Literature DB >> 29401305

Population Testing for High Penetrance Genes: Are We There Yet?

Nicolas Wentzensen1, Christine D Berg1.   

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Year:  2018        PMID: 29401305      PMCID: PMC6279254          DOI: 10.1093/jnci/djx282

Source DB:  PubMed          Journal:  J Natl Cancer Inst        ISSN: 0027-8874            Impact factor:   13.506


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2.  Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Authors:  Frederick E Dewey; Michael F Murray; John D Overton; Lukas Habegger; Joseph B Leader; Samantha N Fetterolf; Colm O'Dushlaine; Cristopher V Van Hout; Jeffrey Staples; Claudia Gonzaga-Jauregui; Raghu Metpally; Sarah A Pendergrass; Monica A Giovanni; H Lester Kirchner; Suganthi Balasubramanian; Noura S Abul-Husn; Dustin N Hartzel; Daniel R Lavage; Korey A Kost; Jonathan S Packer; Alexander E Lopez; John Penn; Semanti Mukherjee; Nehal Gosalia; Manoj Kanagaraj; Alexander H Li; Lyndon J Mitnaul; Lance J Adams; Thomas N Person; Kavita Praveen; Anthony Marcketta; Matthew S Lebo; Christina A Austin-Tse; Heather M Mason-Suares; Shannon Bruse; Scott Mellis; Robert Phillips; Neil Stahl; Andrew Murphy; Aris Economides; Kimberly A Skelding; Christopher D Still; James R Elmore; Ingrid B Borecki; George D Yancopoulos; F Daniel Davis; William A Faucett; Omri Gottesman; Marylyn D Ritchie; Alan R Shuldiner; Jeffrey G Reid; David H Ledbetter; Aris Baras; David J Carey
Journal:  Science       Date:  2016-12-23       Impact factor: 47.728

Review 3.  From differences in means between cases and controls to risk stratification: a business plan for biomarker development.

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4.  BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

Authors:  Tuya Pal; Jenny Permuth-Wey; Judith A Betts; Jeffrey P Krischer; James Fiorica; Hector Arango; James LaPolla; Mitchell Hoffman; Martin A Martino; Katie Wakeley; George Wilbanks; Santo Nicosia; Alan Cantor; Rebecca Sutphen
Journal:  Cancer       Date:  2005-12-15       Impact factor: 6.860

5.  The prevalence of DICER1 pathogenic variation in population databases.

Authors:  Jung Kim; Amanda Field; Kris Ann P Schultz; D Ashley Hill; Douglas R Stewart
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Review 6.  Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Authors:  Philippe M Campeau; William D Foulkes; Marc D Tischkowitz
Journal:  Hum Genet       Date:  2008-06-25       Impact factor: 4.132

7.  Characterization of BRCA1 and BRCA2 mutations in a large United States sample.

Authors:  Sining Chen; Edwin S Iversen; Tara Friebel; Dianne Finkelstein; Barbara L Weber; Andrea Eisen; Leif E Peterson; Joellen M Schildkraut; Claudine Isaacs; Beth N Peshkin; Camille Corio; Leoni Leondaridis; Gail Tomlinson; Debra Dutson; Rich Kerber; Christopher I Amos; Louise C Strong; Donald A Berry; David M Euhus; Giovanni Parmigiani
Journal:  J Clin Oncol       Date:  2006-02-20       Impact factor: 44.544

8.  Long-term mortality associated with oophorectomy compared with ovarian conservation in the nurses' health study.

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Journal:  Obstet Gynecol       Date:  2013-04       Impact factor: 7.661

9.  Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.

Authors:  Ranjit Manchanda; Shreeya Patel; Vladimir S Gordeev; Antonis C Antoniou; Shantel Smith; Andrew Lee; John L Hopper; Robert J MacInnis; Clare Turnbull; Susan J Ramus; Simon A Gayther; Paul D P Pharoah; Usha Menon; Ian Jacobs; Rosa Legood
Journal:  J Natl Cancer Inst       Date:  2018-07-01       Impact factor: 13.506

10.  Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.

Authors:  Ranjit Manchanda; Rosa Legood; Matthew Burnell; Alistair McGuire; Maria Raikou; Kelly Loggenberg; Jane Wardle; Saskia Sanderson; Sue Gessler; Lucy Side; Nyala Balogun; Rakshit Desai; Ajith Kumar; Huw Dorkins; Yvonne Wallis; Cyril Chapman; Rohan Taylor; Chris Jacobs; Ian Tomlinson; Uziel Beller; Usha Menon; Ian Jacobs
Journal:  J Natl Cancer Inst       Date:  2014-11-30       Impact factor: 13.506

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  3 in total

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2.  Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Authors:  Siddhartha Yadav; Chunling Hu; Steven N Hart; Nicholas Boddicker; Eric C Polley; Jie Na; Rohan Gnanaolivu; Kun Y Lee; Tricia Lindstrom; Sebastian Armasu; Patrick Fitz-Gibbon; Karthik Ghosh; Daniela L Stan; Sandhya Pruthi; Lonzetta Neal; Nicole Sandhu; Deborah J Rhodes; Christine Klassen; Prema P Peethambaram; Tufia C Haddad; Janet E Olson; Tanya L Hoskin; Matthew P Goetz; Susan M Domchek; Judy C Boughey; Kathryn J Ruddy; Fergus J Couch
Journal:  J Clin Oncol       Date:  2020-03-03       Impact factor: 44.544

3.  Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Authors:  Soo-Hwang Teo; Jingmei Li; Mikael Hartman; Peh Joo Ho; Weang Kee Ho; Alexis J Khng; Yen Shing Yeoh; Benita Kiat-Tee Tan; Ern Yu Tan; Geok Hoon Lim; Su-Ming Tan; Veronique Kiak Mien Tan; Cheng-Har Yip; Nur-Aishah Mohd-Taib; Fuh Yong Wong; Elaine Hsuen Lim; Joanne Ngeow; Wen Yee Chay; Lester Chee Hao Leong; Wei Sean Yong; Chin Mui Seah; Siau Wei Tang; Celene Wei Qi Ng; Zhiyan Yan; Jung Ah Lee; Kartini Rahmat; Tania Islam; Tiara Hassan; Mei-Chee Tai; Chiea Chuen Khor; Jian-Min Yuan; Woon-Puay Koh; Xueling Sim; Alison M Dunning; Manjeet K Bolla; Antonis C Antoniou
Journal:  BMC Med       Date:  2022-04-26       Impact factor: 11.150

  3 in total

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