Literature DB >> 30166705

THE GORDON WILSON LECTURE: CANCER GENE VARIANT (RE)CLASSIFICATION: FROM TRUTHINESS TO TRUTH.

Theodora Ross1.   

Abstract

The new genetics, defined as that which followed the completion of the human genome project and includes development of rapid and cheaper next-generation sequencing (NGS), is impacting our medical world in several ways (1). As is the case in any new area of medicine, the field is infused with "truthiness," where instead, what is needed for good patient care and scientific rigor is an effort to close in on the truth. Today, I'll discuss how variation in the human genome is being evaluated and re-evaluated as we sequence more and more of our patients' genes.

Entities:  

Mesh：

Year:  2018        PMID： 30166705      PMCID： PMC6116599     

Source DB:  PubMed          Journal:  Trans Am Clin Climatol Assoc        ISSN： 0065-7778


  28 in total

1.  Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

Authors:  M C Gorry; D Gabbaizedeh; W Furey; L K Gates; R A Preston; C E Aston; Y Zhang; C Ulrich; G D Ehrlich; D C Whitcomb
Journal:  Gastroenterology       Date:  1997-10       Impact factor: 22.682

Review 2.  Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers.

Authors:  Brian Drohan; Constance A Roche; James C Cusack; Kevin S Hughes
Journal:  Ann Surg Oncol       Date:  2012-03-17       Impact factor: 5.344

3.  Economics. Behavioral economics and the retirement savings crisis.

Authors:  Shlomo Benartzi; Richard H Thaler
Journal:  Science       Date:  2013-03-08       Impact factor: 47.728

4.  The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.

Authors:  J P Struewing; P Hartge; S Wacholder; S M Baker; M Berlin; M McAdams; M M Timmerman; L C Brody; M A Tucker
Journal:  N Engl J Med       Date:  1997-05-15       Impact factor: 91.245

5.  Inherited Mutations in Women With Ovarian Carcinoma.

Authors:  Barbara M Norquist; Maria I Harrell; Mark F Brady; Tom Walsh; Ming K Lee; Suleyman Gulsuner; Sarah S Bernards; Silvia Casadei; Qian Yi; Robert A Burger; John K Chan; Susan A Davidson; Robert S Mannel; Paul A DiSilvestro; Heather A Lankes; Nilsa C Ramirez; Mary Claire King; Elizabeth M Swisher; Michael J Birrer
Journal:  JAMA Oncol       Date:  2016-04       Impact factor: 31.777

6.  Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function.

Authors:  Victoria E Mgbemena; Robert A J Signer; Ranjula Wijayatunge; Travis Laxson; Sean J Morrison; Theodora S Ross
Journal:  Cell Rep       Date:  2017-01-24       Impact factor: 9.423

7.  Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis.

Authors:  Carmen A Sánchez-Ramírez; Silvia E Flores-Martínez; Alejandra G García-Zapién; Sergio A Montero-Cruz; Alfredo Larrosa-Haro; José Sánchez-Corona
Journal:  Pancreas       Date:  2012-07       Impact factor: 3.327

8.  BRCA2 mutations in primary breast and ovarian cancers.

Authors:  J M Lancaster; R Wooster; J Mangion; C M Phelan; C Cochran; C Gumbs; S Seal; R Barfoot; N Collins; G Bignell; S Patel; R Hamoudi; C Larsson; R W Wiseman; A Berchuck; J D Iglehart; J R Marks; A Ashworth; M R Stratton; P A Futreal
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

9.  Do celebrity endorsements matter? Observational study of BRCA gene testing and mastectomy rates after Angelina Jolie's New York Times editorial.

Authors:  Sunita Desai; Anupam B Jena
Journal:  BMJ       Date:  2016-12-14

10.  Restoring the patient's voice: the case of Gilda Radner.

Authors:  A H Hawkins
Journal:  Yale J Biol Med       Date:  1992 May-Jun
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