Etiology and Pathogenesis > Hereditary Tumor Syndromes


Li-Fraumeni syndrome


Moore SK, Zambrano N, Lynch HT, Lipkin M, Kopelovich L
Absence of germline mutations in exons 5-9 of the p53 gene in patients with Li-Fraumeni-like (SBLA) and familial adenomatous polyposis heritable cancer syndromes
Cancer Genet Cytogenet 1996 Sep;90(2):125-9


Muller H, Mosimann S, Gebhardt M, Scott R, Spycher M, Weber W
Tumor diseases in families of 600 breast cancer patients with special reference to familial adenocarcinomatosis and the Li-Fraumeni-/SBLA syndrome
Helv Chir Acta 1992 May;59(1):239-45


Piotr Rieske, Magdalena Zakrzewska, Wojciech Biernat, Jacek Bartkowiak, Arthur Zimmermann and Paweł Piotr Liberski
Atypical molecular background of glioblastoma and meningioma developed in a patient with Li–Fraumeni syndrome
Journal of Neuro-Oncology, 71(1): 27-30, January 2005. (Abstract+)

R. Siddiqui, L. Robles Diaz, K. Nafa, N. Kauff, F. Facio, H. Huang, K. Onel, M. Robson, N. Ellis, K. Offit
TP53 and CHEK2 *1100delC gene mutation in North American families suggestive Li-Fraumeni syndrome: Memorial Sloan-Kettering experience
40th ASCO Annual Meeting. New Orleans, LA. June 5-8, 2004. Abstract No.9537

Simon, Matthias M.D.; Ludwig, Michael Ph.D.; Fimmers, Rolf Ph.D.; Mahlberg, Ralph; Muller-Erkwoh, Angelika M.D.; Koster, Gertraud Ph.D.; Schramm, Johannes M.D.
Variant Of The Chek2 Gene As A Prognostic Marker In Glioblastoma Multiforme. Clinicopathological Study
Neurosurgery. 2006 Sep 28; [Epub ahead of print]
Abstract

Tomizawa Y, Adachi J, Kohno T, Yamaguchi N, Saito R, Yokota J
Identification and characterization of families with aggregation of lung cancer
Jpn J Clin Oncol. 1998 Mar;28(3):192-5
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Neurofibromatosis


M. Livia Bajenaru, M. Rosario Hernandez, Arie Perry, Yuan Zhu, Luis F. Parada, Joel R. Garbow and David H. Gutmann
Optic Nerve Glioma in Mice Requires Astrocyte Nf1 Gene Inactivation and Nf1 Brain Heterozygosity
Cancer Research 63, 8573-8577, December 15, 2003

Felix Distelmaier, Raimund Fahsold, Guido Reifenberger, Martina Messing-Juenger, Jörg Schaper, Dominik T. Schneider, Ulrich Göbel, Ertan Mayatepek and Thorsten Rosenbaum
Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up
Childs Nerv Syst. 2006 Aug 29; [Epub ahead of print]
Abstract

Kaufmann D, Leistner W, Kruse P, Kenner O, Hoffmeyer S, Hein C, Vogel W, Messiaen L, Bartelt B
Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2
Cancer Res 2002 Mar 1;62(5):1503-9 


Kley N, Whaley J, Seizinger BR
Neurofibromatosis type 2 and von Hippel-Lindau disease: from gene cloning to function
Glia 1995 Nov;15(3):297-307


Korf BR
Neurocutaneous syndromes: neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis
Curr Opin Neurol. 1997 Apr;10(2):131-6

Lee TC, Sung ML, Chen JS
Tuberous sclerosis associated with neurofibromatosis: report of a case
J Formos Med Assoc 1994 Sep;93(9):797-801

Mautner VF, Schroder S, Pulst SM, Ostertag H, Kluwe L
Neurofibromatosis versus schwannomatosis
Fortschr Neurol Psychiatr. 1998 Jun;66(6):271-7 

