Literature DB >> 22079017

Genetics for the general internist.

Christina M Laukaitis1.   

Abstract

The internist's goal is to determine a patient's disease risk and to implement preventative interventions. Genetic evaluation is a powerful risk assessment tool, and new interventions target previously untreatable genetic disorders. The purpose of this review is to educate the general internist about common genetic conditions affecting adult patients, with special emphasis on diagnoses with an effective intervention, including hereditary cancer syndromes and cardiovascular disorders. Basic tenets of genetic counseling, complex genetic disease, and management of adults with genetic diagnoses also are discussed.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Mesh：

Year:  2011        PMID： 22079017      PMCID： PMC3246053          DOI： 10.1016/j.amjmed.2011.07.034

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


  49 in total

1.  Exemestane for breast-cancer prevention in postmenopausal women.

Authors:  Paul E Goss; James N Ingle; José E Alés-Martínez; Angela M Cheung; Rowan T Chlebowski; Jean Wactawski-Wende; Anne McTiernan; John Robbins; Karen C Johnson; Lisa W Martin; Eric Winquist; Gloria E Sarto; Judy E Garber; Carol J Fabian; Pascal Pujol; Elizabeth Maunsell; Patricia Farmer; Karen A Gelmon; Dongsheng Tu; Harriet Richardson
Journal:  N Engl J Med       Date:  2011-06-04       Impact factor: 91.245

2.  The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Authors:  J M Cunningham; C Y Kim; E R Christensen; D J Tester; Y Parc; L J Burgart; K C Halling; S K McDonnell; D J Schaid; C Walsh Vockley; V Kubly; H Nelson; V V Michels; S N Thibodeau
Journal:  Am J Hum Genet       Date:  2001-08-24       Impact factor: 11.025

Review 3.  Health care management of adults with Down syndrome.

Authors:  D S Smith
Journal:  Am Fam Physician       Date:  2001-09-15       Impact factor: 3.292

4.  Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers.

Authors:  T R Rebbeck; A M Levin; A Eisen; C Snyder; P Watson; L Cannon-Albright; C Isaacs; O Olopade; J E Garber; A K Godwin; M B Daly; S A Narod; S L Neuhausen; H T Lynch; B L Weber
Journal:  J Natl Cancer Inst       Date:  1999-09-01       Impact factor: 13.506

5.  Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.

Authors:  Andrea Eisen; Jan Lubinski; Jan Klijn; Pal Moller; Henry T Lynch; Kenneth Offit; Barbara Weber; Tim Rebbeck; Susan L Neuhausen; Parviz Ghadirian; William D Foulkes; Ruth Gershoni-Baruch; Eitan Friedman; Gadi Rennert; Teresa Wagner; Claudine Isaacs; Charmaine Kim-Sing; Peter Ainsworth; Ping Sun; Steven A Narod
Journal:  J Clin Oncol       Date:  2005-10-20       Impact factor: 44.544

6.  Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.

Authors:  Benjamin S Brooke; Jennifer P Habashi; Daniel P Judge; Nishant Patel; Bart Loeys; Harry C Dietz
Journal:  N Engl J Med       Date:  2008-06-26       Impact factor: 91.245

7.  American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

Authors: 
Journal:  J Clin Oncol       Date:  2003-04-11       Impact factor: 44.544

8.  Influence of apolipoprotein E genotype on the transmission of Alzheimer disease in a community-based sample.

Authors:  G Jarvik; E B Larson; K Goddard; G D Schellenberg; E M Wijsman
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

9.  Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study.

Authors:  Noah D Kauff; Susan M Domchek; Tara M Friebel; Mark E Robson; Johanna Lee; Judy E Garber; Claudine Isaacs; D Gareth Evans; Henry Lynch; Rosalind A Eeles; Susan L Neuhausen; Mary B Daly; Ellen Matloff; Joanne L Blum; Paul Sabbatini; Richard R Barakat; Clifford Hudis; Larry Norton; Kenneth Offit; Timothy R Rebbeck
Journal:  J Clin Oncol       Date:  2008-02-11       Impact factor: 44.544

10.  The application of massively parallel sequencing technologies in diagnostics.

Authors:  Andreas Dahl; Florian Mertes; Bernd Timmermann; Hans Lehrach
Journal:  F1000 Biol Rep       Date:  2010-08-09
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