Inherited polyposis and early onset colorectal cancer - germline testing

Gene: PMS2

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.

Created: 31 Jul 2019, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.

Panel Version: 0.48

Green List (high evidence)

Publications

• 29661970

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Green List (high evidence)

Tumor Suppressor. Biallelic phenotype.

Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lynch Syndrome; CMMRD

Comment when marking as ready: Current diagnostic. BUT beware pseudogene - all variants must be confirmed by an expert lab to ensure they are present in the correct gene.

Created: 7 Feb 2016, 9:28 p.m.

Green List (high evidence)

http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=PMS2
Biallelic mutations cause Constitutional Mismatch Repair Disorder (CMMR-D)

Created: 8 Dec 2015, 2:26 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Publications

• Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115
• doi:10.1038/ng.2854.