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. 1993 Oct;34(10):1389–1393. doi: 10.1136/gut.34.10.1389

Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.

D G Evans 1, S P Guy 1, N Thakker 1, J G Armstrong 1, C Dodd 1, D R Davies 1, C Babbs 1, T Clancy 1, T Warnes 1, P Sloan 1, et al.
PMCID: PMC1374547  PMID: 8244107

Abstract

One case of non-penetrance of the familial adenomatous polyposis (FAP) gene at 59 years of age and late onset of polyps on endoscopy and biopsy in this and two other families is described. Screening protocols should include dental screening as well as indirect ophthalmoscopy and endoscopy to detect minimal manifestations of the gene. In the absence of a specific DNA predictive test, bowel screening should continue well beyond 30 years of age.

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Selected References

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  1. Burkitt D. P. Related disease--related cause? Lancet. 1969 Dec 6;2(7632):1229–1231. doi: 10.1016/s0140-6736(69)90757-0. [DOI] [PubMed] [Google Scholar]
  2. Burn J., Chapman P., Delhanty J., Wood C., Lalloo F., Cachon-Gonzalez M. B., Tsioupra K., Church W., Rhodes M., Gunn A. The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet. 1991 May;28(5):289–296. doi: 10.1136/jmg.28.5.289. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Groden J., Thliveris A., Samowitz W., Carlson M., Gelbert L., Albertsen H., Joslyn G., Stevens J., Spirio L., Robertson M. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991 Aug 9;66(3):589–600. doi: 10.1016/0092-8674(81)90021-0. [DOI] [PubMed] [Google Scholar]
  4. Jagelman D. G. Clinical management of familial adenomatous polyposis. Cancer Surv. 1989;8(1):159–167. [PubMed] [Google Scholar]
  5. Joslyn G., Carlson M., Thliveris A., Albertsen H., Gelbert L., Samowitz W., Groden J., Stevens J., Spirio L., Robertson M. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell. 1991 Aug 9;66(3):601–613. doi: 10.1016/0092-8674(81)90022-2. [DOI] [PubMed] [Google Scholar]
  6. Kinzler K. W., Nilbert M. C., Su L. K., Vogelstein B., Bryan T. M., Levy D. B., Smith K. J., Preisinger A. C., Hedge P., McKechnie D. Identification of FAP locus genes from chromosome 5q21. Science. 1991 Aug 9;253(5020):661–665. doi: 10.1126/science.1651562. [DOI] [PubMed] [Google Scholar]
  7. Koorey D. J., McCaughan G. W., Trent R. J., Gallagher N. D. Risk estimation in familial adenomatous polyposis using DNA probes linked to the familial adenomatous polyposis gene. Gut. 1992 Apr;33(4):530–534. doi: 10.1136/gut.33.4.530. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Leppert M., Burt R., Hughes J. P., Samowitz W., Nakamura Y., Woodward S., Gardner E., Lalouel J. M., White R. Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med. 1990 Mar 29;322(13):904–908. doi: 10.1056/NEJM199003293221306. [DOI] [PubMed] [Google Scholar]
  9. MacDonald F., Morton D. G., Rindl P. M., Haydon J., Cullen R., Gibson J., Neoptolemos J. P., Keighley M. R., McKeown C. M., Hultén M. Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study. BMJ. 1992 Apr 4;304(6831):869–872. doi: 10.1136/bmj.304.6831.869. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Miyoshi Y., Ando H., Nagase H., Nishisho I., Horii A., Miki Y., Mori T., Utsunomiya J., Baba S., Petersen G. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4452–4456. doi: 10.1073/pnas.89.10.4452. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Murday V., Slack J. Inherited disorders associated with colorectal cancer. Cancer Surv. 1989;8(1):139–157. [PubMed] [Google Scholar]
  12. Nelson R. L., Orsay C. P., Pearl R. K., Abcarian H. The protean manifestations of familial polyposis coli. Dis Colon Rectum. 1988 Sep;31(9):699–703. doi: 10.1007/BF02552588. [DOI] [PubMed] [Google Scholar]
  13. Nishisho I., Nakamura Y., Miyoshi Y., Miki Y., Ando H., Horii A., Koyama K., Utsunomiya J., Baba S., Hedge P. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991 Aug 9;253(5020):665–669. doi: 10.1126/science.1651563. [DOI] [PubMed] [Google Scholar]
  14. Pierce E. R. Some genetic aspects of familial multiple polyposis of the colon in a kindred of 1,422 members. Dis Colon Rectum. 1968 Sep-Oct;11(5):321–329. doi: 10.1007/BF02616985. [DOI] [PubMed] [Google Scholar]
  15. Spirio L., Joslyn G., Nelson L., Leppert M., White R. A CA repeat 30-70 KB downstream from the adenomatous polyposis coli (APC) gene. Nucleic Acids Res. 1991 Nov 25;19(22):6348–6348. doi: 10.1093/nar/19.22.6348. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Vasen H. F., Griffioen G., Offerhaus G. J., Den Hartog Jager F. C., Van Leeuwen-Cornelisse I. S., Meera Khan P., Lamers C. B., Van Slooten E. A. The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands. Dis Colon Rectum. 1990 Mar;33(3):227–230. doi: 10.1007/BF02134185. [DOI] [PubMed] [Google Scholar]

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