All individuals with variants in gene POLE

83 entries on 1 page. Showing entries 1 - 83.
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00000355 - PubMed: Palles 2013 - - no United Kingdom (Great Britain) Northern European - - - - CRC Multiple colorectal adenomas Colorectal Carcinoma Endometrial carcinoma 1 1 Ian Tomlinson
00000360 - PubMed: Palles 2013 - - no United Kingdom (Great Britain) Northern European - - - - CRC Colorectal carcinoma 1 1 Ian Tomlinson
00016595 - - L424V, germline, F no United Kingdom (Great Britain) Northern European - - Yes - CRC - 1 1 Ian Tomlinson
00019773 - PubMed: Elsayed 2015, Journal: Elsayed 2015 - F ? Netherlands - - - - - CRC 40y-MSI caecum tumour, two adenomas, developed cumulatively ~30 polyps; 50y microsatellite stable endometrial cancer 1 1 Tom van Wezel
00019821 - PubMed: Elsayed 2015, Journal: Elsayed 2015 - M - Netherlands - - - - - CRC, NF1 30y MSI caecum adenocarcinoma; 15y astrocytoma, presumably as a consequence of neurofibromatosis 1 1 Tom van Wezel
00019822 - PubMed: Elsayed 2015, Journal: Elsayed 2015 - M - Netherlands - - - - - CRC - 1 1 Tom van Wezel
00019824 - PubMed: Elsayed 2015, Journal: Elsayed 2015 - - - Netherlands - - - - - CRC - 1 1 Tom van Wezel
00020263 - - - - - Norway - - - - - CRCS12 Bilateral ovary cancer 40 years of age Colorectal cancer 48 years of age Multiple adenomas in the colon 1 1 Maren Fridtjofsen Hansen
00020264 - - - - - Norway - - - - - CRCS12 Multiple adenomas in the colon 1 1 Maren Fridtjofsen Hansen
00020265 - - - - - Norway - - - - - CRCS12 Colorectal cancer 43 years of age Multiple adenomas 1 1 Maren Fridtjofsen Hansen
00020441 - - - - - Norway - - - - - CRCS12 Colorectal cancer at 42 years of age Small intestine cancer 54 and 57 years of age Multiple adenomas in colon small intestine and stomach 1 1 Maren Fridtjofsen Hansen
00020442 - - - - - Norway - - - - - CRCS12 Colorectal cancer 38 years of age. 1 1 Maren Fridtjofsen Hansen
00020443 - - - - - Norway - - - - - CRCS12 A single adenoma (not performed colonoscopy for 8 years on date of submission) 1 1 Maren Fridtjofsen Hansen
00021380 - - - - - Norway - - - - - CRCS12 Multiple colorectal adenomas 1 1 Maren Fridtjofsen Hansen
00022287 - - - - - Norway - - - - - CRCS12 Multiple colorectal adenomas 1 1 Maren Fridtjofsen Hansen
00022289 - - - - - Norway - - - - - CRCS12 Colorectal adenomas 1 1 Maren Fridtjofsen Hansen
00048032 - PubMed: Jansen 2015, Journal: Jansen 2015 - - - Netherlands - - - - - CRC - 1 1 Anne Jansen
00164998 - - - - - - - - - - - CRC - 1 1 Jessada Thutkawkorapin
00183085 - - - - - - - - - - - CRCS12 Ovarian carcinoma Colorectal adenomas (35) Colonic adenocarcinoma (grade 2 with focal mucinous differentiation) Breast carcinoma (triple negative high grade ductal carcinoma) 1 1 Joan Brunet
00228151 - - - F no New Zealand white 63y - - - CRCS12 Colorectal polyposis HP:0200063, 21 tubular adenomas and 4 hyperplastic polyps removed between ages 40 and 59. Family history of bowel cancer and polyps, Intestinal polyps (HP:0200008) 1 1 Sarah Collis
00265416 - - - M - - - - - - - - - 1 1 Andreas Laner
00265418 - - - F - - - - - - - - - 1 1 Andreas Laner
00269597 - - - - - - - - - - - polyposis - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00290639 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 80 Mohammed Faruq
00290640 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00290641 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 123 Mohammed Faruq
00290642 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 16 Mohammed Faruq
00290643 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00290644 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00290645 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 65 Mohammed Faruq
00295134 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295664 - - - F - - - - - - - ? Neoplasm of the colon (HP:0100273) 1 1 Andreas Laner
00295978 - - - F - - - - - - - ? Neoplasm of the colon (HP:0100273) 1 1 Andreas Laner
00301379 - - - F - Germany - - - - - ? Dysgerminoma (HP:0100621); Intestinal polyp (HP:0005266) 1 1 Andreas Laner
00304337 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00310606 - - - - - - - - - - - polyposis - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00334284 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334296 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334310 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334348 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334354 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 2 1 Liu Wenbing
00334368 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334374 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334477 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334492 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334499 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334513 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334524 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334525 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 2 1 Liu Wenbing
00334865 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334869 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334872 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334879 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334926 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334931 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334934 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00335029 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00335030 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - IMD74 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00376156 - - - F - Belgium - - - - - cancer, pancreatic - 1 1 Kathleen Claes
