About: Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

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About: Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer Goto Sponge NotDistinct Permalink

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scientific article published on 01 May 2005

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 2005 (uk) im Mai 2005 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en mayu de 2005 (ast) scientific article published on 01 May 2005 (en)
publication date	wds:Q81735951-CFABD535-D21C-4FE1-B528-1FF9ADFE9F59
publication date	2005-05-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q81735951-1EE267C4-7B6F-41B4-9A0C-E403329B4DC7 wds:Q81735951-2A1FC717-C26B-436A-B6B9-6186801547BB wds:Q81735951-48CE7CE7-1C83-4E4D-92AD-A2E05A9A4498 wds:Q81735951-5E041451-197D-4DA9-8816-98EE7B5F9953 wds:Q81735951-6D8B465F-477C-4921-A5F1-694C01CC28B8 wds:Q81735951-CC9A52B8-C3EB-43D5-81B1-F18E33524F09 wds:Q81735951-D141A9F5-3B8C-4878-B4F3-7EDA6B5D353F
author name string	Michael D Walsh Kerry Phillips Graeme Suthers Andrew Ruszkiewicz Daniel L Worthley Melissa Barker Graeme Bennett
rdfs:label	Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer (en) Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer (nl)
skos:prefLabel	Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer (en) Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer (nl)
name	Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer (en) Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer (nl)
title	wds:Q81735951-FC9FF826-0C1E-4E60-B787-E46BF84156E9
title	Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer (en)
page(s)	wds:Q81735951-256726F2-6F3A-40B4-90F0-9DF90AAABBBA
page(s)	1431-1436
instance of	wds:Q81735951-D749A0D3-A544-4E39-BECC-9606D0E6D1ED
instance of	scholarly article
main subject	wds:Q81735951-1B10FBB5-F261-4CF1-8950-E6125884768F wds:Q81735951-A8FBA278-103E-4D88-BB8D-C3B00AA745C1 wds:Q81735951-BFBE7735-BD9D-4402-B06B-B646136D584C
main subject	Lynch syndrome colorectal cancer colorectal carcinoma
PubMed ID	wds:Q81735951-330D182A-C06B-4310-8C39-CD26CB7F0F36
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/15887124
PubMed ID	15887124
published in	wds:Q81735951-5D27E684-05B2-42DB-A678-2854977C83F8
published in	Gastroenterology
issue	wds:Q81735951-2CA06559-02A1-4E58-B639-4E29F6308D14
volume	wds:Q81735951-B3E3D14D-F93B-4567-AF74-B2849D073EA2
issue	5
volume	128
DOI	wds:Q81735951-391B0146-C557-4E8E-A170-6A6D42981766
DOI	http://dx.doi.org/10.1053/J.GASTRO.2005.04.008
DOI	10.1053/J.GASTRO.2005.04.008
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q81735951
is cites work of	Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations Milestones of Lynch syndrome: 1895-2015. Extensive gene conversion at the PMS2 DNA mismatch repair locus A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts DNA repair mechanisms in dividing and non-dividing cells Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer PMS2 involvement in patients suspected of Lynch syndrome. The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families Anticipation in lynch syndrome: where we are where we go Long-range PCR facilitates the identification of PMS2-specific mutations. DNA mismatch repair and Lynch syndrome PMS2 mutations in childhood cancer Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders PMS2 monoallelic mutation carriers: the known unknown Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients. Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.
is cites work of	wds:Q35560811-B218E3BA-7B91-46EB-9211-1895EB4A7F12 wds:Q36527421-B1738404-8053-423E-8E91-31D31109D04D wds:Q40222264-46A39C5E-9FF7-4D50-8C04-8647BE21015D wds:Q43864989-ACD7580B-A159-484F-85F3-688EE8A72CA8 wds:Q79927330-DC0CF23F-1BD3-4784-8265-C21F377B4DC6 wds:Q24293661-0AF857F5-48E6-40FC-84A3-010D145FD79E wds:Q36609603-BC797010-9C13-4FD3-B989-F5A32E7315C6 wds:Q43640443-E275B03F-4BCB-4B68-80DB-035EFD0FA2D6 wds:Q27024662-542979BE-B809-4EB6-ADB3-A267C948C7D5 wds:Q57741867-38C4526C-0560-471C-8CDC-ADD3A4527345 wds:Q24655454-502AF628-155B-4537-9F07-6D48DEE85033 wds:Q33939068-BD177204-2E2E-4CA2-B15F-6FDD1D917F69 wds:Q42445665-7A00A9EB-FB7C-4822-AE32-413B4C61AEB6 wds:Q38301022-3AE79A5C-D0E0-4366-9A0F-63CDD080B63A wds:Q33866105-5FB6F36A-6F67-4D72-8685-70EC986B913E wds:Q34686576-D09715B3-E04B-4A72-A3DD-E6058C2860B5 wds:Q38748907-2EE16B38-C8D0-4A8A-B396-6DC171DCA989 wds:Q36587635-C6EB1378-C32B-4E71-8F76-65E39382594D wds:Q36540568-6FB328DA-A6A3-497E-9575-2F36F0A14C13 wds:Q35119757-0031C233-A6D1-43D8-9B6A-442120F8CD02

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