 10.1007/s00384-011-1172-1. Epub 2011 Mar 22.
PubMed PMID: 21424714.
Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J. MUTYH hotspot
mutations in unselected colonoscopy patients. Colorectal Dis. 2012
May;14(5):e238-44. doi: 10.1111/j.1463-1318.2012.02920.x. PubMed PMID: 22469480.
Added in this revision:
Rosner G, Bercovich D, Daniel YE, Strul H, Fliss-Isakov N, Ben-Yehoiada M,
Santo E, Halpern Z, Kariv R. Increased risk for colorectal adenomas and cancer in
mono-allelic MUTYH mutation carriers: results from a cohort of North-African
Jews. Fam Cancer. 2015 Sep;14(3):427-36. doi: 10.1007/s10689-015-9799-7. PubMed