Endometrial Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry (IHC) for DNA mismatch repair proteins MLH1, PMS2, MSH2, and MSH6 is used for microsatellite instability (MSI) screening in colorectal carcinoma (CRC) and endometrial carcinoma (EC).
|
31402167 |
2020 |
Endometrial Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum.
|
30161022 |
2018 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among MSI tumors, LS-related and sporadic ECs exhibited similar mutational profiles, with MSH2 as the most commonly mutated gene.
|
30420047 |
2018 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome with MLH1 or MSH2 germline mutation.
|
27928858 |
2017 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MSH6 were less prevalent, and MSH6 mutation carriers presented with colorectal and endometrial cancer at later ages than carriers of mutations in MSH2 or MLH1.
|
28772289 |
2017 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2.
|
28514183 |
2017 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DREMECELS was designed considering the malignancies with frequent alterations in DNA repair pathways, that is, colorectal and endometrial cancers, associated with Lynch syndrome (also known as HNPCC).
|
27276067 |
2016 |
Endometrial Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Endometrial cancer of the proband was investigated for microsatellite instability (MSI) and immunohistochemical expression of MLH1, MSH2 and MSH6 proteins.
|
23695190 |
2014 |
Endometrial Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we investigated the frequency of BAF250a immunohistochemical loss in a cohort of high-grade endometrial cancers (n=190) and correlated it with mismatch repair (hMLH1, hMSH2, hMSH6, and hPMS2) and p53 protein expression.
|
23887303 |
2014 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The risk of endometrial cancer in the entire group of EPCAM deletion carriers is significantly lower than that in MSH2 mutation carriers, but the actual risk appears to be dependent on the size and location of the EPCAM deletion.
|
23264089 |
2013 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lifetime risk of endometrial cancer in women with MLH1 or MSH2 mutations is approximately 40 %, with a median age of 49.
|
23765559 |
2013 |
Endometrial Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The low-dose radioresponse of MSH2 isogenic endometrial carcinoma cell lines was examined.
|
23376256 |
2013 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our estimates of CRC and EC cumulative risks for MLH1 and MSH2 mutation carriers are the most precise currently available.
|
23255516 |
2013 |
Endometrial Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The fourth patient did not have mutation information but had a history of colonic and endometrial carcinomas; both lacked MSH2 and MSH6 proteins.
|
22516243 |
2012 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the United States, it was recently reported that the prevalence of Lynch syndrome with an hMSH2 mutation in patients with endometrial cancer in the lower uterine segment (LUS) is much greater than that in patients with endometrial cancer, although no such reports have been published in Asia.
|
22940821 |
2012 |
Endometrial Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Common genetic variation in PTEN, PIK3CA, AKT1, MLH1, or MSH2 was not statistically significantly associated with endometrial cancer.
|
21093899 |
2011 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lifetime ovarian and endometrial cancer risks associated with MLH1 or MSH2 mutations were high but do not increase appreciably until after the age of 40 years.
|
21642682 |
2011 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
EPCAM deletion carriers have a high risk of colorectal cancer; only those with deletions extending close to the MSH2 promoter have an increased risk of endometrial cancer.
|
21145788 |
2011 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We estimated the association between BMI at age 18-20 years and endometrial cancer risk for mismatch repair gene mutation carriers and, as a comparison group, noncarriers using 601 female carriers of a germline mutation in a mismatch repair gene (245 MLH1, 299 MSH2, 38 MSH6, and 19 PMS2) and 533 female noncarriers from the Colon Cancer Family Registry using a weighted Cox proportional hazards regression.
|
21422863 |
2011 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2.
|
21769135 |
2011 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.
|
21419771 |
2011 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped for the predominant mutations in Jewish individuals in BRCA1 (185delAG, 5382InsC, Tyr978X) BRCA2 (6174delT), MSH2 (A636P, 324delCA) and MSH6 (c.3984_3987dup).
|
20850175 |
2010 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The hereditary colon and endometrium cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes.
|
20020535 |
2010 |
Endometrial Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
MSH2 immunohistochemical analysis is not of prognostic value for endometrial carcinoma.
|
20032443 |
2009 |
Endometrial Carcinoma
|
0.700 |
GeneticVariation
|
disease |
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 |