| | |  | | | | Record from Web of Science® | | | | | | |
| The APC 11307K allele and cancer risk in a community-based study of Ashkenazi Jews |
|
|
| Author(s): Woodage T, King SM, Wacholder S, Hartge P, Struewing JP, McAdams M, Laken SJ, Tucker MA, Brody LC |
| Source: NATURE GENETICS Volume: 20 Issue: 1 Pages: 62-65 Published: SEP 1998 |
| Times Cited: 107 References: 20 |
| Abstract: Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and, without surgical intervention, the development of colorectal cancer(1) (CRC). APC is a tumour-suppressor gene, and somatic Loss occurs in tumours. The germline T-to-A transversion responsible for the APC I1307K allele converts the wild-type sequence to a homopolymer tract (A,) that is genetically unstable and prone to somatic mutation. The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref. 2). To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey. Risk of developing colorectal, breast and other cancers were compared between genotyped I1307K carriers and non-carriers and their first-degree relatives. |
| Document Type: Article |
| Language: English |
| Reprint Address: Brody, LC (reprint author), Natl Human Genome Res Inst, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA |
Addresses:
1. Natl Human Genome Res Inst, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA
2. NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA
3. Informat Management Serv Inc, Silver Spring, MD 20904 USA
4. Johns Hopkins Oncol Ctr, Baltimore, MD 21231 USA |
| Publisher: NATURE AMERICA INC, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 115NK |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |