Inherited ovarian cancer (without breast cancer)Gene: PMS2
Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Created: 3 Mar 2021, 12:33 p.m. | Last Modified: 3 Mar 2021, 12:33 p.m.
Panel Version: 2.20
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Created: 31 Jul 2019, 12:24 p.m. | Last Modified: 31 Jul 2019, 12:24 p.m.
Panel Version: 1.9
Comment on list classification: This gene is reported as part of pertinent germline findings for the Cancer Programme for patients with ovarian cancer.
Created: 30 May 2017, 11:37 a.m.
Phenotypes for gene: PMS2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Source Expert List was added to PMS2.
31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.
Mode of inheritance for PMS2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
PMS2 was added to Familial ovarian cancerpanel. Sources: Emory Genetics Laboratory
PMS2 was created by ellenmcdonagh