Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue

AY Shuen, S Lanni, GB Panigrahi… - Journal of Clinical …, 2019 - ascopubs.org
Purpose Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …

Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue

AY Shuen, S Lanni… - Journal of …, 2019 - utsouthwestern.elsevierpure.com
PURPOSE Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …

Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue

AY Shuen, S Lanni, GB Panigrahi… - Journal of Clinical …, 2019 - scholars.northwestern.edu
PURPOSE Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue

AY Shuen, S Lanni, GB Panigrahi, M Edwards… - Journal of Clinical …, 2019 - cir.nii.ac.jp
抄録< jats: sec>< jats: title> Purpose</jats: title>< jats: p> Constitutional mismatch repair
deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by …

Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue

AY Shuen, S Lanni, GB Panigrah… - Journal of Clinical …, 2019 - ecommons.aku.edu
Purpose: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue

AY Shuen, S Lanni, GB Panigrahi… - Journal of clinical …, 2019 - pubmed.ncbi.nlm.nih.gov
Purpose Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …

Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue

AY Shuen, S Lanni, GB Panigrahi… - Journal of Clinical …, 2019 - research.monash.edu
PURPOSE Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …

Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue

AY Shuen, S Lanni, GB Panigrahi… - Journal of Clinical …, 2019 - scholars.aku.edu
PURPOSE Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …

[PDF][PDF] Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue

AY Shuen, S Lanni, GB Panigrahi… - Journal of Clinical …, 2019 - drive.google.com
RESULTS All CMMRD cell lines had low MMR activity (n= 20; mean, 4.14 6 1.56%) relative
to controls (n= 6; mean, 44.00 6 8.65%; P,. 001). Repair was restored by complementation …

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

AY Shuen, S Lanni, GB Panigrahi… - Journal of clinical …, 2019 - dial.uclouvain.be
PURPOSE: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer
predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As …