Literature DB >> 19706204

Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome.

Rolf H Sijmons1.   

Abstract

Cancer is associated with a wide range of hereditary disorders. Recognizing these disorders in cancer patients may be of great importance for the medical management of both patients and their relatives. Conversely, recognizing the fact that cancer may develop as a complication of a particular hereditary disorder which has already been diagnosed may be important for the same reason. The Familial Cancer Database (FaCD) is a web-based application http://www.facd.info which has been developed at our department with the intention to assist clinicians and genetic counsellors in making a genetic differential diagnosis in cancer patients, as well as in becoming aware of the tumour spectrum associated with hereditary disorders that have already been diagnosed in their patients. This encyclopaedia is published in parts and discusses the disorders included in the FaCD database in alphabetical order. It lists names, synonyms, OMIM number, mode of inheritance, associated genes, phenotype, clinical discussion and references. The purpose of presenting this encyclopaedia in paper format is simply that we hope that you as clinicians and researchers find it helpful to browse through it and familiarize yourself even better with the scope of genetic disorders that have been associated with increased tumour risk.

Entities:  

Year:  2008        PMID: 19706204      PMCID: PMC2735164          DOI: 10.1186/1897-4287-6-1-22

Source DB:  PubMed          Journal:  Hered Cancer Clin Pract        ISSN: 1731-2302            Impact factor:   2.857


  5 in total

1.  Familial Cushing's syndrome. Micronodular adrenocortical dysplasia.

Authors:  B O Hodge; T A Froesch
Journal:  Arch Intern Med       Date:  1988-05

Review 2.  Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors.

Authors:  Stavroula Christopoulos; Isabelle Bourdeau; André Lacroix
Journal:  Horm Res       Date:  2005

3.  Familial Cushing's syndrome due to nodular adrenocortical dysplasia is an inherited disease of immunological origin.

Authors:  F Teding van Berkhout; R J Croughs; N M Wulffraat; H A Drexhage
Journal:  Clin Endocrinol (Oxf)       Date:  1989-08       Impact factor: 3.478

4.  Familial adrenocorticotropin-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia.

Authors:  J C Findlay; L R Sheeler; W C Engeland; D C Aron
Journal:  J Clin Endocrinol Metab       Date:  1993-01       Impact factor: 5.958

5.  Familial congenital Cushing's syndrome due to bilateral nodular adrenal hyperplasia.

Authors:  M D Donaldson; D B Grant; M J O'Hare; C H Shackleton
Journal:  Clin Endocrinol (Oxf)       Date:  1981-05       Impact factor: 3.478

  5 in total
  2 in total

1.  Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.

Authors:  Fabio R Faucz; Mihail Zilbermint; Maya B Lodish; Eva Szarek; Giampaolo Trivellin; Ninet Sinaii; Annabel Berthon; Rossella Libé; Guillaume Assié; Stéphanie Espiard; Ludivine Drougat; Bruno Ragazzon; Jerome Bertherat; Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2014-03-06       Impact factor: 5.958

2.  The genetic landscape of high-risk neuroblastoma.

Authors:  Trevor J Pugh; Olena Morozova; Edward F Attiyeh; Shahab Asgharzadeh; Jun S Wei; Daniel Auclair; Scott L Carter; Kristian Cibulskis; Megan Hanna; Adam Kiezun; Jaegil Kim; Michael S Lawrence; Lee Lichenstein; Aaron McKenna; Chandra Sekhar Pedamallu; Alex H Ramos; Erica Shefler; Andrey Sivachenko; Carrie Sougnez; Chip Stewart; Adrian Ally; Inanc Birol; Readman Chiu; Richard D Corbett; Martin Hirst; Shaun D Jackman; Baljit Kamoh; Alireza Hadj Khodabakshi; Martin Krzywinski; Allan Lo; Richard A Moore; Karen L Mungall; Jenny Qian; Angela Tam; Nina Thiessen; Yongjun Zhao; Kristina A Cole; Maura Diamond; Sharon J Diskin; Yael P Mosse; Andrew C Wood; Lingyun Ji; Richard Sposto; Thomas Badgett; Wendy B London; Yvonne Moyer; Julie M Gastier-Foster; Malcolm A Smith; Jaime M Guidry Auvil; Daniela S Gerhard; Michael D Hogarty; Steven J M Jones; Eric S Lander; Stacey B Gabriel; Gad Getz; Robert C Seeger; Javed Khan; Marco A Marra; Matthew Meyerson; John M Maris
Journal:  Nat Genet       Date:  2013-01-20       Impact factor: 38.330

  2 in total

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