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Family history of colorectal cancer in a Sweden county.

https://arctichealth.org/en/permalink/ahliterature18145
Source
Fam Cancer. 2003;2(2):87-93
Publication Type
Article
Date
2003
Author
Louise Olsson
Annika Lindblom
Author Affiliation
Department of Surgery, Central Hospital, Västerås, Uppsala University, Sweden, olsson@ltvastmanland.se
Source
Fam Cancer. 2003;2(2):87-93
Date
2003
Language
English
Publication Type
Article
Keywords
Adenomatous Polyposis Coli - diagnosis - epidemiology - genetics
Adolescent
Adult
Age Distribution
Age of Onset
Aged
Aged, 80 and over
Child
Child, Preschool
Colorectal Neoplasms - diagnosis - epidemiology - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - epidemiology - genetics
Family Health
Female
Genetic Predisposition to Disease
Humans
Infant
Infant, Newborn
Male
Mass Screening
Middle Aged
Pedigree
Questionnaires
Sweden - epidemiology
Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatosis polyposis (FAP) are well-known high-risk cancer syndromes. Hereditary colorectal cancer (HCRC) with at least three relatives with colorectal cancer and a dominant pattern of inheritance but with no specifications for age at onset and two close relatives with colorectal cancer (TCR) are other forms of familial clustering known to carry an increased risk of the disease. The frequency of the total burden of familial colorectal cancer is not well known. We therefore investigated the family history of 400/411 (97%) eligible patients with recently diagnosed colorectal cancer in Västmanland county, Sweden, during a 3-year period. Records or death certificates confirmed the diagnoses of relatives. Five patients (1.2%, 95% CI 0.15-2.2) were diagnosed as having HNPCC, eight (1.9%, 95% CI 0.6-3.2) as having HCRC and thirty-four (8.3%, 95% CI 5.6-11.0) were identified as having TCR. In total, 47 patients (11.4%, 95% CI 8.3-14.5) were found to have a contributing familial background. The implication is thus that every ninth patient with colorectal cancer represents a highly or intermediately increased risk of the disease among relatives. We conclude that the low frequency of individuals identified by family history alone makes the establishment of surveillance programs feasible.
PubMed ID
14574157 View in PubMed
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Genetic pre-disposition to colorectal cancer: Initiation of a prospective study in Eastern Ontario.

https://arctichealth.org/en/permalink/ahliterature212637
Source
Int J Cancer. 1996 Feb 20;69(1):68-70
Publication Type
Article
Date
Feb-20-1996
Author
A E Lagarde
H S Stern
Author Affiliation
Loeb Medical Research Institute, Ottawa Civic Hospital, Canada.
Source
Int J Cancer. 1996 Feb 20;69(1):68-70
Date
Feb-20-1996
Language
English
Publication Type
Article
Keywords
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - epidemiology - genetics
Disease Susceptibility
Family Health
Humans
Ontario - epidemiology
Pilot Projects
Prospective Studies
Risk factors
Abstract
A pilot study which is part of both a larger provincial initiative and a network is in progress to address the question of genetic pre-disposition to non-polyposis colorectal cancer in eastern Ontario (population 1,200,000). It is modeled along a dual process of recruitment of at-risk individuals based on either prior documentation of family histories or a close relationship to patients who are hospitalized for colorectal cancer treatment. The molecular diagnostic and genetic counseling components of the project are in their initial phase of operation while follow-up strategies are being planned.
PubMed ID
8600067 View in PubMed
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The identification of Lynch syndrome in British Columbia.

https://arctichealth.org/en/permalink/ahliterature147533
Source
Can J Gastroenterol. 2009 Nov;23(11):761-7
Publication Type
Article
Date
Nov-2009
Author
Carol M Cremin
Linlea Armstrong
Sharlene Gill
David Huntsman
Chris Bajdik
Author Affiliation
Hereditary Cancer Program, BC Cancer Agency, Vancouver, Canada. ccremin@bccancer.bc.ca
Source
Can J Gastroenterol. 2009 Nov;23(11):761-7
Date
Nov-2009
Language
English
Publication Type
Article
Keywords
Adaptor Proteins, Signal Transducing - genetics
Adult
Age Factors
Aged
Base Pair Mismatch
British Columbia - epidemiology
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - epidemiology - genetics
Early Detection of Cancer - methods - standards
Female
Genetic Counseling - methods - standards
Genetic Testing
Germ-Line Mutation
Humans
Male
Medical History Taking - methods - standards
Middle Aged
MutS Homolog 2 Protein - genetics
Nuclear Proteins - genetics
Prevalence
Program Evaluation
Abstract
To determine the prevalence of Lynch syndrome mutations in a Canadian hereditary cancer clinic population, and to determine the effectiveness of the program's referral criteria and testing algorithm.
A retrospective chart review of all patients who were referred for and received genetic counselling at the BC Cancer Agency's Hereditary Cancer Program for a family history of colon cancer from August 1, 2004, to September 1, 2006, was performed. Charts were reviewed for referral criteria met, cancer history, whether testing was offered and the outcome of testing.
Lynch syndrome was confirmed or highly suspected in 14.3% of index test patients (eight of 56) by the identification of a deleterious mutation or variant likely to be deleterious in either of the hMLH1 or hMSH2 mismatch repair genes. In the program, the two most effective criteria were a personal diagnosis of two or more primary Lynch syndrome-related cancers (one diagnosed at younger than 50 years of age) or two first-degree relatives with a Lynch syndrome-related cancer (both diagnosed at younger than 50 years of age). The respective positive predictive values of these two criteria were calculated to be 66.7% (95% CI 40% to 93%) and 58.3% (95% CI 30.4% to 86.2%).
The Hereditary Cancer Program developed and successfully implemented an approach that selected individuals at risk for Lynch syndrome with a significant pretest probability of mutation of 14.3%. Improved ascertainment of families with Lynch syndrome will require greater physician awareness of referral criteria, program advances in the testing algorithm and a population-based approach to screening incident colon cancers.
Notes
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PubMed ID
19893772 View in PubMed
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Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

