L Walsh
University of Washington
EpidemiologyInternal medicineOncologyLynch syndromeAnticipation (genetics)MSH2Human geneticsColorectal cancerDNA mismatch repairMedicineGenetic counseling
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#1Inbal Kedar (Rabin Medical Center)H-Index: 8
#2L Walsh (UW: University of Washington)
Last. Yael Goldberg (Rabin Medical Center)H-Index: 17
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Lynch syndrome is an inherited cancer predisposition syndrome caused by germline defects in any of the mismatch repair (MMR) genes. Diagnosis of carriers makes precision prevention, early detection, and tailored treatment possible. Herein we report a novel founder deletion of 18,758 bp, mediated by Alu repeats on both sides, detected in Ethiopian Jews. The deletion, which encompasses exon 9-10 of the MSH2 coding sequence, is associated mainly with early-onset MSH2/MSH6-deficient colorectal cance...
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