Literature DB >> 24123833

Developmental disease and cancer: biological and clinical overlaps.

Alfonso Bellacosa1.   

Abstract

Numerous parallelisms exist between development and cancer. In this article, I review some of the founding ideas linking development and cancer, and highlight clinical conditions exhibiting features of both developmental derangement and cancer predisposition, including cohesinopathies, rasopathies, phakomatoses, Proteus syndrome and other overgrowth disorders, recessive chromosome breakage syndromes, and dominant hereditary cancer syndromes. I suggest that these disorders encompass a continuous spectrum spanning clinical genetics and clinical oncology, and derive some general implications that might be useful in the future for the treatment of these diseases.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  cancer; development

Mesh：

Year:  2013        PMID： 24123833      PMCID： PMC4251736          DOI： 10.1002/ajmg.a.36267

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  52 in total

1.  Mutant AKT1 in Proteus syndrome.

Authors:  Deborah J Marsh; Toby N Trahair; Edwin P Kirk
Journal:  N Engl J Med       Date:  2011-12-01       Impact factor: 91.245

2.  Mutations in PIK3R1 cause SHORT syndrome.

Authors:  David A Dyment; Amanda C Smith; Diana Alcantara; Jeremy A Schwartzentruber; Lina Basel-Vanagaite; Cynthia J Curry; I Karen Temple; William Reardon; Sahar Mansour; Mushfequr R Haq; Rodney Gilbert; Ordan J Lehmann; Megan R Vanstone; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Kym M Boycott; A Micheil Innes
Journal:  Am J Hum Genet       Date:  2013-06-27       Impact factor: 11.025

3.  Gene expression in neoplasia and differentiation.

Authors:  B Mintz
Journal:  Harvey Lect       Date:  1978

Review 4.  Clonal basis of mammalian differentiation.

Authors:  B Mintz
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Review 5.  Connecting molecular pathways to hereditary cancer risk syndromes.

Authors:  Joseph R Testa; David Malkin; Joshua D Schiffman
Journal:  Am Soc Clin Oncol Educ Book       Date:  2013

6.  Endogenous DNA double-strand breaks: production, fidelity of repair, and induction of cancer.

Authors:  Michael M Vilenchik; Alfred G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  2003-10-17       Impact factor: 11.205

7.  A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

Authors:  Megan N Farley; Laura S Schmidt; W Marston Linehan; James Brugarolas; Jessica L Mester; Samuel Pena-Llopis; Andrea Pavia-Jimenez; Alana Christie; Cathy D Vocke; Christopher J Ricketts; James Peterson; Lindsay Middelton; Lisa Kinch; Nick Grishin; Maria J Merino; Adam R Metwalli; Chao Xing; Xian-Jin Xie; Patricia L M Dahia; Charis Eng
Journal:  Mol Cancer Res       Date:  2013-05-24       Impact factor: 5.852

8.  PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Authors:  Christel Thauvin-Robinet; Martine Auclair; Laurence Duplomb; Martine Caron-Debarle; Magali Avila; Judith St-Onge; Martine Le Merrer; Bernard Le Luyer; Delphine Héron; Michèle Mathieu-Dramard; Pierre Bitoun; Jean-Michel Petit; Sylvie Odent; Jeanne Amiel; Damien Picot; Virginie Carmignac; Julien Thevenon; Patrick Callier; Martine Laville; Yves Reznik; Cédric Fagour; Marie-Laure Nunes; Jacqueline Capeau; Olivier Lascols; Frédéric Huet; Laurence Faivre; Corinne Vigouroux; Jean-Baptiste Rivière
Journal:  Am J Hum Genet       Date:  2013-06-27       Impact factor: 11.025

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

10.  A family with severe insulin resistance and diabetes due to a mutation in AKT2.

Authors:  Stella George; Justin J Rochford; Christian Wolfrum; Sarah L Gray; Sven Schinner; Jenny C Wilson; Maria A Soos; Peter R Murgatroyd; Rachel M Williams; Carlo L Acerini; David B Dunger; David Barford; A Margot Umpleby; Nicholas J Wareham; Huw Alban Davies; Alan J Schafer; Markus Stoffel; Stephen O'Rahilly; Inês Barroso
Journal:  Science       Date:  2004-05-28       Impact factor: 47.728
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  10 in total

1.  Augmented BMP signaling commits cranial neural crest cells to a chondrogenic fate by suppressing autophagic β-catenin degradation.

