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Title: Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?
Authors: Wong, A 
Ngeow, J 
Keywords: BRCA1 protein
BRCA2 protein
cancer epidemiology
cancer patient
cancer risk
Cowden syndrome
endometrium carcinoma
gene mutation
hereditary nonpolyposis colorectal cancer
laboratory test
meta analysis (topic)
mismatch repair
Muir Torre syndrome
multicenter study (topic)
mutational analysis
ovary carcinoma
polymerase chain reaction
PTEN gene
risk assessment
Colorectal Neoplasms, Hereditary Nonpolyposis
Endometrial Neoplasms
Hamartoma Syndrome, Multiple
Muir-Torre Syndrome
risk assessment
Colorectal Neoplasms, Hereditary Nonpolyposis
DNA Mismatch Repair
Endometrial Neoplasms
Hamartoma Syndrome, Multiple
Muir-Torre Syndrome
Risk Assessment
Issue Date: 2015
Citation: Wong, A, Ngeow, J (2015). Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?. BioMed Research International 2015 : 219012. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
Abstract: Endometrial carcinoma is the most common gynecological tumor worldwide. It can be the presenting malignancy, acting as the harbinger, of an undiagnosed hereditary syndrome. Up to 50% of females with Lynch syndrome present in this manner. Differentiation between Lynch, Muir-Torre, and Cowden syndromes can at times be challenging due to the overlapping features. Our review emphasizes on the strengths, pitfalls, and limitations of microscopic features as well as immunohistochemical and polymerase chain reaction- (PCR-) based tests used by laboratories to screen for DNA mismatch repair (MMR) and PTEN gene mutations in patients to enable a more targeted and cost effective approach in the use of confirmatory gene mutational analysis tests. This is crucial towards initiating timely and appropriate surveillance measures for the patient and affected family members. We also review the evidence postulating on the possible inclusion of uterine serous carcinoma as part of the spectrum of malignancies seen in hereditary breast and ovarian carcinoma syndrome, driven by mutations in BRCA1/2. © 2015 Adele Wong and Joanne Ngeow.
Source Title: BioMed Research International
ISSN: 23146133
DOI: 10.1155/2015/219012
Rights: Attribution 4.0 International
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