CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein

International Journal of Cancer

Volumn 73, Issue 4, 1997, Pages 531-536

  Sun, Sophie ^a   Pollock, Pamela M ^b   Liu, Ling ^c   Karimi, Sepideh ^a   Jothy, Serge ^d   Milner, Benedict J ^e   Renwick, Andrew ^f   Lassam, Norman J ^c,g   Hayward, Nicholas K ^b   Hogg, David ^c   Narod, Steven A ^h   Foulkes, William D ^a  

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c UNIVERSITY OF TORONTO   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF ABERDEEN   (United Kingdom)

^f BEATSON INSTITUTE FOR CANCER RESEARCH   (United Kingdom)

^g DEPARTMENT OF RADIATION ONCOLOGY   (Canada)

^h WOMEN S COLLEGE HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BLADDER CANCER; CANCER DIAGNOSIS; CANCER RISK; CHROMOSOME ANALYSIS; DNA DETERMINATION; FAMILIAL CANCER; FEMALE; GENE ISOLATION; GENE MUTATION; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOMA; MISSENSE MUTATION; MOUTH CANCER; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ADOLESCENT; ADULT; AGED; CYCLIN-DEPENDENT KINASE INHIBITOR P16; FEMALE; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HUMANS; MALE; MELANOMA; MIDDLE AGED; NEOPLASMS, MULTIPLE PRIMARY; PEDIGREE; SYNDROME;

EID: 17744405579     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0215(19971114)73:4<531::AID-IJC13>3.0.CO;2-C     Document Type: Article

References (22)

1. BERGMAN, W., WATSON, P., DE JUNG, J., LYNCH, H.T. and FUSARO, R.M., Systemic cancer and the FAMMM syndrome. Brit. J. Cancer, 61, 932-936 (1990).
2. CANNON-ALBRIGHT, L.A. and 15 OTHERS, Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science, 258, 1148-1152 (1992).
3. CIOTTI, P., STRIGINI, P. and BIANCHISCARRA, G., Familial melanoma and pancreatic cancer. N. Engl. J. Med., 334, 469-470 (1996).
4. CLARK, W.H., REIMER, R.R., GREENE, M., AINSWORTH, A.M. and MASTRANGELO, M.J., Origin of familial malignant melanoma from heritable melanocytic lesions: the B-K mole syndrome. Arch. Dermatol., 114, 732 (1978).
5. FOULKES, W.D., FLANDERS, T.Y., POLLOCK, P.M. and HAYWARD, N.K., The CDKN2A (P16) gene and human cancer. Mol. Medicine, 3, 5-20 (1997).
6. GOLDSTEIN, A.M., FRASER, M.C., STRUEWING, J.P., HUSSUSSIAN, C.J., RANADE, K., ZAMETKIN, D.P., FONTAINE, L.S., ORGANIC, S.M., DRACOPOLI, N.C., CLARK, W.H., JR. and TUCKER, M.A., Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N. Engl. J. Med., 333, 970-974 (1995).
7. HUSSUSSIAN, C.J., STRUEWING, J.P. GOLDSTEIN, A.M., HIGGINS, P.A., ALLY, D.S., SHEAHAN, M.D., CLARK, W.H., JR., TUCKER, M.A. and DRACOPOLI, N.C., Germline p16 mutations in familial melanoma. Nature (Genet.), 8, 15-21 (1994).
8. JEN, J., HARPER, J.W., BIGNER, S.H., BIGNER, D.D., PAPADOPOULOS, N., MARKOWITZ, S., WILLSON, J.K., KINZLER, K.W. and VOGELSTEIN, B., Deletion of p16 and p15 genes in brain tumors. Cancer Res., 54, 6353-6358 (1994).
9. KAMB, A., GRUIS, N.A., WEAVER-FELDHAUS, J., LIU, Q., HARSHMAN, K., TAVTIGIAN, S.V., STOCKERT, E., DAY, R.S., 3RD, JOHNSON, B.E. and SKOLNICK, M.H., A cell cycle regulator potentially involved in genesis of many tumor types. Science, 264, 436-440 (1994).
10. LYNCH, H.T., FUSARO, R.M., PESTER, J., OOSTERHUIS, J.A., WENT, L.N., RUMKE, P., NEERING, H. and LYNCH, J.F., Tumour spectrum in the FAMMM syndrome. Brit. J. Cancer, 44, 553-560 (1981).
11. MERLO, A., HERMAN, J.G., MAO, L., LEE, D.J., GABRIELSON, E., BURGER, P.C., BAYLIN, S.B. and SIDRANSKY, D., 5′ CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/ CDKN2/MTS1 in human cancers. Nature (Med.), 1, 686-692 (1995).
12. PARRY, D. and PETERS, G., Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. Mol. cell. Biol., 16, 3844-3852 (1996).
13. RANADE, K., HUSSUSSIAN, C.J., SIKORSKI, R.S., VARMUS, H.E., GOLDSTEIN, A.M., TINKER, M.A., SERRANO, M., HANNON, G.J., BEACH, D. and DRACOPOLI, N.C., Mutations associated with familial melanoma impair p16INK4 function. Nature (Genet.), 10, 114-116 (1995).
14. SERRANO, M., HANNON, G.J. and BEACH, D., A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature (Lond.), 366, 704-707 (1993).
15. STRYER, L., Biochemistry (3rd ed.), W.H. Freeman, New York (1988).
16. TUCKER, M.A., FRASER, M.C., GOLDSTEIN, A.M., ELDER, D.E., GUERRY, D. 4TH and ORGANIC, S.M., Risk of melanoma and other cancers in melanomaprone families. J. Invest. Dermatol., 100, 350S-355S (1993).
17. VOJTEK, A.B., HOLLENBERG, S.M. and COOPER, J.A., Mammalian Ras interacts directly with serine-threonine kinase Raf. Cell. 74, 205-214 (1993).
18. WALKER, G.J., HUSSUSSIAN, C.J., FLORE, J.F., GLENDENING, J.M., HALUSKA, F.G., DRACOPOLI, N.C., HAYWARD, N.K. and FOUNTAIN, J.W., Mutations of the CDKN2/p16(INK4) gene in Australian melanoma kindreds. Hum. mol. Genet., 4, 1845-1852 (1995).
19. WHELAN, A.J., BARTSCH, D. and GOODFELLOW, P.J., Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. N. Engl. J. Med., 333, 975-977 (1995).
20. WRIGHT, F.A. and THOMAS, R.G., Familial melanoma and pancreatic cancer. N. Engl. J. Med., 334, 470-471 (1996).
21. YANG, R., SERRANO, M., SLATER, J., LEUNG, K. and KOEFFLER, H.P., Analysis of p16(INK4A) and its interaction with CDK4. Biochem. biophys. Res. Comm., 218, 254-259 (1996).
22. YARBROUGH, W.G., APRELIKOVA, O., PEI, H., OLSHAN, A.F. and LIU, E.T., Familial tumor syndrome associated with a germline nonfunctional p16INK4a allele. J. nat. Cancer Inst., 88, 1489-1491 (1996).