scholarly journals Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred

2011 ◽  
Vol 59 (4) ◽  
pp. 652-656 ◽  
Author(s):  
Carol A. Durno ◽  
Melyssa Aronson ◽  
Uri Tabori ◽  
David Malkin ◽  
Steven Gallinger ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

scholarly journals Oncologic surveillance for subjects with biallelic mismatch repair gene mutations-10 year follow-up in a kindred

2011 ◽  
Vol 9 (Suppl 1) ◽  
pp. P11 ◽  
Author(s):  
Carol A Durno ◽  
Melyssa Aronson ◽  
Uri Tabori ◽  
David Malkin ◽  
Helen Chan ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

scholarly journals Mismatch Repair Gene Mutations in Renal Cell Carcinoma

2002 ◽  
Vol 1 (5) ◽  
pp. 530-536 ◽  
Author(s):  
Fredrick S. Leach ◽  
Moon S. Koh ◽  
Kirti Sharma ◽  
Glenn McWilliams ◽  
LaTonia Talifero-Smith ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Mismatch Repair ◽  
Renal Cell ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

scholarly journals Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome

2017 ◽  
Vol 212-213 ◽  
pp. 1-7 ◽  
Author(s):  
Annette Y. Sunga ◽  
Charité Ricker ◽  
Carin R. Espenschied ◽  
Danielle Castillo ◽  
Marilena Melas ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Clinical Presentation ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

Genetic profiles of hereditary nonpolyposis colorectal cancer.

2011 ◽  
Vol 29 (4_suppl) ◽  
pp. 469-469
Author(s):  
C. Therklidsen ◽  
G. Jonsson ◽  
I. Bernstein ◽  
M. Nilbert
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Gene Mutations ◽  
Comparative Genomic ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Hereditary Nonpolyposis ◽  
Gains And Losses ◽  
Mismatch Repair Gene Mutations

469 Background: With the aim to identify genetic markers of hereditary nonpolyposis colorectal cancer (HNPCC), we applied tiling BAC array-based comparative genomic hybridization (aCGH) to 46 HNPCC-associated colorectal cancer. Methods: 32 k iling BAC arrays were used to generate high-density genomic profiles. Tumors were selected through a case-control design with half of the tumors derived from individuals with disease-predisposing mismatch repair gene mutations and the reminder from phenotypic HNPCC families without identified mutations. In addition, an equal number of sporadic tumors were used for comparison. Results: Tumors with disease-predisposing germline mutations showed frequent gains of chromosomes 1p (39%), 17 (43%), 19 (57%) and 22q (30%). HNPCC associated tumors without mutations did as a group have more complex alterations with the most frequent changes being gains of 20q (70%), 19 (35%), 17 (26%) and loss of 18 (39%). Gains of 1p and 20q and loss of chromosome 18 were identified as significant discriminators between HNPCC tumors with/without germline MMR gene mutations. Conclusions: The aCGH profiles of HNPCC-associated colorectal cancer suggest that specific gains and losses may be used to distinguish between tumors with/without germline mismatch repair gene mutations. No significant financial relationships to disclose.

Sign in / Sign up

Export Citation Format

Share Document