GENETIC ASSESSMENTTESTING PATHWAYS ENDOMETRIAL CANCER SOUTH WEST THAMES

GENETIC ASSESSMENT/TESTING PATHWAYS: ENDOMETRIAL CANCER SOUTH WEST THAMES REGIONAL GENETICS SERVICE Patient with confirmed endometrial cancer with histology available Complete family history screening questionnaire High grade serous Adenocarcinoma Other histopathological subtypes Refer to clinical genetics IHC pathway Refer to clinical genetics if concerned about personal or family history only Patient with endometrial cancer and: • Answers “yes” to any questions on family history screening questionnaire • Unable to establish if patient meets testing criteria • Children (<18 years) • Patient is unsure about testing or needs further discussion Immunohistochemistry (IHC) pathway: • Pathology will undertake reflex mismatch repair immunohistochemistry (MMRIHC) analysis • If loss / abnormal staining of MLH 1/PMS 2, pathology will send reflex MLH 1 promotor hypermethylation testing directly to lab • If loss / abnormal staining of MSH 2/MSH 6, clinical treating team to refer to Genetics • If loss / abnormal staining of isolated PMS 2, clinical treating team to refer to Genetics • If loss / abnormal staining of MLH 1/PMS 2 AND absent MLH 1 promotor hypermethylation, clinical treating team to refer to Genetics Refer to Clinical Genetics Send patient details, result and histology report to cancergenetics. stg@nhs. net EC Protocol v 1 180521