CoChat
Sign Up
Cited by 977

The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Germline p16 mutations in familial melanoma

Hussussian, Christopher J., Struewing, Jeffery P., Goldstein, Alisa M., Higgins, Paul A. T., Ally, Delphine S., Sheahan, Michelle D., Clark, Wallace H., Tucker, Margaret A., Dracopoli, Nicholas C.·1994·Nature Genetics
DOI 10.1038/ng0994-15
Open this paper in CoChat — free account

Abstract

The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds. Six of these mutations were identified in 33/36 melanoma cases in nine families, whereas two were detected in normal controls and are not disease-related. The melanoma-specific mutations were detected in 9p21-linked, but not in 1p36-linked, families, thereby confirming previous reports of genetic heterogeneity. Functional analyses of these mutations will confirm those causally related to the development of familial melanoma.

Overview

Integrity signals

Registry

Crossref · 10.1038/ng0994-15

Cites

2 of 2 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Mutations or loss of function in the Cdkn2a gene eventually leads to tumor formation.

    “Unfortunately, mutations or loss of function in the Cdkn2a gene eventually leads to tumor formation, making it not feasible to perform limiting dilution experiments in 1-year-old Cdk2na knockout mice and also making it less than ideal to target therapeutically (Hussussian et al., 1994).”

    From Inhibiting USP16 rescues stem cell aging and memory in an Alzheimer’s model (2022) · cites this paper as Hussussian et al., 1994

Citations

Cites

Flagged first, then by citations

Research works printed but not linked: 25

  1. Nobori, T., Miura, K., Wu, D.J., Lois, A., Takabayashi, K. & Carson, D.A. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368, 753–756 (1994). · DOI · Paper page
  2. Cairns, P. et al. Rates of p16 (MTS1) mutations in primary tumors with 9p loss. Science 265, 415–416 (1994). · DOI
  3. Cowan, J., Halaban, R. & Francke, U. Cytogenetic analysis of melanocytes from premalignant nevi and melanomas. J. natn. Cancer Inst. 80, 1159–1164 (1988). · DOI
  4. Fountain, J.W. et al. Homozygous deletions within human chromosome band 9p21 in melanoma. Proc. natn. Acad. Sci. U.S.A. 89, 10557–10561 (1992). · DOI
  5. Petty, E.M. et al. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumour suppressor gene(s). Am. J. hum. Genet. 53, 96–104 (1993).
  6. Cannon-Albright, L. et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13–p22. Science 258, 1148–1152 (1992). · DOI
  7. Goldstein, A.M. et al. Linkage of cutaneous malignant melanoma/dysplastic nevi to chromosome 9p, and evidence for genetic heterogeneity. Am. J. hum. Genet. 54, 489–496 (1994).
  8. Nancarrow, D.J. et al. Confirmation of chromosome 9p linkage in familial melanoma. Am. J. hum. Genet. 53, 936–942 (1993).
  9. Greene, M.H. & Fraumeni, J.F. The hereditary variant of malignant melanoma (Grune & Stratton, New York, 1979).
  10. Tucker, M.A. Individuals at high risk of melanoma. Pigment Cell Res. 9, 95–109 (1988).
  11. Tucker, M.A. et al. The risk of melanoma and other cancers in melanomaprone families. J. Invest. Dermatol. Suppl. 100, 350s–355s (1993). · DOI
  12. Kwiatkowski, D.J. & Diaz, M.O. Dinucleotide repeat polymorphism at the IFNA locus (9p22). Hum. molec. Genet. 1, 658 (1992). · DOI
  13. Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874–879 (1989). · DOI
  14. Ravnik-Glavac, M., Glavac, D. & Dean, M. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum. molec. Genet. 3, 801–807 (1994). · DOI
  15. Bale, S.J. et al. Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. New Engl. J. Med. 320, 1367–1372 (1989). · DOI
  16. Goldstein, A.M. et al. Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity. Am. J. hum. Genet. 52, 537–550 (1993).
  17. Clark, W.H. Jr., Elder, D.E. & Guerry, D. IV. Dysplastic nevi and malignant melanoma. In Pathology of the skin (eds Farmer, E. & Hood, A. ) 684–756 (Appleton and Lange, Norwalk, 1990).
  18. MacKie, R.M., Freudenberger, T. & Aitchison, T.C. Personal risk factor chart for cutaneous melanoma. Lancet 2, 487–490 (1989). · DOI
  19. Tucker, M.A. et al. Dysplastic nevi on the scalp of prepubertal children from melanoma-prone families. J. Pediatr. 103, 65–69 (1983). · DOI
  20. Fountain, J.W., Hudson, T.J., Engelstein, M., Housman, D.E. & Dracopoli, N.C. Dinucleotide repeat polymorphism at the D9S126 locus (9p22). Hum. molec. Genet. 2, 823 (1993). · DOI
  21. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Multilocus linkage analysis in humans:detection of linkage and estimation of recombination. Am. J. hum. Genet. 37, 482–488 (1985).
  22. Smith, C.A.B. Testing for heterogeneity of recombination fraction values in human genetics. Ann. hum. Genet. 27, 175–182 (1963). · DOI
  23. Ott, J. Analysis of human genetic linkage (The Johns Hopkins University Press, Baltimore, 1991).
  24. Ott, J. The HOMOG programs. (Columbia University, New York, 1992).
  25. Shuber, A.P., Skoletsky, J., Stern, R. & Handelin, B.L. Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis. Hum. molec. Genet. 2, 159–163 (1993). · DOI

Cited by

Sorted by citations

Metadata

Authors
Hussussian, C. J., Struewing, J. P., Goldstein, A. M., Higgins, P. A. T., Ally, D. S., Sheahan, M. D., Clark, W. H., Tucker, M. A., & Dracopoli, N. C.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
1994-09
Volume
8
Issue
1
Pages
15-21
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/ng0994-15
Cited by
977
References
2
Language
en
Licence
www.springer.com/tdm (tdm)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review