|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome with MLH1 or MSH2 germline mutation.
|
27928858 |
2017 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.
|
21419771 |
2011 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
Biomarker
|
disease |
BEFREE |
Common genetic variation in PTEN, PIK3CA, AKT1, MLH1, or MSH2 was not statistically significantly associated with endometrial cancer.
|
21093899 |
2011 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
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 |
|
Malignant neoplasm of endometrium
|
0.400 |
Biomarker
|
disease |
BEFREE |
Compared to known tumor markers, namely estrogen and progesterone receptors, histopathological grading, TNM stage and FIGO classification, no significant correlation between MSH2 immunoreactivity and EC was found.
|
20032443 |
2009 |
|
Malignant neoplasm of endometrium
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel MSH2 mutation is described in a Druze HNPCC family: a multigenerational family with 10 members in 4 generations affected with colorectal cancer (mean age of diagnosis 46.5 years), two with gastric cancer and one--endometrial cancer.
|
17661183 |
2008 |
|
Malignant neoplasm of endometrium
|
0.400 |
Biomarker
|
disease |
BEFREE |
A mutational analysis of three DNA mismatch repair (MMR) genes (hMLH1, hMSH2 and hMSH6) in patients with endometrial cancer who meet our criteria for familial predisposition to HNPCC-associated endometrial cancers was performed.
|
18624996 |
2008 |
|
Malignant neoplasm of endometrium
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women with an endometrial cancer, especially if the cancer is detected before the age of 70 years in women with a personal or family history of colorectal cancer.
|
18674656 |
2008 |
|
Malignant neoplasm of endometrium
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The relative risk (RR) of endometrial cancer was 55 in MSH2 mutation families, compared with 27 in MLH1 mutation families, and 37 in MSH6 mutation families; median age at diagnosis 49 years.
|
17939062 |
2008 |
|
Malignant neoplasm of endometrium
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this large study of mismatch repair gene mutation carriers from the United States, MLH1 carriers had more colorectal cancer than MSH2 carriers whereas endometrial cancer prevalence was similar.
|
18708397 |
2008 |
|
Malignant neoplasm of endometrium
|
0.400 |
Biomarker
|
disease |
BEFREE |
Loss of MSH2 and MSH6 was detected in all of the affected clear cell carcinomas and a synchronous endometrial cancer with endometrioid histology.
|
18469706 |
2008 |
|
Malignant neoplasm of endometrium
|
0.400 |
Biomarker
|
disease |
BEFREE |
Using isogenic pairs of MLH1(-)/MLH1(+) human colorectal cancer cells (HCT116) and MSH2(-)/MSH2(+) human endometrial cancer cells (HEC59), we initially measure activation of autophagy for up to 3 days after 6-TG treatment using LC3, a specific marker of autophagy.
|
17317843 |
2007 |