Rodriguez FJ, Perry A, Gutmann DH, O'Neill BP, Leonard J, Bryant S, Giannini C.
Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients
J Neuropathol Exp Neurol. 2008 Mar;67(3):240-9
 Abstract |
DBLinks | BL 7:7

Ruggieri M
The different forms of neurofibromatosis
Childs Nerv Syst 1999 Jul;15(6-7):295-308

Ruggieri M, Huson SM
The neurofibromatoses. An overview
Ital J Neurol Sci 1999 Apr;20(2):89-108 

Pou Serradell A
Natural evolution of neurocutaneous syndrome in adults
Rev Neurol. 1996 Sep;24(133):1085-127

Stemmer-Rachamimov AO, Horgan MA, Taratuto AL, Munoz DG, Smith TW, Frosch MP, Louis DN
Meningioangiomatosis is associated with neurofibromatosis 2 but not with somatic alterations of the NF2 gene
J Neuropathol Exp Neurol. 1997 May;56(5):485-9

Kenji Tada, Masato Kochi, Hideyuki Saya, Jun-Ichi Kuratsu, Shoji Shiraishi, Takanori Kamiryo, Naoki Shinojima, Yukitaka Ushio
Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1
Neuro-Oncology, Volume 5, Number 4, Pages 228 -- 234 - October 2003 

Watkins D, Ruttledge MH, Sarrazin J, Rangaratnam S, Poisson M, Delattre JY, Rouleau GA
Loss of heterozygosity on chromosome 22 in human gliomas does not inactivate the neurofibromatosis type 2 gene
Cancer Genet Cytogenet. 1996 Nov;92(1):73-8

Zwarthoff EC
Neurofibromatosis and associated tumour suppressor genes
Pathol Res Pract 1996 Jul;192(7):647-57



Turcot's syndrome


Kikuchi T, Rempel SA, Rutz HP, de Tribolet N, Mulligan L, Cavenee WK, Jothy S, Leduy L, Van Meir EG
Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene
Cancer Res 1993 Mar 1;53(5):957-61

Koot RW, Hulsebos TJ, van Overbeeke JJ
Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes
Surg Neurol. 1996 Mar;45(3):213-8 



Von Hippel-Lindau disease


J. Spaulding, R. Brekken, L. Robinson, K. Koeneman, B. Mickey, J. Cadeddu, C. Croft, A. Sagalowsky, N. Ahmad, G. E. Tomlinson
Serum markers of angiogenesis in patients with von Hippel-Lindau Disease
40th ASCO Annual Meeting. New Orleans, LA. June 5-8, 2004. Abstract No.1033

W. K. Rathmell, C. Chmielecki, T. Van Dyke, M. C. Simon
Models of Von Hippel-Lindau tumor suppressor disease specific activity
40th ASCO Annual Meeting. New Orleans, LA. June 5-8, 2004. Abstract No.9553


Surveys


Birch JM
Familial cancer syndromes and clusters
Br Med Bull 1994 Jul;50(3):624-39

Choyke PL, Glenn GM, Walther MM, Zbar B, Linehan WM
Hereditary renal cancers
Radiology. 2003 Jan;226(1):33-46 

Hauck RM, Manders EK
Familial syndromes with skin tumor markers
Ann Plast Surg 1994 Jul;33(1):102-11   

Kimmelman A, Liang BC
Familial neurogenic tumor syndromes
Hematol Oncol Clin North Am 2001 Dec;15(6):1073-84 

Louis DN, von Deimling A
Hereditary tumor syndromes of the nervous system: overview and rare syndromes
Brain Pathol 1995 Apr;5(2):145-51

Muller H, Scott RJ
Tumor suppressor gen mutation in the germ line: its significance in familial and sporadic tumors
Schweiz Med Wochenschr 1995 Jul 29;125(30):1445-54

Ohno K
The results of recent research in neurocutaneous syndromes
No To Hattatsu. 1998 Mar;30(2):109-14
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