All individuals with variants in gene PMS2

847 entries on 9 pages. Showing entries 1 - 100.
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Reference     

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Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00002043 - - - - 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 - - - cancer, gastric - 1 1 Elke Holinski-Feder
00002044 InSiGHT Variant Interpretation Committee April 2016 - - - index with BC, no CRC known in MGZ 95242 (MammaCa triple-negative 49 y). - - - cancer, breast - 1 1 Elke Holinski-Feder
00002045 InSiGHT Variant Interpretation Committee April 2016 - - - suspect of hered. Mamma- and Ovarial Ca, eventually somatic BRCA-Mutations detected? MammaCa 37 y - family history not informative. - cancer, breast - 1 1 Elke Holinski-Feder
00002046 InSiGHT Variant Interpretation Committee April 2016 - - - MammaCa ED 55 y, paternal aunt and grandmother both BrCa, Tu block requested for IHC - - - cancer, breast - 1 1 Elke Holinski-Feder
00003657 - M Germany - - - no tumors reported in family, healthy mother - CRC 39 y metachronous colon Ca, 47 y jejunum Ca 1 1 Elke Holinski-Feder
00003716 - - Brazil - - - - - Lynch Syndrome - 1 1 BARBARA LUISA SOARES
00003717 Haraldsdottir et al. Accepted into Nature Communications F Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of rectum 1 1 Sigurdis Haraldsdottir
00003718 Haraldsdottir et al. Accepted into Nature Communications F Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00003719 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00003720 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda neg, Ams neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00003721 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam+ CRC diagnosed 2000-2009 CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00003722 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda neg, Ams neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of sigmoid colon 1 1 Sigurdis Haraldsdottir
00003723 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam+ CRC diagnosed 2000-2009 CRC Malignant neoplasm of sigmoid colon 1 1 Sigurdis Haraldsdottir
00003724 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of caecum 1 1 Sigurdis Haraldsdottir
00003725 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of rectum 1 1 Sigurdis Haraldsdottir
00003726 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00003727 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda neg, Ams neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of caecum 1 1 Sigurdis Haraldsdottir
00003728 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of descending colon 1 1 Sigurdis Haraldsdottir
00003742 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda neg, Ams neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of caecum 1 1 Sigurdis Haraldsdottir
00003743 Haraldsdottir et al. Accepted into Nature Communications M Iceland - - - Bethesda+, Amsterdam neg CRC diagnosed 2000-2009 CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00003745 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - Variant found in population - 3 individuals with variant and cancer had tumor testing CRC CRC 1 1 Sigurdis Haraldsdottir
00003746 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC 1 1 Sigurdis Haraldsdottir
00003747 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC 1 1 Sigurdis Haraldsdottir
00003762 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (1) MLH1-hm (1) 1 1 Sigurdis Haraldsdottir
00003763 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (17), MLH1-hm (1), PMS2 fs (1) 1 1 Sigurdis Haraldsdottir
00003764 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: None 1 1 Sigurdis Haraldsdottir
00003765 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: None 1 1 Sigurdis Haraldsdottir
00003766 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (1) 1 1 Sigurdis Haraldsdottir
00003767 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (5), MLH1-hm (1) 1 1 Sigurdis Haraldsdottir
00003768 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: None 1 1 Sigurdis Haraldsdottir
00003769 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (6) MLH1-hm (1) 1 1 Sigurdis Haraldsdottir
00003770 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (3) 1 1 Sigurdis Haraldsdottir
00003772 none F unknown Caucasian PMS2 deficient endometrial cancer - - - cancer, endometrial - 1 17 Sean Young
