Literature DB >> 17701450

Standards of care in diagnosis and testing for hereditary colon cancer.

Patrick M Lynch1.   

Abstract

Inherited colorectal cancer predisposition involves a rather heterogeneous range of rare, yet relatively well-defined disorders, including Familial Adenomatous Polyposis (FAP), Hereditary Non-polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, Peutz-Jeghers syndrome, Juvenile Polyposis, and their respective variants. Due to their individual rarity and highly specialized genetic diagnostic and management demands, patients and families are often seen in tertiary referral centers. For the practitioner encountering a patient suspected of having one of these conditions, guidance is usually necessary. Fortunately, detailed clinical practice guidelines have been promulgated by leading medical specialty societies. Such guidelines, which specifically do include these conditions, have the effect of codifying best or recommended approaches. It is not clear that such guidelines actually codify standards of care. To the extent such guidelines enunciate a standard of care, their impact on the legal process remains largely undefined. Because clinical practice guidelines are readily available to patients and lawyers alike through easily accessible websites, practitioners may expect to be increasingly held accountable for departing from such guidelines. Since the medical-legal implications are evident, we expect these guidelines to impact the management of familial cancer, even in the persistent absence of clear precedents in the medical malpractice arena. This paper undertakes to provide practitioners and academics some perspective on clinical practice guidelines and their potential for medical-legal application.

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Year:  2007        PMID: 17701450     DOI: 10.1007/s10689-007-9159-3

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  11 in total

Review 1.  Heart disease, guidelines, regulations, and the law.

Authors:  M C Petch
Journal:  Heart       Date:  2002-05       Impact factor: 5.994

Review 2.  Clinical practice guidelines before the law: sword or shield?

Authors:  J E Pelly; L Newby; F Tito; S Redman; A M Adrian
Journal:  Med J Aust       Date:  1998-09-21       Impact factor: 7.738

Review 3.  Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium.

Authors:  W Burke; G Petersen; P Lynch; J Botkin; M Daly; J Garber; M J Kahn; A McTiernan; K Offit; E Thomson; C Varricchio
Journal:  JAMA       Date:  1997-03-19       Impact factor: 56.272

Review 4.  Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

Authors:  Angela Trepanier; Mary Ahrens; Wendy McKinnon; June Peters; Jill Stopfer; Sherry Campbell Grumet; Susan Manley; Julie O Culver; Ronald Acton; Joy Larsen-Haidle; Lori Ann Correia; Robin Bennett; Barbara Pettersen; Terri Diamond Ferlita; Josephine Wagner Costalas; Katherine Hunt; Susan Donlon; Cecile Skrzynia; Carolyn Farrell; Faith Callif-Daley; Catherine Walsh Vockley
Journal:  J Genet Couns       Date:  2004-04       Impact factor: 2.537

Review 5.  Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review.

Authors:  Noralane M Lindor; Gloria M Petersen; Donald W Hadley; Anita Y Kinney; Susan Miesfeldt; Karen H Lu; Patrick Lynch; Wylie Burke; Nancy Press
Journal:  JAMA       Date:  2006-09-27       Impact factor: 56.272

6.  The "duty to warn" a patient's family members about hereditary disease risks.

Authors:  Kenneth Offit; Elizabeth Groeger; Sam Turner; Eve A Wadsworth; Mary A Weiser
Journal:  JAMA       Date:  2004-09-22       Impact factor: 56.272

7.  Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence.

Authors:  Sidney Winawer; Robert Fletcher; Douglas Rex; John Bond; Randall Burt; Joseph Ferrucci; Theodore Ganiats; Theodore Levin; Steven Woolf; David Johnson; Lynne Kirk; Scott Litin; Clifford Simmang
Journal:  Gastroenterology       Date:  2003-02       Impact factor: 22.682

8.  Practice guidelines and malpractice litigation: a two-way street.

Authors:  A L Hyams; J A Brandenburg; S R Lipsitz; D W Shapiro; T A Brennan
Journal:  Ann Intern Med       Date:  1995-03-15       Impact factor: 25.391

Review 9.  Genetic testing for polyposis: practical and ethical aspects.

Authors:  H J Järvinen
Journal:  Gut       Date:  2003-05       Impact factor: 23.059

10.  Legal considerations of clinical guidelines: will NICE make a difference?

Authors:  Ash Samanta; Jo Samanta; Michael Gunn
Journal:  J R Soc Med       Date:  2003-03       Impact factor: 18.000

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  6 in total

1.  AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

Authors:  Monica L Marvin; Serina M Mazzoni; Casey M Herron; Sean Edwards; Stephen B Gruber; Elizabeth M Petty
Journal:  Am J Med Genet A       Date:  2011-03-17       Impact factor: 2.802

2.  Validation of a self-concept scale for Lynch syndrome in different nationalities.

Authors:  Helle Vendel Petersen; Katarina Domanska; Pär-Ola Bendahl; Jiahui Wong; Christina Carlsson; Inge Bernstein; Mary Jane Esplen; Mef Nilbert
Journal:  J Genet Couns       Date:  2011-01-26       Impact factor: 2.537

3.  Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing.

Authors:  Makia J Marafie; Sadiqa Al-Awadi; Fatemah Al-Mosawi; Alaa Elshafey; Waleed Al-Ali; Fahd Al-Mulla
Journal:  Fam Cancer       Date:  2009-08-08       Impact factor: 2.375

4.  Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population.

Authors:  Tuan A Dinh; Benjamin I Rosner; James C Atwood; C Richard Boland; Sapna Syngal; Hans F A Vasen; Stephen B Gruber; Randall W Burt
Journal:  Cancer Prev Res (Phila)       Date:  2010-11-18

5.  Global quantitative assessment of the colorectal polyp burden in familial adenomatous polyposis by using a web-based tool.

Authors:  Patrick M Lynch; Jeffrey S Morris; William A Ross; Miguel A Rodriguez-Bigas; Juan Posadas; Rossa Khalaf; Diane M Weber; Valerie O Sepeda; Bernard Levin; Imad Shureiqi
Journal:  Gastrointest Endosc       Date:  2013-01-18       Impact factor: 9.427

6.  Sense of coherence and self-concept in Lynch syndrome.

Authors:  Helle Vendel Petersen; Steen Ladelund; Christina Carlsson; Mef Nilbert
Journal:  Hered Cancer Clin Pract       Date:  2013-07-05       Impact factor: 2.857

  6 in total

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