Literature DB >> 22314809

Genetics of pancreatitis: an update for clinicians and genetic counselors.

Sheila Solomon1, David C Whitcomb.   

Abstract

With novel genetic technologies available, there is a paradigm shift in the way that risk assessments, diagnoses,and therapies for genetic susceptibility syndromes are addressed. Hereditary pancreatitis is among these conditions, for which genetic counseling and next generation sequencing, help families better understand, cope with and live healthier lives. Identifying a genetic etiology to a condition formally believed to be solely environmentally induced can alter the path for treatment for many patients. This finding introduces the concept of gene-environment interactions in human disease and the relationship between genetic predisposition and exposure risk in disease development. The genetic counseling process is complex with medical explanations, psychosocial issues relating to coping with diagnosis, potential future health problems, recurrence risks and family planning. These sometimes difficult conversations can be facilitated by a genetic counselor as a member of the multidisciplinary team. This chapter addresses the intricate medical and psychosocial issues that can arise in the setting of treating patients with hereditary pancreatitis.

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Year:  2012        PMID: 22314809      PMCID: PMC5654383          DOI: 10.1007/s11894-012-0240-1

Source DB:  PubMed          Journal:  Curr Gastroenterol Rep        ISSN: 1522-8037


  26 in total

1.  Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Authors:  Alexander Schneider; Jessica Larusch; Xiumei Sun; Amy Aloe; Janette Lamb; Robert Hawes; Peter Cotton; Randall E Brand; Michelle A Anderson; Mary E Money; Peter A Banks; Michele D Lewis; John Baillie; Stuart Sherman; James Disario; Frank R Burton; Timothy B Gardner; Stephen T Amann; Andres Gelrud; Ryan George; Matthew J Rockacy; Sirvart Kassabian; Jeremy Martinson; Adam Slivka; Dhiraj Yadav; Nevin Oruc; M Michael Barmada; Raymond Frizzell; David C Whitcomb
Journal:  Gastroenterology       Date:  2010-10-25       Impact factor: 22.682

2.  Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations.

Authors:  P G Noone; Z Zhou; L M Silverman; P S Jowell; M R Knowles; J A Cohn
Journal:  Gastroenterology       Date:  2001-12       Impact factor: 22.682

Review 3.  Molecular and cellular mechanisms of pancreatic injury.

Authors:  Edwin C Thrower; Fred S Gorelick; Sohail Z Husain
Journal:  Curr Opin Gastroenterol       Date:  2010-09       Impact factor: 3.287

Review 4.  A clinical and radiologic review of uncommon types and causes of pancreatitis.

Authors:  Alampady Krishna Prasad Shanbhogue; Najla Fasih; Venkateswar R Surabhi; Geoffrey P Doherty; Divya Krishna Prasad Shanbhogue; Sumer K Sethi
Journal:  Radiographics       Date:  2009 Jul-Aug       Impact factor: 5.333

5.  Reducing extracellular pH sensitizes the acinar cell to secretagogue-induced pancreatitis responses in rats.

Authors:  Madhavi Bhoomagoud; Thomas Jung; Jorunn Atladottir; Thomas R Kolodecik; Christine Shugrue; Anamika Chaudhuri; Edwin C Thrower; Fred S Gorelick
Journal:  Gastroenterology       Date:  2009-05-18       Impact factor: 22.682

Review 6.  Emerging concepts for the mechanism of alcoholic pancreatitis from experimental models.

Authors:  Stephen J Pandol; Ilya Gukovsky; Akihiko Satoh; Aurelia Lugea; Anna S Gukovskaya
Journal:  J Gastroenterol       Date:  2003       Impact factor: 7.527

Review 7.  Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.

Authors:  Heiko Witt; Minoti V Apte; Volker Keim; Jeremy S Wilson
Journal:  Gastroenterology       Date:  2007-04       Impact factor: 22.682

8.  Protease-activated receptor 2 exerts local protection and mediates some systemic complications in acute pancreatitis.

Authors:  Wan Namkung; Wonsun Han; Xiang Luo; Shmuel Muallem; Kyung Hee Cho; Kyung Hwan Kim; Min Goo Lee
Journal:  Gastroenterology       Date:  2004-06       Impact factor: 22.682

9.  Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.

Authors:  Emmanuelle Masson; Cédric Le Maréchal; Richard Delcenserie; Jian-Min Chen; Claude Férec
Journal:  Hum Genet       Date:  2008-05-07       Impact factor: 4.132

10.  Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

Authors:  Elie Aoun; Chung-Chou H Chang; Julia B Greer; Georgios I Papachristou; M Michael Barmada; David C Whitcomb
Journal:  PLoS One       Date:  2008-04-16       Impact factor: 3.240

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  15 in total

Review 1.  Genetic risk factors for pancreatic disorders.

Authors:  David C Whitcomb
Journal:  Gastroenterology       Date:  2013-06       Impact factor: 22.682

Review 2.  The Surgeon's Role in Treating Chronic Pancreatitis and Incidentally Discovered Pancreatic Lesions.

Authors:  Vikrom K Dhar; Brent T Xia; Syed A Ahmad
Journal:  J Gastrointest Surg       Date:  2017-08-14       Impact factor: 3.452

3.  Genetics and treatment options for recurrent acute and chronic pancreatitis.

Authors:  Celeste A Shelton; David C Whitcomb
Journal:  Curr Treat Options Gastroenterol       Date:  2014-09

Review 4.  What's unique about acute pancreatitis in children: risk factors, diagnosis and management.

Authors:  Sohail Z Husain; Arvind I Srinath
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2017-03-15       Impact factor: 46.802

Review 5.  Genetics of acute and chronic pancreatitis.

Authors:  Rawad Mounzer; David C Whitcomb
Journal:  Curr Opin Gastroenterol       Date:  2013-09       Impact factor: 3.287

Review 6.  Early detection of pancreatic cancer.

Authors:  Victoria M Kim; Nita Ahuja
Journal:  Chin J Cancer Res       Date:  2015-08       Impact factor: 5.087

7.  Risk Assessment and Genetic Testing for Inherited Gastrointestinal Syndromes.

Authors:  Jessica Stoll; Sonia S Kupfer
Journal:  Gastroenterol Hepatol (N Y)       Date:  2019-09

8.  The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.

Authors:  Jessica LaRusch; Antonio Lozano-Leon; Kimberly Stello; Amanda Moore; Venkata Muddana; Michael O'Connell; Brenda Diergaarde; Dhiraj Yadav; David C Whitcomb
Journal:  Clin Transl Gastroenterol       Date:  2015-01-08       Impact factor: 4.488

9.  Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.

Authors:  Dorota Koziel; Stanislaw Gluszek; Artur Kowalik; Malgorzata Chlopek; Liliana Pieciak
Journal:  BMC Gastroenterol       Date:  2015-06-23       Impact factor: 3.067

Review 10.  Hereditary pancreatitis: current perspectives.

Authors:  Kara L Raphael; Field F Willingham
Journal:  Clin Exp Gastroenterol       Date:  2016-07-26
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