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Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
Nat Genet. 1997 Sep; 17(1):79-83.NGen

Abstract

Approximately 130,000 cases of colorectal cancer (CRC) are diagnosed in the United States each year, and about 15% of these have a hereditary component. Two well-defined syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), account for up to 5% of the total new cases of CRC. Truncating APC mutations are responsible for FAP, and defective mismatch repair genes cause HNPCC. However, the genes responsible for most of the familial cases are unknown. Here we report a mutation (T to A at APC nucleotide 3920) found in 6% of Ashkenazi Jews and about 28% of Ashkenazim with a family history of CRC. Rather than altering the function of the encoded protein, this mutation creates a small hypermutable region of the gene, indirectly causing cancer predisposition.

Authors+Show Affiliations

Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

9288102

Citation

Laken, S J., et al. "Familial Colorectal Cancer in Ashkenazim Due to a Hypermutable Tract in APC." Nature Genetics, vol. 17, no. 1, 1997, pp. 79-83.
Laken SJ, Petersen GM, Gruber SB, et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet. 1997;17(1):79-83.
Laken, S. J., Petersen, G. M., Gruber, S. B., Oddoux, C., Ostrer, H., Giardiello, F. M., Hamilton, S. R., Hampel, H., Markowitz, A., Klimstra, D., Jhanwar, S., Winawer, S., Offit, K., Luce, M. C., Kinzler, K. W., & Vogelstein, B. (1997). Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genetics, 17(1), 79-83.
Laken SJ, et al. Familial Colorectal Cancer in Ashkenazim Due to a Hypermutable Tract in APC. Nat Genet. 1997;17(1):79-83. PubMed PMID: 9288102.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. AU - Laken,S J, AU - Petersen,G M, AU - Gruber,S B, AU - Oddoux,C, AU - Ostrer,H, AU - Giardiello,F M, AU - Hamilton,S R, AU - Hampel,H, AU - Markowitz,A, AU - Klimstra,D, AU - Jhanwar,S, AU - Winawer,S, AU - Offit,K, AU - Luce,M C, AU - Kinzler,K W, AU - Vogelstein,B, PY - 1997/9/1/pubmed PY - 1997/9/1/medline PY - 1997/9/1/entrez SP - 79 EP - 83 JF - Nature genetics JO - Nat. Genet. VL - 17 IS - 1 N2 - Approximately 130,000 cases of colorectal cancer (CRC) are diagnosed in the United States each year, and about 15% of these have a hereditary component. Two well-defined syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), account for up to 5% of the total new cases of CRC. Truncating APC mutations are responsible for FAP, and defective mismatch repair genes cause HNPCC. However, the genes responsible for most of the familial cases are unknown. Here we report a mutation (T to A at APC nucleotide 3920) found in 6% of Ashkenazi Jews and about 28% of Ashkenazim with a family history of CRC. Rather than altering the function of the encoded protein, this mutation creates a small hypermutable region of the gene, indirectly causing cancer predisposition. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/9288102/Familial_colorectal_cancer_in_Ashkenazim_due_to_a_hypermutable_tract_in_APC_ L2 - http://dx.doi.org/10.1038/ng0997-79 DB - PRIME DP - Unbound Medicine ER -