|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
No significant differences were observed for dMMR/MSI in relation to MMR variants and location of adenomas.
|
31695176 |
2020 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Incident MMR-deficient CRCs from Australasian Colorectal Cancer Family Registry (ACCFR) and the Melbourne Collaborative Cohort Study participants (n = 144) and 63 adenomas from 41 MMR gene mutation carriers from the ACCFR were screened for somatic mutations within five coding microsatellites of B2M.
|
28616688 |
2018 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
Additionally, we performed multiregional, targeted next-generation sequencing (NGS) of adenomas and unmasked extensive heterogeneity, affecting known drivers such as APC, KRAS and mismatch repair (MMR) genes.
|
30166531 |
2018 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins.
|
28548127 |
2017 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The loss of the MMR proteins, which is indicative of microsatellite instability, was observed in one PGA (3%), 12 foveolar-type adenomas (52%), one intestinal-type adenoma (2%) and five adenocarcinomas (7%).
|
23208952 |
2013 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.
|
18781192 |
2009 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fifteen subjects with a germline MMR gene mutation who had 44 adenomas removed during surveillance colonoscopy were identified.
|
19324997 |
2009 |
|
Adenoma
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We analyzed 120 ampullary adenomas (31 pure adenomas and 89 carcinoma-associated adenomas) and 170 pure adenocarcinomas for MSI, immunohistochemical expression of MMR proteins and specific histopathologic features.
|
19252434 |
2009 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
The expression pattern of mismatch repair (MMR) proteins showed a higher concordance rate with the MSI status in laser-dissected (94%) than gross-dissected (47%) adenomas.
|
15858139 |
2005 |
|
Adenoma
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In conclusion, our study shows that 1) IHC identifies a significant portion of colorectal tumors derived from MMR gene germline mutation carriers and can be used as an adjunct measure in the identification of HNPCC families, but IHC cannot replace MSI testing; 2) adenomas have similar MMR protein expression patterns as carcinomas and may serve as an adequate sample for screening purposes in the identification of patients with MMR mutations; 3) not all IHC-positive cases show uniform positivity throughout the tumor; and 4) weak and focal staining of an MMR protein may be associated with MSI or gene mutation or both, suggesting the need to incorporate staining intensity in further IHC studies.
|
15613860 |
2005 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
The higher frequency of MSI in HNPCC than in sporadic tumours suggests that involvement of MMR genes in sporadic adenomas may be uncommon.Consequently
|
11300317 |
2001 |