Individual #00187021

ID_report -
Reference InSiGHT Variant Interpretation Committee April 2016
Remarks The family's details are as follows:; Proband Dx uterine cancer 57y, IHC loss of MSH6 + MSH2, MSH6 variant identified (attached report); Proband's sister Dx CRC 29y, IHC weak expression of MSH6, MSH6 variant identified; Three other sisters; one has annual cy and has had TAH/BSO (unknown mutation status), one reports having a number of adenomatous polyps removed with one of a larger size (currently chasing confirmation in order to perform IHC and patient has consented to have testing for the variant); Update: One sister has been found to have the MSH6 variant; she has a PHx of multiple polyps. Confirmed she has had at least 4 adenomas and 7 hyperplastic polyps since age 32y. ; Update: One sister has been found to be negative for the variant; she has been having annual colonoscopies and reports a couple of small polyps have been found during this time. We have been able to access her most recent colonoscopy finding a 2mm TA at 55years of age.; Mother Dx CRC 67, IHC loss of MLH1 + PMS2, BRAF wild type, no mutations in MLH1 or PMS2 (sequencing + MLPA), does NOT have MSH6 variant, currently awaiting MLH1 promotor methylation results; Mother has two sisters with CRC (one at 62y, one at 63y); Father reportedly Dx prostate cancer later in life, died at 90y; Paternal grandfather reportedly Dx CRC early 70s; No other known paternal FHx; Strong FHx CRC
Gender -
Consanguinity -
Country Australia
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, endometrial
Owner name InSiGHT - John-Paul Plazzer


Phenotypes

cancer, endometrial (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

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Owner     
0000146909 - - - Unknown - - 57y - MSH2-;MSH6- - - InSiGHT - John-Paul Plazzer



Screenings


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Owner     
0000187990 DNA SEQ-NG - screen data 2015-08-17 MSH2, MSH6 1 InSiGHT - John-Paul Plazzer



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
2 Unknown +?/. g.48027179G>A - - - MSH6_000785 MLPA analysis has not detected a deletion or duplication using the P003-C1 and P072-B1 MLPA kits in MSH2 and MSH6 genes. - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer MSH6 - - - - - 4 NM_000179.2:c.2057G>A - likely pathogenic r.(?) p.(Gly686Asp) - - - - - - - - - - - - - - - - - - -
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