PMID: 8592324Nov 1, 1995Paper

Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family

Journal of Medical Genetics
J R SampsonA D Mee

Abstract

Multifocal renal cell carcinomas (RCCs), together with angiomyolipomas (AMLs) and renal cysts, were identified in early adult life in two sisters with tuberous sclerosis (TSC). They were members of a multigenerational tuberous sclerosis family showing strong evidence for a mutant TSC causing gene on chromosome 9 (TSC1). Previous reports of multifocal RCC in young patients with TSC suggest that constitutional mutations at the TSC loci may predispose to RCC. In the rat a germline mutation affecting the TSC2 gene is associated with transmission of multifocal RCC as an autosomal dominant trait. However, the cases reported here are the first to suggest a similar role for the TSC1 gene in renal cell carcinogenesis.

References

May 1, 1979·AJR. American Journal of Roentgenology·O H GutierrezS Schwartz
Dec 1, 1992·The Journal of Urology·J I EverittC L Walker
Jan 1, 1991·Annals of the New York Academy of Sciences·J P OsborneD Webb
Nov 1, 1987·Investigative Radiology·J C LipmanS S Tumeh
Apr 1, 1971·Proceedings of the National Academy of Sciences of the United States of America·A G Knudson
Oct 1, 1994·Human Molecular Genetics·A J GreenJ R Yates
Nov 22, 1994·Proceedings of the National Academy of Sciences of the United States of America·R S YeungA G Knudson
Dec 31, 1993·Cell·UNKNOWN European Chromosome 16 Tuberous Sclerosis Consortium
Mar 1, 1993·Journal of Medical Genetics·M NellistJ R Sampson

❮ Previous
Next ❯

Citations

Mar 13, 1998·The Journal of Pathology·T J DorkinD E Neal
Mar 17, 2004·Annals of Diagnostic Pathology·Sun-Young JunJae Y Ro
Feb 5, 2002·Journal of Medical Genetics·M TakahashiB T Teh
Sep 24, 1999·The Journal of Clinical Investigation·H OndaD J Kwiatkowski
Jan 1, 2005·Hereditary Cancer in Clinical Practice·Aleksandra Tołoczko-GrabarekJan Lubiński
Jan 4, 2003·Radiology·Peter L ChoykeW Marston Linehan
Jun 23, 2009·Biochimica Et Biophysica Acta·Monique N StanfelBrian K Kennedy
Dec 19, 2003·The Urologic Clinics of North America·Jonathan J HwangMcClellan M Walther
Oct 3, 2003·Radiologic Clinics of North America·Peter L Choyke
Nov 30, 2014·Human Molecular Genetics·Magdalena E TyburczyDavid J Kwiatkowski
Mar 21, 2002·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Karen DuffyElizabeth Petri Henske
May 27, 2016·Nature Reviews. Disease Primers·Elizabeth P HenskeElizabeth A Thiele
Aug 6, 2014·The American Journal of Surgical Pathology·Juan GuoJesse K McKenney
Jan 6, 2005·Endocrine Reviews·Stephen J Marx, William F Simonds
Aug 3, 2004·Scandinavian Journal of Surgery : SJS : Official Organ for the Finnish Surgical Society and the Scandinavian Surgical Society·M KiuruK Aittomäki

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adenocarcinoma, Clear Cell

Clear Cell Adenocarcinoma is a tumor that arises in the female genital tract and is characterized by cells that appear clear under the microscope. Discover the latest research here.

Related Papers

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
I PeccatoriA Sessa
Archivos españoles de urología
Ana Romero OrtizMaría José Requena Tapia
© 2021 Meta ULC. All rights reserved