Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals

Wiley - Tập 50 Số 3 - Trang 282-290 - 1994
Susan Shanley1, John W. Ratcliffe, Athel Hockey, Eric Haan, Christine Oley, David Adams, Nicholas G. Martin, Carol Wicking, Georgia Chenevix‐Trench
1Queensland Institute of Medical Research, Brisbane, Australia

Tóm tắt

AbstractOne hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study. In aiming to ascertain all the affected families in Australia, we have examined the largest series to date. Relative frequencies of associated complications are presented and compared with those of the recent English survey by Evans et al. [J Med Genet 30:460–464, 1993]. The frequencies of most manifestations are similar. However, one major difference is that the multiple basal cell carcinomas are manifest from an earlier age in the Australian population, which probably reflects greater exposure to ultraviolet radiation. Of the 64 families ascertained, 37 represented simplex cases, and, accordingly, the apparent new mutation rate is surprisingly high (14–81%) given the lack of impact of NBCCS on reproductive capabilities. There is some evidence to suggest that this may be attributable to anticipation. © 1994 Wiley‐Liss, Inc.

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Tài liệu tham khảo

Chenevix‐Trench G, 1993, Further localization of the gene for nevoid basal cell carcinoma syndrome in 15 Australasian families: Linkage and loss of heterozygosity, Am J Hum Genet, 53, 760

10.1038/bjc.1991.435

10.1136/jmg.30.6.460

10.1016/0140-6736(92)90868-4

Feingold M, 1974, Normal values for selected physical parameters: An aid to syndrome delineation, 7

10.1016/0092-8674(92)90122-S

10.1056/NEJM196005052621803

10.1097/00005792-198703000-00002

Hall JG, 1990, Genomic imprinting: Review and relevance to human diseases, Am J Hum Genet, 46, 857

Howell JB, 1959, Basal cell naevus: Its relationships to multiple cutaneous cancers and associated anomalies of development, Arch Dermatol Syph (Berlin), 28, 162

The Huntington's Disease Collaborative Research Group, 1993, A novel gene containing a trinucleotide repeat that is expanded and unstable on huntington's disease chromosomes, Cell, 72, 1

Jarisch W, 1894, Zur Lehre von den Hautgeschwulsten, Arch Dermatol Syph (Berlin), 28, 1162

10.1073/pnas.68.4.820

10.1002/ajmg.1320430509

10.1289/ehp.814093

10.1016/0140-6736(92)90903-G

10.1016/0092-8674(92)90302-S

10.1002/1097-0142(19800915)46:6<1456::AID-CNCR2820460627>3.0.CO;2-L

White JC, 1894, Multiple benign cystic epitheliomas, J Cutan Genitourin Dis, 12, 477

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Wiley

Tập 50 Số 3

282-290

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