Individual #00187028

ID_report -
Reference -
Remarks 32 y died from gastric cancer, CDH1 normal ; gastric-Ca: MSI-low (1 of 5, D17S250;) IHC predominant loss of PMS2, MLH1, MSH2, MSH6 positive ; second pathology: MSI-high (5 of 10), IHC no clear result obtainable for PMS2 expression
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, gastric
Owner name Elke Holinski-Feder


Stop! No phenotypes found for this individual!



Screenings


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Owner     
0000187997 DNA ? - - PMS2 1 Elke Holinski-Feder



Variants

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7 Unknown ?/. g.6022536A>C - - - PMS2_000369 NGS: in FFPE Tumor and normal tissue: PMS2 p.Val698Gly in Normal tissue (50:50) AND in Tumor (contaminated with with tissue) ca. 61% mutierted Allele, -> LOH of WT-Alle?! p.Val698Gly in highly kons ÔÇ£MutL dimerisationÔÇØ Domain. Variant in adjacent Aminoacid (p.Asp699His) is pathogenic, in homoz. State for CMMR-D described (13 y old Patient, Glioblastoma, Burkitt-Lymphom, Cafe au lait, CRC, parents heterozygote carriers, 3 heterozygous siblings, Walter ; Pediatr Blood Cancer 2013; 60:E135-136) - - - Germline - - - 0 - Elke Holinski-Feder PMS2 - - - - - 12 NM_000535.5:c.2093T>G - VUS r.(?) p.(Val698Gly) - - - - - - - - - - - - - - - - - - -
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