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Biallelic Mismatch Repair Deficiency in an Adolescent Female
Joint Authors
Valasek, Mark A.
Hildreth, Amber
Thung, Irene
Savides, Thomas
Ramamoorthy, Sonia
Huang, Sherry C.
Sivagnanam, Mamata
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-07-25
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Biallelic germline variants in one of four mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) cause this devastating disease.
Given the rarity of the syndrome, often-asymptomatic tumors, and overlap with neurofibromatosis-1, diagnosis is frequently unrecognized or delayed.
We present a unique case of a 14-year-old female with minimal gastrointestinal symptoms diagnosed with invasive adenocarcinoma secondary to biallelic PMS2 variants.
American Psychological Association (APA)
Hildreth, Amber& Valasek, Mark A.& Thung, Irene& Savides, Thomas& Sivagnanam, Mamata& Ramamoorthy, Sonia…[et al.]. 2018. Biallelic Mismatch Repair Deficiency in an Adolescent Female. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143351
Modern Language Association (MLA)
Hildreth, Amber…[et al.]. Biallelic Mismatch Repair Deficiency in an Adolescent Female. Case Reports in Genetics No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1143351
American Medical Association (AMA)
Hildreth, Amber& Valasek, Mark A.& Thung, Irene& Savides, Thomas& Sivagnanam, Mamata& Ramamoorthy, Sonia…[et al.]. Biallelic Mismatch Repair Deficiency in an Adolescent Female. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143351
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143351