00003895 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003896 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003897 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003898 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003899 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003900 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003901 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003902 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003903 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003904 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003905 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003906 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003907 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003908 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003909 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003910 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003911 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003915 - F USA - - - The variant was found in an unaffected 19 year old. Her father had over 20 adenomas and 3 primary colon cancer at age 26 and then lymphoma and a glioblastoma at age 34. He is deceased. He was negative for APC mutations. His parents were first cousins to each other. We suspected he might have had CMMRD. We were able to test archived DNA from the deceased patient-and he carries two copies of the PMS2 VUS (c.114+3A>T). - Healthy/Control - 1 1 John Paul Plazzer
00003932 - - - Colombia Clinica del Country, Bogota, Colombia - - - Lynch Syndrome - 1 1 Dominguez-Valentin M
00016295 Hendriks et al, 2006 F NL - InSiGHT LOVDv2 ID:5110; - - - cancer, endometrial - 2 1 Carli Tops
00016308 - M NL - InSiGHT LOVDv2 ID:5811; - - - CRC cancer, colon 1 1 Carli Tops
00016310 Hendriks,Y. et al, 2003 ? NL - InSiGHT LOVDv2 ID:5813; - - Colorectal symptoms CRC cancer, colon 1 1 Carli Tops
00016365 - M NL - InSiGHT LOVDv2 ID:10238; - - Colorectal symptoms CRC cancer, colon 1 1 Carli Tops
00016739 - ? DE - InSiGHT LOVDv2 ID:11440; - - - CRC cancer, colon 3 1 Prof. Dr. med. Peter Propping
00021993 - ? - - InSiGHT LOVDv2 ID:1008480; - - - ? - 1 1 Rodney Scott
00022012 - M NL - InSiGHT LOVDv2 ID:1011006; - - Colorectal symptoms CRC cancer, colon 1 1 Carli Tops
00022049 - F (NL) - germline PMS2 c.736_741del6ins11 and MLH1 c.2146G>A (p.Val716Met);InSiGHT LOVDv2 ID:1012869; - - - cancer, endometrial endometrial, 53y 1 1 Carli Tops
00022062 - - - - InSiGHT LOVDv2 ID:1012967; - - - ? - 1 1 Mark Jenkins
00022593 - - - - InSiGHT LOVDv2 ID:1016531; - - - ? - 1 1 InSiGHT group
00022708 - M - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016824; - AMS- - CRC adenocarc coecum 1 1 InSiGHT group
00022718 - F - - InSiGHT LOVDv2 ID:1016834; - - - ? - 1 1 InSiGHT group
00027808 - ? - - InSiGHT LOVDv2 ID:1017093; - - - ? - 1 1 InSiGHT group
00027809 - ? - - InSiGHT LOVDv2 ID:1017094; - - - ? - 1 1 InSiGHT group
00027810 - ? - - InSiGHT LOVDv2 ID:1017096; - - - ? - 1 1 InSiGHT group
00027811 - ? - - InSiGHT LOVDv2 ID:1017095; - - - ? - 1 1 InSiGHT group
00027812 - ? - - InSiGHT LOVDv2 ID:1017097; - - - ? - 1 1 InSiGHT group
00027813 - ? - - InSiGHT LOVDv2 ID:1017098; - - - ? - 1 1 InSiGHT group
00027814 - ? - - InSiGHT LOVDv2 ID:1017099; - - - ? - 1 1 InSiGHT group
00027815 - ? - - InSiGHT LOVDv2 ID:1017100; - - - ? - 1 1 InSiGHT group
00027816 - ? - - InSiGHT LOVDv2 ID:1017101; - - - ? - 1 1 InSiGHT group
00027817 - ? - - InSiGHT LOVDv2 ID:1017102; - - - ? - 1 1 InSiGHT group
00027818 - ? - - InSiGHT LOVDv2 ID:1017103; - - - ? - 1 1 InSiGHT group
00027819 - ? - - InSiGHT LOVDv2 ID:1017104; - - - ? - 1 1 InSiGHT group
00027820 - ? - - InSiGHT LOVDv2 ID:1017105; - - - ? - 1 1 InSiGHT group
00027821 - ? - - InSiGHT LOVDv2 ID:1017106; - - - ? - 1 1 InSiGHT group
00027822 - ? - - InSiGHT LOVDv2 ID:1017107; - - - ? - 1 1 InSiGHT group
00027823 - ? - - InSiGHT LOVDv2 ID:1017108; - - - ? - 1 1 InSiGHT group
00027824 - ? - - InSiGHT LOVDv2 ID:1017109; - - - ? - 1 1 InSiGHT group
00027825 - ? - - InSiGHT LOVDv2 ID:1017112; - - - ? - 1 1 InSiGHT group
00027826 - ? - - InSiGHT LOVDv2 ID:1017113; - - - ? - 1 1 InSiGHT group
00027827 - ? - - InSiGHT LOVDv2 ID:1017114; - - - ? - 1 1 InSiGHT group
00027828 - ? - - InSiGHT LOVDv2 ID:1017115; - - - ? - 1 1 InSiGHT group
00027829 - ? - - InSiGHT LOVDv2 ID:1017116; - - - ? - 1 1 InSiGHT group
00027830 - ? - - InSiGHT LOVDv2 ID:1017117; - - - ? - 1 1 InSiGHT group
00027831 - ? - - InSiGHT LOVDv2 ID:1017118; - - - ? - 1 1 InSiGHT group
00027832 - ? NL - InSiGHT LOVDv2 ID:4940; - - - CRC - 1 1 Juul Wijnen
00027833 - ? - - InSiGHT LOVDv2 ID:12802; - - - ? - 2 1 Michael Woods
00027834 - ? - - InSiGHT LOVDv2 ID:12812; - - - ? - 1 1 Michael Woods
00027835 - ? - - InSiGHT LOVDv2 ID:12813; - - - ? - 1 1 Michael Woods
00027836 - ? - - InSiGHT LOVDv2 ID:12814; - - - ? - 1 1 Michael Woods
00027837 - F NL - InSiGHT LOVDv2 ID:1011007; - - Colorectal symptoms CRC - 1 1 Carli Tops
00027838 - ? DE - InSiGHT LOVDv2 ID:10856; - - - CRC - 1 1 Prof. Dr. med. Peter Propping
00027839 - ? DE - InSiGHT LOVDv2 ID:12714; - - - Lynch Syndrome - 4 1 Beate Dr. Betz
00027840 - ? - - InSiGHT LOVDv2 ID:12815; - - - ? - 1 1 Michael Woods
00027841 - ? - - InSiGHT LOVDv2 ID:12803; - - - ? - 2 1 Michael Woods
00027842 - ? - - InSiGHT LOVDv2 ID:12804; - - - ? - 2 1 Michael Woods
00027843 - ? - - InSiGHT LOVDv2 ID:12805; - - - ? - 2 1 Michael Woods
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