https://arctichealth.org/en/permalink/ahliterature198455
Source
J Clin Oncol. 2000 Jun;18(11):2193-200
Publication Type
Article
Date
Jun-2000
Author
R. Salovaara
A. Loukola
P. Kristo
H. Kääriäinen
H. Ahtola
M. Eskelinen
N. Härkönen
R. Julkunen
E. Kangas
S. Ojala
J. Tulikoura
E. Valkamo
H. Järvinen
J P Mecklin
L A Aaltonen
A. de la Chapelle
Author Affiliation
Departments of Medical Genetics and Pathology, Haartman Institute, University of Helsinki, Finland.
Source
J Clin Oncol. 2000 Jun;18(11):2193-200
Date
Jun-2000
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Base Pair Mismatch
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - epidemiology - genetics
DNA Mutational Analysis
DNA Repair
DNA, Neoplasm - analysis
Female
Finland - epidemiology
Genetic markers
Germ-Line Mutation
Humans
Male
Microsatellite Repeats
Middle Aged
Mutation, Missense
Polymerase Chain Reaction
Registries
Abstract
Cancer morbidity and mortality can be dramatically reduced by colonoscopic screening of individuals with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, creating a need to identify HNPCC. We studied how HNPCC identification should be carried out on a large scale in a sensitive and efficient manner.
Colorectal cancer specimens from consecutive newly diagnosed patients were studied for microsatellite instability (MSI). Germline mutations in the MLH1 and MSH2 genes were searched for in MSI(+) individuals.
Among 535 colorectal cancer patients, 66 (12%) were MSI(+). Among these, 18 (3.4% of the total) had disease-causing germline mutations in MLH1 or MSH2. Among these 18 patients, five were less than 50 years old, seven had a previous or synchronous colorectal or endometrial cancer, and 15 had at least one first-degree relative with colorectal or endometrial cancer. Notably, 17 (94%) of 18 patients had at least one of these three features, which were present in 22% of all 535 patients. Combining these data with a previous study of 509 patients, mutation-positive HNPCC accounts for 28 (2.7%) of 1,044 cases of colorectal cancer, predicting a greater than one in 740 incidence of mutation-positive individuals in this population.
Large-scale molecular screening for HNPCC can be done by the described two-stage procedure of MSI determination followed by mutation analysis. Efficiency can be greatly improved by using three high-risk features to select 22% of all patients for MSI analysis, whereby only 6% need to have mutation analysis. Sensitivity is only slightly impaired by this procedure.
Notes
Erratum In: J Clin Oncol 2000 Oct 1;18(19):3456
PubMed ID
10829038 View in PubMed
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Prediction of Lynch syndrome in consecutive patients with colorectal cancer.