Authors:  Jingwen Yang; Megumi Kitami; Haichun Pan; Masako Toda Nakamura; Honghao Zhang; Fei Liu; Lingxin Zhu; Yoshihiro Komatsu; Yuji Mishina
Journal:  Sci Signal       Date:  2021-01-12       Impact factor: 8.192

2.  Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

Authors:  Chenjie Zeng; Lisa A Bastarache; Ran Tao; Eric Venner; Scott Hebbring; Justin D Andujar; Sarah T Bland; David R Crosslin; Siddharth Pratap; Ayorinde Cooley; Jennifer A Pacheco; Kurt D Christensen; Emma Perez; Carrie L Blout Zawatsky; Leora Witkowski; Hana Zouk; Chunhua Weng; Kathleen A Leppig; Patrick M A Sleiman; Hakon Hakonarson; Marc S Williams; Yuan Luo; Gail P Jarvik; Robert C Green; Wendy K Chung; Ali G Gharavi; Niall J Lennon; Heidi L Rehm; Richard A Gibbs; Josh F Peterson; Dan M Roden; Georgia L Wiesner; Joshua C Denny
Journal:  JAMA Oncol       Date:  2022-06-01       Impact factor: 33.006

3.  A genome-wide analysis of colorectal cancer in a child with Noonan syndrome.

Authors:  Rahul M Prasad; Rajen J Mody; George Myers; Melisa Mullins; Zaher Naji; James D Geiger
Journal:  Pediatr Blood Cancer       Date:  2018-07-24       Impact factor: 3.167

Review 4.  Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Authors:  Laura M McDonell; Kristin D Kernohan; Kym M Boycott; Sarah L Sawyer
Journal:  Hum Mol Genet       Date:  2015-07-07       Impact factor: 6.150

5.  Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Authors:  James T Bennett; Tiong Yang Tan; Diana Alcantara; Martine Tétrault; Andrew E Timms; Dana Jensen; Sarah Collins; Malgorzata J M Nowaczyk; Marjorie J Lindhurst; Katherine M Christensen; Stephen R Braddock; Heather Brandling-Bennett; Raoul C M Hennekam; Brian Chung; Anna Lehman; John Su; SuYuen Ng; David J Amor; Jacek Majewski; Les G Biesecker; Kym M Boycott; William B Dobyns; Mark O'Driscoll; Ute Moog; Laura M McDonell
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

Review 6.  Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies.

Authors:  Pablo Lapunzina; Rocío Ortiz López; Lara Rodríguez-Laguna; Purificación García-Miguel; Augusto Rojas Martínez; Víctor Martínez-Glez
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

Review 7.  Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Authors:  Hugh J S Dawkins; Ruxandra Draghia-Akli; Paul Lasko; Lilian P L Lau; Anneliene H Jonker; Christine M Cutillo; Ana Rath; Kym M Boycott; Gareth Baynam; Hanns Lochmüller; Petra Kaufmann; Yann Le Cam; Virginie Hivert; Christopher P Austin
Journal:  Clin Transl Sci       Date:  2017-10-23       Impact factor: 4.689

8.  Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner.

Authors:  Ralitsa R Madsen; Rachel G Knox; Wayne Pearce; Saioa Lopez; Betania Mahler-Araujo; Nicholas McGranahan; Bart Vanhaesebroeck; Robert K Semple
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-04       Impact factor: 11.205

Review 9.  Cancer: An unknown territory; rethinking before going ahead.

Authors:  Arun Upadhyay
Journal:  Genes Dis       Date:  2020-09-18

10.  A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Authors:  Roser Urreizti; Sarah Damanti; Carla Esteve; Héctor Franco-Valls; Laura Castilla-Vallmanya; Raul Tonda; Bru Cormand; Lluïsa Vilageliu; John M Opitz; Giovanni Neri; Daniel Grinberg; Susana Balcells
Journal:  Sci Rep       Date:  2018-01-12       Impact factor: 4.379
  10 in total

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