Literature DB >> 8516755

Familial malignant melanoma of the uvea and p53: a Victorian detective story.

M Jay1, A C McCartney.   

Abstract

In 1905, Parsons first described a family with a history of four generations with uveal melanoma associated with breast cancer. The family history has now been brought up to date using genealogical sources to determine the origin of this family which was traced to the East End of London in the early 19th century. In addition, immunohistochemical investigations have showed mutant p53, a tumor suppressor gene, in museum specimens of uveal melanoma after 150 years. This family probably represents the earliest example of the Li-Fraumeni syndrome on record.

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Year:  1993        PMID: 8516755     DOI: 10.1016/0039-6257(93)90142-t

Source DB:  PubMed          Journal:  Surv Ophthalmol        ISSN: 0039-6257            Impact factor:   6.048


  10 in total

Review 1.  Risk factors for intraocular melanoma and occupational exposure.

Authors:  J M Lutz; I A Cree; A J Foss
Journal:  Br J Ophthalmol       Date:  1999-10       Impact factor: 4.638

2.  Cell growth and p53 expression in primary acquired melanosis and conjunctival melanoma.

Authors:  S Seregard
Journal:  J Clin Pathol       Date:  1996-04       Impact factor: 3.411

3.  Ophthalmic genetics: a genealogical guide to sources in England and Wales.

Authors:  M Jay
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

4.  Suppression of thrombospondin-1 expression during uveal melanoma progression and its potential therapeutic utility.

Authors:  Shoujian Wang; Aneesh Neekhra; Daniel M Albert; Christine M Sorenson; Nader Sheibani
Journal:  Arch Ophthalmol       Date:  2012-03

5.  Germline BAP1 alterations in familial uveal melanoma.

Authors:  Karan Rai; Robert Pilarski; Getachew Boru; Muneeb Rehman; Ahmad H Saqr; James B Massengill; Arun Singh; Meghan J Marino; Frederick H Davidorf; Colleen M Cebulla; Mohamed H Abdel-Rahman
Journal:  Genes Chromosomes Cancer       Date:  2016-10-26       Impact factor: 5.006

Review 6.  Molecular pathology of uveal melanoma.

Authors:  S E Coupland; S L Lake; M Zeschnigk; B E Damato
Journal:  Eye (Lond)       Date:  2012-12-07       Impact factor: 3.775

Review 7.  Disparities in Uveal Melanoma: Patient Characteristics.

Authors:  Erin E Nichols; Ann Richmond; Anthony B Daniels
Journal:  Semin Ophthalmol       Date:  2016-04-29       Impact factor: 1.975

Review 8.  Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.

Authors:  Dawn C Allain
Journal:  J Mol Diagn       Date:  2008-08-07       Impact factor: 5.568

Review 9.  Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing.

Authors:  Natasha M van Poppelen; Daniël P de Bruyn; Tolga Bicer; Rob Verdijk; Nicole Naus; Hanneke Mensink; Dion Paridaens; Annelies de Klein; Erwin Brosens; Emine Kiliҫ
Journal:  Int J Mol Sci       Date:  2020-12-30       Impact factor: 5.923

10.  Germline mutation in the TP53 gene in uveal melanoma.

Authors:  Nikola Hajkova; Jan Hojny; Kristyna Nemejcova; Pavel Dundr; Jan Ulrych; Katerina Jirsova; Johana Glezgova; Ivana Ticha
Journal:  Sci Rep       Date:  2018-05-16       Impact factor: 4.379

  10 in total

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