Literature DB >> 24429628

Realizing the promise of cancer predisposition genes.

Nazneen Rahman1.   

Abstract

Genes in which germline mutations confer highly or moderately increased risks of cancer are called cancer predisposition genes. More than 100 of these genes have been identified, providing important scientific insights in many areas, particularly the mechanisms of cancer causation. Moreover, clinical utilization of cancer predisposition genes has had a substantial impact on diagnosis, optimized management and prevention of cancer. The recent transformative advances in DNA sequencing hold the promise of many more cancer predisposition gene discoveries, and greater and broader clinical applications. However, there is also considerable potential for incorrect inferences and inappropriate clinical applications. Realizing the promise of cancer predisposition genes for science and medicine will thus require careful navigation.

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Year:  2014        PMID: 24429628      PMCID: PMC4975511          DOI: 10.1038/nature12981

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  109 in total

Review 1.  A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer.

Authors:  Rajini Seevaratnam; Natalie Coburn; Roberta Cardoso; Matthew Dixon; Alina Bocicariu; Lucy Helyer
Journal:  Gastric Cancer       Date:  2011-12-10       Impact factor: 7.370

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3.  Outcome of BRCA1- compared with BRCA2-associated ovarian cancer: a nationwide study in the Netherlands.

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Journal:  Ann Oncol       Date:  2013-03-29       Impact factor: 32.976

4.  Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Authors:  Iñaki Comino-Méndez; Francisco J Gracia-Aznárez; Francesca Schiavi; Iñigo Landa; Luis J Leandro-García; Rocío Letón; Emiliano Honrado; Rocío Ramos-Medina; Daniela Caronia; Guillermo Pita; Alvaro Gómez-Graña; Aguirre A de Cubas; Lucía Inglada-Pérez; Agnieszka Maliszewska; Elisa Taschin; Sara Bobisse; Giuseppe Pica; Paola Loli; Rafael Hernández-Lavado; José A Díaz; Mercedes Gómez-Morales; Anna González-Neira; Giovanna Roncador; Cristina Rodríguez-Antona; Javier Benítez; Massimo Mannelli; Giuseppe Opocher; Mercedes Robledo; Alberto Cascón
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330

5.  SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

Authors:  Huai-Xiang Hao; Oleh Khalimonchuk; Margit Schraders; Noah Dephoure; Jean-Pierre Bayley; Henricus Kunst; Peter Devilee; Cor W R J Cremers; Joshua D Schiffman; Brandon G Bentz; Steven P Gygi; Dennis R Winge; Hannie Kremer; Jared Rutter
Journal:  Science       Date:  2009-07-23       Impact factor: 47.728

6.  Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

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Journal:  Am J Hum Genet       Date:  2008-03-20       Impact factor: 11.025

7.  Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

Authors:  D Malkin; F P Li; L C Strong; J F Fraumeni; C E Nelson; D H Kim; J Kassel; M A Gryka; F Z Bischoff; M A Tainsky
Journal:  Science       Date:  1990-11-30       Impact factor: 47.728

8.  Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Authors:  Charlotte M Niemeyer; Michelle W Kang; Danielle H Shin; Ingrid Furlan; Miriam Erlacher; Nancy J Bunin; Severa Bunda; Jerry Z Finklestein; Thomas A Gorr; Parinda Mehta; Irene Schmid; Gabriele Kropshofer; Selim Corbacioglu; Peter J Lang; Christoph Klein; Paul-Gerhard Schlegel; Andrea Heinzmann; Michaela Schneider; Jan Starý; Marry M van den Heuvel-Eibrink; Henrik Hasle; Franco Locatelli; Debbie Sakai; Sophie Archambeault; Leslie Chen; Ryan C Russell; Stephanie S Sybingco; Michael Ohh; Benjamin S Braun; Christian Flotho; Mignon L Loh
Journal:  Nat Genet       Date:  2010-08-08       Impact factor: 38.330

9.  Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

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Journal:  Nat Genet       Date:  2008-10-05       Impact factor: 38.330

10.  Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Authors:  Yoko Aoki; Tetsuya Niihori; Hiroshi Kawame; Kenji Kurosawa; Hirofumi Ohashi; Yukichi Tanaka; Mirella Filocamo; Kumi Kato; Yoichi Suzuki; Shigeo Kure; Yoichi Matsubara
Journal:  Nat Genet       Date:  2005-09-18       Impact factor: 38.330

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  204 in total

Review 1.  Small RNAs with big implications: new insights into H/ACA snoRNA function and their role in human disease.