00406981 - PubMed: Jiang 2022 analysis 486 colorectal cancer patients - - China - - - - - cancer, colon - 1 2 Johan den Dunnen
00406982 - PubMed: Jiang 2022 analysis 486 colorectal cancer patients - - China - - - - - cancer, colon - 1 2 Johan den Dunnen
00406983 - PubMed: Jiang 2022 analysis 486 colorectal cancer patients - - China - - - - - cancer, colon - 1 2 Johan den Dunnen
00419957 Pat1 PubMed: Nakano 202 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - IMAGE see paper; ..., intrauterine growth retardation; adrenal insufficiency; no genitourinary abnormality; immunodeficiency; Café au lait patches,; diffuse large B-cell lymphoma; 9y-delayed mental development, intellectual disability IQ33 2 1 Johan den Dunnen
00419958 Pat2 PubMed: Nakano 202 2-generation family, 1 affected, unaffected heterozygous carrier father M - Japan - - - - - IMAGE see paper; ..., jaundice; intrauterine growth retardation; adrenal insufficiency; immunodeficiency; growth hormone insufficiency; diffuse large B-cell lymphoma 2 1 Johan den Dunnen
00419959 Fam1Pat1 PubMed: Logan 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; scoliosis; osteopenia; small patella; seizures; gastrostomy; eczema 2 2 Johan den Dunnen
00419960 Fam1Pat2 PubMed: Logan 2018 sister F - United Kingdom (Great Britain) - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia 2 1 Johan den Dunnen
00419961 Pat3 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Ireland - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; midline accessory incisor; osteopenia; infant eczema 2 1 Johan den Dunnen
00419962 Pat4 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia - - - - - IMAGE intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; IgM paraproteinaemia 2 1 Johan den Dunnen
00419963 Pat5 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - IMAGE intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; hypopituitarism; T cell lymphoma; gastrostomy; absent patella 2 1 Johan den Dunnen
00419964 Pat6 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; bilat coxa valga; 11 ribs; 6 lumbar vertebrae; scoliosis; gastrostomy; infant eczema 2 1 Johan den Dunnen
00419965 Pat7 PubMed: Logan 2018 2-generation family, 1 affected, unaffected parents M - United States - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; hypopituitarism; atrial septal defect; brachydactyly; gastrostomy 2 1 Johan den Dunnen
00419966 Fam7Pat8 PubMed: Logan 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Ireland - - - - - IMAGE intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy 2 2 Johan den Dunnen
00419967 Fam7Pat9 PubMed: Logan 2018 sister F - Ireland - - - - - IMAGE intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy 2 1 Johan den Dunnen
00419968 Pat10 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; 11 ribs; clinodactyly; osteopenia; café au lait patches 2 1 Johan den Dunnen
00419969 Fam9Pat11 PubMed: Logan 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Australia - - - - - IMAGE intrauterine growth restriction; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patch 2 2 Johan den Dunnen
00419970 Fam9Pat12 PubMed: Logan 2018 sister F - Australia - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency 2 1 Johan den Dunnen
00419971 Pat13 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Australia - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; café au lait patch 2 1 Johan den Dunnen
00419972 Pat14 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - IMAGE intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; gastrostomy; hypercalaemia in infancy; café au lait patches; developmental dysplasia hip; kyphoscoliosis 2 1 Johan den Dunnen
00419973 Pat15 PubMed: Logan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - IMAGE intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patches; seizures; osteopenia; osteoporosis; nodular sclerosis; Hodgkin’s lymphoma 2 1 Johan den Dunnen
00435259 - - - F no New Zealand European - - - - polyposis - 1 1 Sarah Collis
00435496 Pat13 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w; 12m-first words; motor delay, >24m-first steps; mild intellectual disability; no autism spectrum disorder; Tantrums, inattention; no psychosis/schizophrenia; no use psychiatric drugs; history of obstructive sleep apnea; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; neurogenic bladder; tethered cord; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; macrocephaly, prominent forehead, wide mouth, slightly prominent anti- helices, joint hypermobility; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, G-tube; no gastroesophageal reflux; chronic constipation; failure to thrive, history of frequent vomiting; no skin hyperlaxity; no genitourinary abnormalities; livedo reticularis 1 1 Johan den Dunnen
00436397 - - - M no Hungary - - - - - cancer adrenocortical cancer 1 1 Anikó Bozsik
00457379 MINAS_25 Yuen (unpublished) - F - Singapore China - - - - MINAS Papillary thyroid ca 52y Triple negative breast ca 39 1 1 Jeanette Yuen
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