Premium
POLE mutations as an alternative pathway for microsatellite instability in endometrial cancer: Implications for L ynch syndrome testing
Author(s) -
Konstantinopoulos Panagiotis A.,
Matulonis Ursula A.
Publication year - 2015
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/cncr.29057
Subject(s) - endometrial cancer , microsatellite instability , cancer , exonuclease , cancer research , lynch syndrome , mutation , germline mutation , medicine , somatic cell , dna mismatch repair , microsatellite , gene , genetics , polymerase , biology , dna repair , allele
In endometrial cancer, the presence of polymerase ɛ ( POLE ) exonuclease domain mutations in immunohistochemically abnormal/microsatellite unstable/mutL homolog1‐unmethylated tumors may serve as a marker of somatic origin. These mutations may be important in making determinations and recommendations for mismatch repair gene mutation testing in women with endometrial cancer.