All individuals with variants in gene PMS2

929 entries on 10 pages. Showing entries 1 - 100.
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00036512 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036513 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036514 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036515 - - - - - Germany - - 0 - - ? 44y colon cancer 1 1 Andreas Laner
00036516 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036517 - - - - - Germany - - 0 - - ? suspected familiar tumour disease (bladder, CNS, leukaemia) 1 1 Andreas Laner
00036518 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036519 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036520 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036521 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036522 - - - - - Germany - - 0 - - ? colon cancer; familiar hereditary tumour disease 1 1 Andreas Laner
00036523 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036524 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036525 - - - - - Germany - - 0 - - - - 2 1 Andreas Laner
00036526 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036527 - - - - - Germany - - 0 - - HNPCC suspected HNPCC 1 1 Andreas Laner
00036528 - - - - - Germany - - 0 - - ? CRC, breast cancer at the age of 69,aunt bilateral BC in her sixties, family history positive 1 1 Andreas Laner
00036529 - - - - - Germany - - 0 - - HNPCC suspected HNPCC 1 1 Andreas Laner
00036530 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036531 - - - - - Germany - - 0 - - HNPCC suspected HNPCC 1 1 Andreas Laner
00036532 - - - - - Germany - - 0 - - HNPCC suspected HNPCC, adeno cancer (colon) 1 1 Andreas Laner
00036533 - - - - - Germany - - 0 - - ? suspected familiar intestinal cancer 1 1 Andreas Laner
00036534 - - - - - Germany - - 0 - - HNPCC suspected HNPCC 1 1 Andreas Laner
00036535 - - - - - Germany - - 0 - - HNPCC suspected HNPCC, ablation of 2 adenoma 1 1 Andreas Laner
00036536 - - - - - Germany - - 0 - - HNPCC suspected HNPCC syndrome 1 1 Andreas Laner
00037590 - - adenocarcinoma colon and caecum 4x CRC in family (incl 2 in index), 3 confirmed PMS2-def (incl 2 in index), MSI-high M - Netherlands - - 0 - - CRC - 1 1 Arjen Mensenkamp
00052040 - - CRC aged 46 in proband. No additional family testing that we're aware of. - - - - - 0 - - HNPCC-1 (Lynch) - 1 1 Ian Berry
00052042 - - CRC aged 17 and again at 24; histological profile consistent with CMMRD. Patient heterozygous for c.137G>T (class 4) and ex11-12 duplication. Phase could not be confirmed in parents. - - - - - 0 - - HNPCC-1 (Lynch) - 1 1 Ian Berry
00052043 - - Patient had CRC @48yo. Father had CRC @58yo, isolated PMS2 loss on tumour. Duplication could not be tested as deceased. - - - - - 0 - - HNPCC-1 (Lynch) - 1 1 Ian Berry
00080768 - - - - - Germany - - 0 - - HNPCC-4 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00155594 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 4 1 Angela Solano & F Cardoso
00155598 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 4 1 Angela Solano & F Cardoso
00155608 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 5 1 Angela Solano & F Cardoso
00155609 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 9 1 Angela Solano & F Cardoso
00155612 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 8 1 Angela Solano & F Cardoso
00155613 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 6 1 Angela Solano & F Cardoso
00155616 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 3 1 Angela Solano & F Cardoso
00155619 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 3 1 Angela Solano & F Cardoso
00155627 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 8 1 Angela Solano & F Cardoso
00155628 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 5 1 Angela Solano & F Cardoso
00155635 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 3 1 Angela Solano & F Cardoso
00155641 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 7 1 Angela Solano & F Cardoso
00155652 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 1 1 Angela Solano & F Cardoso
00155654 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 7 1 Angela Solano & F Cardoso
00155660 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 2 1 Angela Solano & F Cardoso
00155667 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 7 1 Angela Solano & F Cardoso
00155668 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 5 1 Angela Solano & F Cardoso
00155669 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 3 1 Angela Solano & F Cardoso
00155674 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 8 1 Angela Solano & F Cardoso
00155675 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 1 1 Angela Solano & F Cardoso
00155679 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 3 1 Angela Solano & F Cardoso
