Constitutional mismatch repair deficiency syndrome: Do we know it.
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Date
2014-04
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Abstract
Constitutional mismatch repair deficiency syndrome is a
rare autosomal recessive syndrome caused by homozygous
mutations in mismatch repair genes. This is characterized
by the childhood onset of brain tumors, colorectal cancers,
cutaneous manifestations of neurofibromatosis‑1 like café
au lait spots, hematological malignancies, and occasionally
other rare malignancies. Here, we would like to present a
family in which the sibling had glioblastoma, and the present
case had acute lymphoblastic lymphoma and colorectal
cancer. We would like to present this case because of its
rarity and would add to literature.
Description
Keywords
Constitutional mismatch repair deficiency, hereditary nonpolyposis colorectal cancer, Lynch syndrome, mismatch repair genes
Citation
Ramachandra C, Challa Vasu Reddy, Shetty Rachan. Constitutional mismatch repair deficiency syndrome: Do we know it. Indian Journal of Human Genetics. 2014 Apr-Jun ; 20 (2): 192-194.