https://arctichealth.org/en/permalink/ahliterature152396
Source
J Natl Cancer Inst. 2009 Mar 4;101(5):331-40
Publication Type
Article
Date
Mar-4-2009
Author
Roger C Green
Patrick S Parfrey
Michael O Woods
H Banfield Younghusband
Author Affiliation
Department of Genetics, Faculty of Medicine, Memorial University, St John's, Newfoundland, Canada A1B 3V6. rcgreen@mun.ca
Source
J Natl Cancer Inst. 2009 Mar 4;101(5):331-40
Date
Mar-4-2009
Language
English
Publication Type
Article
Keywords
Aged
Canada - epidemiology
Colorectal Neoplasms - complications - epidemiology - pathology
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - epidemiology - genetics - pathology
DNA Mismatch Repair - genetics
Female
Genetic Testing - methods
Humans
Male
Middle Aged
Models, Statistical
Mutation
Predictive value of tests
ROC Curve
Reproducibility of Results
Risk assessment
Risk factors
Abstract
Lynch syndrome is caused by inherited mutations in DNA mismatch repair genes (primarily MSH2, MLH1, MSH6, and PMS2) and is one of the most prevalent inherited cancer syndromes. Several models have been developed to predict the occurrence of Lynch syndrome in high-risk patients and families, but it is not known how these models compare with one another or how they perform for colorectal cancer patients from the general population. We used data from such patients to test the ability of four models--Leiden, MMRpredict, PREMM(1,2), and MMRpro--to distinguish between those who did and did not carry DNA mismatch repair gene mutations.
We studied a consecutive series of 725 patients who were younger than 75 years at colorectal cancer diagnosis and whose DNA mismatch repair gene mutation status was available; 18 of the 725 patients carried such a mutation. For each model, we calculated the risk score, compared the observed number of mutations with the expected number, and determined the receiver operating characteristics. All statistical tests were two-sided.
Although all four models overestimated the probability of a mutation (range = 1.2- to 4.3-fold), especially in low-risk patients, they could discriminate between carriers and noncarriers of a mismatch repair mutation. The areas under the receiver operating characteristics curves from the four models ranged from 0.91 to 0.96. Carriers of mutations in the MSH6 or PMS2 genes had lower risk scores than carriers of MSH2 or MLH1 mutations. For example, the MMRpredict model gave median risk scores of 24% and 94% (P
PubMed ID
19244167 View in PubMed
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[Registration of hereditary non-polyposis colorectal cancer]

https://arctichealth.org/en/permalink/ahliterature20687
Source
Ugeskr Laeger. 1999 Nov 8;161(45):6174-8
Publication Type
Article
Date
Nov-8-1999
Author
I T Bernstein
M L Bisgaard
T. Myrhøj
Author Affiliation
H:S Hvidovre Hospital, gastroenheden, HNPCC-registret.
Source
Ugeskr Laeger. 1999 Nov 8;161(45):6174-8
Date
Nov-8-1999
Language
Danish
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - epidemiology - genetics
DNA Mutational Analysis
Denmark - epidemiology
English Abstract
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Prognosis
Registries
Abstract
Hereditary non-polyposis colorectal cancer is a dominant inherited disease, with development of colorectal cancer (CRC) and other cancers too. About 3% of all CRC-cases belong to an HNPCC-family. Mutations responsible for the disease has been identified in five genes, all of them involved in DNA mismatch repair. Since the establishment of the Danish HNPCC Register 345 families have been referred, and 101 of these families had HNPCC. Median age of onset for CRC was 50 years: Approximately 60% of the tumors were situated on the right side, 9% had synchronous tumors and the risk of metachronous tumours was 40% in 20 years. Tumours were localised in 64% of the cases, and the 5-year crude survival rate was better in HNPCC compared to sporadic CRC. The number of CRC diagnosed as Dukes A in HNPCC has risen since 1990, and the survival after CRC in HNPCC has increased. The disease specific mutation is identified in 21 families, from which 152 persons at risk have had a molecular genetic diagnose, and 83 could afterwards evade screening protocols. Few years after the establishment of the HNPCC-registry, it is indicated that information, registration and screening lead to an earlier diagnosis and a better prognosis after CRC.
PubMed ID
10603753 View in PubMed
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Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland.

https://arctichealth.org/en/permalink/ahliterature297967
Source
Fam Cancer. 2018 04; 17(2):205-208
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
04-2018
Author
Daniel R Evans
Jane S Green
Michael O Woods
Author Affiliation
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, 300 Prince Philip Drive, St. John's, NL, A1B 3V6, Canada.
Source
Fam Cancer. 2018 04; 17(2):205-208
Date
04-2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adult
Aged
Bone Morphogenetic Protein Receptors, Type I - genetics
Cohort Studies
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - epidemiology - genetics
DNA Mutational Analysis
Early Detection of Cancer - methods
Female
Genetic Predisposition to Disease
Genetic Testing - methods
Humans
Incidence
Male
Middle Aged
Mutation
Newfoundland and Labrador - epidemiology
Abstract
The Canadian province of Newfoundland and Labrador (NL) reports one of the highest incidence rates of familial colorectal cancer (CRC) worldwide. The NL population is an invaluable resource for studying genetic disorders because of a unique ancestry, and a willingness to participate in research studies. Familial colorectal cancer type X (FCCTX) describes a cluster of families with strong predisposition for CRC, of unknown etiology. A putative link between FCCTX and BMPR1a mutations has been identified in the Finnish population; however these findings have not been independently replicated. To investigate a potential connection between BMPR1a and FCCTX, we screened a cohort of 22 probands from unrelated NL FCCTX families using Sanger sequencing. This analysis did not independently replicate findings seen in Finland; as no candidate pathogenic BMPR1a mutations were uncovered. Our findings highlight that BMPR1a mutations are not a major contributor of FCCTX incidence in NL. Further investigation of additional FCCTX populations may assist in delineating a role for BMPR1a, if any, in FCCTX globally.
PubMed ID
28660566 View in PubMed
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7 records – page 1 of 1.