00155680 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 8 1 Angela Solano & F Cardoso
00155689 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 5 1 Angela Solano & F Cardoso
00155695 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 3 1 Angela Solano & F Cardoso
00155698 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 3 1 Angela Solano & F Cardoso
00155704 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 4 1 Angela Solano & F Cardoso
00155707 - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - ? - 5 1 Angela Solano & F Cardoso
00173822 129643 - Adeno-Ca at age 40y (pT3, N0, M0), isolated loss of PMS2 in tumor M ? Germany - - 0 - - CRC CRC colon ascendens (pT3, N0, M0); isolated loss of PMS2 in tumor 1 1 Andreas Laner
00187028 - - 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 - - - - - 0 - - cancer, gastric - 1 1 Elke Holinski-Feder
00187029 - InSiGHT Variant Interpretation Committee April 2016 index with BC, no CRC known in MGZ 95242 (MammaCa triple-negative 49 y). - - - - - 0 - - cancer, breast - 1 1 Elke Holinski-Feder
00187030 - 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. - - - - - 0 - - cancer, breast - 1 1 Elke Holinski-Feder
00187031 - InSiGHT Variant Interpretation Committee April 2016 MammaCa ED 55 y, paternal aunt and grandmother both BrCa, Tu block requested for IHC - - - - - 0 - - cancer, breast - 1 1 Elke Holinski-Feder
00188556 - - no tumors reported in family, healthy mother M - Germany - - 0 - - CRC 39 y metachronous colon Ca, 47 y jejunum Ca 1 1 Elke Holinski-Feder
00188574 - - - - - Brazil - - 0 - - HNPCC - 1 1 Courtney Forgeng
00188575 - PubMed: Haraldsdottir 2018 - F - Iceland - - 0 - - CRC Malignant neoplasm of rectum 1 1 Sigurdis Haraldsdottir
00188576 - PubMed: Haraldsdottir 2018 - F - Iceland - - 0 - - CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00188577 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00188578 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00188579 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00188580 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of sigmoid colon; BRAF V600E negative 1 1 Sigurdis Haraldsdottir
00188581 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of sigmoid colon 1 1 Sigurdis Haraldsdottir
00188582 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of caecum 1 1 Sigurdis Haraldsdottir
00188583 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of rectum; BRAF V600E negative 1 1 Sigurdis Haraldsdottir
00188584 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of ascending colon 1 1 Sigurdis Haraldsdottir
00188585 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of caecum 1 1 Sigurdis Haraldsdottir
00188586 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of descending colon 1 1 Sigurdis Haraldsdottir
00188600 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of caecum 1 1 Sigurdis Haraldsdottir
00188601 - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - CRC Malignant neoplasm of ascending colon; 2nd hit found on tumor Coloseq, PMS2 likely LOH 1 1 Sigurdis Haraldsdottir
00188603 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - CRC CRC 1 1 Sigurdis Haraldsdottir
00188604 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - CRC CRC; 2nd hit found on tumor Coloseq, PMS2 LOH 1 1 Sigurdis Haraldsdottir
00188605 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - CRC CRC; 2nd hit found on tumor Coloseq, PMS2 c.564_583dup (p.S195Yfs*13) 1 1 Sigurdis Haraldsdottir
00188620 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188621 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188622 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188623 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188624 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188625 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188626 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188627 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188628 - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 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
00188630 - none PMS2 deficient endometrial cancer F - - white - 0 - - cancer, endometrial - 1 17 Sean Young
00188752 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188753 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188754 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188755 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188756 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188757 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188758 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188759 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
00188760 - - Submitted by ICCON South Australia - - Australia - - 0 - - ? - 1 1 ICCon
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