Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.

Hereditary non-polyposis colorectal cancer (HNPCC) is a clinical syndrome characterised by an inherited predisposition to early onset colorectal and uterine cancers and an increased incidence of other cancers. It is caused by germline defects in the human mismatch repair genes. Defects in two of the...

書誌詳細
主要な著者:	Beck, N, Tomlinson, I, Homfray, T, Frayling, I, Hodgson, S, Harocopos, C, Bodmer, W
フォーマット:	Journal article
言語:	English
出版事項:	1997

類似資料

Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
著者:: Tomlinson, I, 等
出版事項: (1997)

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled.
著者:: Beck, N, 等
出版事項: (1997)

Molecular and clinico-pathological features of two families with the HNPCC syndrome and unusual phenotypes
著者:: Tomlinson, I, 等
出版事項: (1997)

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.
著者:: Beck, N, 等
出版事項: (1997)

Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families.
著者:: Johnson, V, 等
出版事項: (2005)

Nuclear Pedigree Criteria of Suspected HNPCC
著者:: Kładny Józef, 等
出版事項: (2003-01-01)

The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria
著者:: Ashton Katie A, 等
出版事項: (2006-05-01)

HNPCC: Six new pathogenic mutations
著者:: Epplen Joerg T, 等
出版事項: (2004-06-01)

Deletion Mutations in an Australian Series of HNPCC Patients
著者:: McPhillips Mary, 等
出版事項: (2005-11-01)

DNA mismatch repair in lymphoblastoid cells from hereditary non-polyposis colorectal cancer (HNPCC) patients is normal under conditions of rapid cell division and increased mutational load.
著者:: Tomlinson, I, 等
出版事項: (1997)

Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in <it>MLH1</it>: Case report
著者:: Yee Herman, 等
出版事項: (2009-12-01)

Germline PTEN mutations in Cowden syndrome-like families.
著者:: Marsh, D, 等
出版事項: (1998)

Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
著者:: Halford, SE, 等
出版事項: (2003)

Clinical features and molecular analysis of a family with multiple colon tumours and reduced plasminogen activator activity.
著者:: Tomlinson, I, 等
出版事項: (1997)

Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.
著者:: Lipton, L, 等
出版事項: (2004)

Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis
著者:: Pigatto Francesca, 等
出版事項: (2004-11-01)

Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome
著者:: Juan M. Marqués-Lespier, 等
出版事項: (2014-01-01)

The influence of modifier genes on the disease phenotype in South African families with hereditary nonpolyposis colorectal cancer (HNPCC).
著者:: Felix, R, 等
出版事項: (2003)

Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.
著者:: Abram Bunya Kamiza, 等
出版事項: (2015-01-01)

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours.
著者:: Homfray, T, 等
出版事項: (1998)

The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers.
著者:: Wheeler, J, 等
出版事項: (2000)

Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria
著者:: Tala Andoni, 等
出版事項: (2022-02-01)

Validation of Fluorescent SSCP Analysis for Sensitive Detection of p53 Mutations
著者:: L. Moore, 等
出版事項: (2000-05-01)

Separation of DNA Strands Facilitates Detection of Point Mutations by PCR-SSCP
著者:: Nagamiah Selvakumar, 等
出版事項: (1997-04-01)

Determination of P53 gene mutations in gastric cancer by PCR-SSCP
著者:: HR.Joshaghani (Ph.D), 等
出版事項: (2003-09-01)

The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI plus sporadic colorectal cancers
著者:: Wheeler, J, 等
出版事項: (2000)

The role of hypermethylation of the hMLH1 promoter region in HNPCC versus sporadic RER plus colorectal cancers
著者:: Wheeler, J, 等
出版事項: (2000)

HISTORIA DEL CÁNCER COLORRECTAL HEREDITARIO NO POLIPÓSICO (HNPCC)
著者:: Patrick M Lynch, JD, MD
出版事項: (2017-07-01)

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
著者:: Lamlum, H, 等
出版事項: (1999)

SSCP Screening of Individual Aptamers
著者:: L.V. Gening, 等
出版事項: (2001-10-01)

Germline mutations in the mismatch repair genes hMLH1 and hMSH2 may predispose to the formation of multiple adenomatous polyps
著者:: Fearnhead, N, 等
出版事項: (2002)

Rapid Genetic Screening for Hemochromatosis Using Automated SSCP-Based Capillary Electrophoresis (SSCP-CE)
著者:: A.-K. Bosserhoff, 等
出版事項: (1999-06-01)

Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.
著者:: Lipton, L, 等
出版事項: (2003)

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
著者:: Bunn, C, 等
出版事項: (2002)

One-Step Multiplex PCR Strategy for Identification of Mutations by SSCP and DNA Sequencing
著者:: Marcía B.R. Lachtermacher, 等
出版事項: (2000-08-01)

Frequency of the Common <it>MYH </it>Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients
著者:: Ashton Katie A, 等
出版事項: (2005-05-01)

An exploratory comparison of genetic counselling protocols for HNPCC predictive testing.
著者:: Brain, K, 等
出版事項: (2005)

Disease-causing gene-flanking genomic rearrangements in HNPCC patients
著者:: Morak Monika, 等
出版事項: (2011-03-01)

GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation
著者:: Felix, R, 等
出版事項: (2006)

GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation
著者:: Felix, R, 等
出版事項: (2006)