Biallelic Mismatch Repair Deficiency in an Adolescent Female
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....
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/8657823 |
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| _version_ | 1849306859284987904 |
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| author | Amber Hildreth Mark A. Valasek Irene Thung Thomas Savides Mamata Sivagnanam Sonia Ramamoorthy Sherry Huang |
| author_facet | Amber Hildreth Mark A. Valasek Irene Thung Thomas Savides Mamata Sivagnanam Sonia Ramamoorthy Sherry Huang |
| author_sort | Amber Hildreth |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-1ee321ef18f14e52b7ab6ed51d06fbf9 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-1ee321ef18f14e52b7ab6ed51d06fbf92025-08-20T03:54:57ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/86578238657823Biallelic Mismatch Repair Deficiency in an Adolescent FemaleAmber Hildreth0Mark A. Valasek1Irene Thung2Thomas Savides3Mamata Sivagnanam4Sonia Ramamoorthy5Sherry Huang6University of California San Diego Department of Pediatrics, Division of Gastroenterology, USAUniversity of California San Diego Department of Pathology, USAUniversity of California San Diego Department of Pathology, USAUniversity of California San Diego Department of Medicine, Division of Gastroenterology, USAUniversity of California San Diego Department of Pediatrics, Division of Gastroenterology, USAUniversity of California San Diego Department of Surgery, Division of Colorectal Surgery, USAUniversity of California San Diego Department of Pediatrics, Division of Gastroenterology, USAConstitutional (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.http://dx.doi.org/10.1155/2018/8657823 |
| spellingShingle | Amber Hildreth Mark A. Valasek Irene Thung Thomas Savides Mamata Sivagnanam Sonia Ramamoorthy Sherry Huang Biallelic Mismatch Repair Deficiency in an Adolescent Female Case Reports in Genetics |
| title | Biallelic Mismatch Repair Deficiency in an Adolescent Female |
| title_full | Biallelic Mismatch Repair Deficiency in an Adolescent Female |
| title_fullStr | Biallelic Mismatch Repair Deficiency in an Adolescent Female |
| title_full_unstemmed | Biallelic Mismatch Repair Deficiency in an Adolescent Female |
| title_short | Biallelic Mismatch Repair Deficiency in an Adolescent Female |
| title_sort | biallelic mismatch repair deficiency in an adolescent female |
| url | http://dx.doi.org/10.1155/2018/8657823 |
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