Literature DB >> 36073228

[A family with clustered Lynch syndrome: a case report].

X Zhu1, L Cai1, J Xiao1.   

Abstract

Lynch syndrome (LS) is an autosomal dominant hereditary disease caused by deletion of such DNA mismatch repair (MMR) genes as MLH1, MSH2, MSH6, and PMS2. The functional loss of MMR genes results in instability of the highly repetitive DNA sequence, and may eventually leads to tumor occurrence. Here we report a case of LS- related endometrial cancer in a clustered LS family identified by genetic counseling and genetic testing. For patients with a family history of LSrelated tumors, the diagnosis of LS should be considered, and immunohistochemical testing of MMR and genetic testing for LS should be performed. A definite diagnosis of LS has important clinical significance for individuals and family members, and risk screening and preventive measures can minimize the overall risk of developing LS-related cancers.

Entities:  

Keywords:  endometrial cancer; hereditary disease; lynch syndrome

Mesh:

Year:  2022        PMID: 36073228      PMCID: PMC9458521          DOI: 10.12122/j.issn.1673-4254.2022.08.21

Source DB:  PubMed          Journal:  Nan Fang Yi Ke Da Xue Xue Bao        ISSN: 1673-4254


  9 in total

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Authors:  Sapna Syngal; Randall E Brand; James M Church; Francis M Giardiello; Heather L Hampel; Randall W Burt
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2.  Detection of DNA mismatch repair (MMR) deficiencies by immunohistochemistry can effectively diagnose the microsatellite instability (MSI) phenotype in endometrial carcinomas.

Authors:  M K McConechy; A Talhouk; H H Li-Chang; S Leung; D G Huntsman; C B Gilks; J N McAlpine
Journal:  Gynecol Oncol       Date:  2015-01-28       Impact factor: 5.482

Review 3.  Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer.

Authors:  Francis M Giardiello; John I Allen; Jennifer E Axilbund; C Richard Boland; Carol A Burke; Randall W Burt; James M Church; Jason A Dominitz; David A Johnson; Tonya Kaltenbach; Theodore R Levin; David A Lieberman; Douglas J Robertson; Sapna Syngal; Douglas K Rex
Journal:  Gastroenterology       Date:  2014-08       Impact factor: 22.682

Review 4.  Milestones of Lynch syndrome: 1895-2015.

Authors:  Henry T Lynch; Carrie L Snyder; Trudy G Shaw; Christopher D Heinen; Megan P Hitchins
Journal:  Nat Rev Cancer       Date:  2015-02-12       Impact factor: 60.716

5.  NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.

Authors:  Jennifer M Weiss; Samir Gupta; Carol A Burke; Lisen Axell; Lee-May Chen; Daniel C Chung; Katherine M Clayback; Susan Dallas; Seth Felder; Olumide Gbolahan; Francis M Giardiello; William Grady; Michael J Hall; Heather Hampel; Rachel Hodan; Gregory Idos; Priyanka Kanth; Bryson Katona; Laura Lamps; Xavier Llor; Patrick M Lynch; Arnold J Markowitz; Sara Pirzadeh-Miller; Niloy Jewel Samadder; David Shibata; Benjamin J Swanson; Brittany M Szymaniak; Georgia L Wiesner; Andrew Wolf; Matthew B Yurgelun; Mae Zakhour; Susan D Darlow; Mary A Dwyer; Mallory Campbell
Journal:  J Natl Compr Canc Netw       Date:  2021-10-15       Impact factor: 11.908

Review 6.  A Practical Approach to the Evaluation of Gastrointestinal Tract Carcinomas for Lynch Syndrome.

Authors:  Rish K Pai; Reetesh K Pai
Journal:  Am J Surg Pathol       Date:  2016-04       Impact factor: 6.394

Review 7.  Hereditary breast and ovarian cancer susceptibility genes (review).

Authors:  Hiroshi Kobayashi; Sumire Ohno; Yoshikazu Sasaki; Miyuki Matsuura
Journal:  Oncol Rep       Date:  2013-06-19       Impact factor: 3.906

8.  Structure of the human MutSalpha DNA lesion recognition complex.

Authors:  Joshua J Warren; Timothy J Pohlhaus; Anita Changela; Ravi R Iyer; Paul L Modrich; Lorena S Beese
Journal:  Mol Cell       Date:  2007-05-25       Impact factor: 17.970

Review 9.  Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

Authors:  Päivi Peltomäki; Hans Vasen
Journal:  Dis Markers       Date:  2004       Impact factor: 3.434

  9 in total

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