Authors:  Mary McMahon; Adrian Contreras; Davide Ruggero
Journal:  Wiley Interdiscip Rev RNA       Date:  2014-10-31       Impact factor: 9.957

Review 2.  Population genetic testing for cancer susceptibility: founder mutations to genomes.

Authors:  William D Foulkes; Bartha Maria Knoppers; Clare Turnbull
Journal:  Nat Rev Clin Oncol       Date:  2015-10-20       Impact factor: 66.675

3.  Radiogenomic Predictors of Adverse Effects following Charged Particle Therapy.

Authors:  Lindsay M Morton; Luisel Ricks-Santi; Catharine M L West; Barry S Rosenstein
Journal:  Int J Part Ther       Date:  2018-09-21

4.  Endogenous network states predict gain or loss of functions for genetic mutations in hepatocellular carcinoma.

Authors:  Gaowei Wang; Hang Su; Helin Yu; Ruoshi Yuan; Xiaomei Zhu; Ping Ao
Journal:  J R Soc Interface       Date:  2016-02       Impact factor: 4.118

5.  High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients.

Authors:  Justin Chen; Maria K Haanpää; Joshua J Gruber; Natalie Jäger; James M Ford; Michael P Snyder
Journal:  Clin Cancer Res       Date:  2019-06-07       Impact factor: 12.531

6.  Germline RAD51B truncating mutation in a family with cutaneous melanoma.

Authors:  Karin A W Wadt; Lauren G Aoude; Lisa Golmard; Thomas V O Hansen; Xavier Sastre-Garau; Nicholas K Hayward; Anne-Marie Gerdes
Journal:  Fam Cancer       Date:  2015-06       Impact factor: 2.375

7.  Genetic Risk for Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.

Authors:  Zhaoming Wang; Carmen L Wilson; John Easton; Andrew Thrasher; Heather Mulder; Qi Liu; Dale J Hedges; Shuoguo Wang; Michael C Rusch; Michael N Edmonson; Shawn Levy; Jennifer Q Lanctot; Eric Caron; Kyla Shelton; Kelsey Currie; Matthew Lear; Aman Patel; Celeste Rosencrance; Ying Shao; Bhavin Vadodaria; Donald Yergeau; Yadav Sapkota; Russell J Brooke; Wonjong Moon; Evadnie Rampersaud; Xiaotu Ma; Ti-Cheng Chang; Stephen V Rice; Cynthia Pepper; Xin Zhou; Xiang Chen; Wenan Chen; Angela Jones; Braden Boone; Matthew J Ehrhardt; Matthew J Krasin; Rebecca M Howell; Nicholas S Phillips; Courtney Lewis; Deokumar Srivastava; Ching-Hon Pui; Chimene A Kesserwan; Gang Wu; Kim E Nichols; James R Downing; Melissa M Hudson; Yutaka Yasui; Leslie L Robison; Jinghui Zhang
Journal:  J Clin Oncol       Date:  2018-05-30       Impact factor: 44.544

8.  HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Metastatic pheochromocytomas and paragangliomas: proceedings of the MEN2019 workshop.

Authors:  Patricia L M Dahia; Roderick Clifton-Bligh; Anne-Paule Gimenez-Roqueplo; Mercedes Robledo; Camilo Jimenez
Journal:  Endocr Relat Cancer       Date:  2020-08       Impact factor: 5.678

Review 9.  Bioinformatic approaches to augment study of epithelial-to-mesenchymal transition in lung cancer.

Authors:  Tim N Beck; Adaeze J Chikwem; Nehal R Solanki; Erica A Golemis
Journal:  Physiol Genomics       Date:  2014-08-05       Impact factor: 3.107

10.  Mainstreaming genetic testing of cancer predisposition genes.

Authors:  Nazneen Rahman
Journal:  Clin Med (Lond)       Date:  2014-08       Impact factor: 2.659

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