Table of Contents
1
UI - 11916155
AU - van Stolk RU
TI -
Familial and inherited colorectal cancer: endoscopic screening and
surveillance.
SO - Gastrointest Endosc Clin N Am 2002 Jan;12(1):111-33
AD - Department of Medicine, Northwestern University School of Medicine,
Chicago, Illinois, USA.
Familial risk of colorectal cancer is very common. The high-risk
inherited syndromes are well described and much is known about the
genetics and the effectiveness of registration, endoscopic surveillance,
and appropriate intervention in these patients. The inherited syndromes,
however, are extremely rare. There is a large group of patients in our
population who can benefit from risk stratification based on the number
of their relatives with colon cancer or adenomas and the age at which
those relatives developed neoplasm. The GI endoscopist has a vital role
in recommending and providing colonoscopic screening for this large
group of patients.
2
UI - 11960572
AU - Wu G; Wu W; Hegde M; Fawkner M; Chong B; Love D; Su LK; Lynch P; Snow K;
TI -
Richards CS
Detection of sequence variations in the adenomatous polyposis coli (APC)
gene using denaturing high-performance liquid chromatography.
SO - Genet Test 2001 Winter;5(4):281-90
AD - The Diagnostic Sequencing Laboratory, Department of Molecular and Human
Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
We have evaluated the usefulness of denaturing high performance liquid
chromatography (dHPLC) for scanning the adenomatous polyposis coli (APC)
gene for point mutations, small deletions, and insertions. Our assay
consists of 28 sets of primers to amplify the 15 exons of the APC gene.
All PCR reactions were amplified simultaneously using the same reaction
conditions in a 96-well format and then analyzed by dHPLC, using
empirically determined optimum temperatures for partial fragment
denaturation. Previously studied DNA specimens from 47 familial
adenomatous polyposis (FAP) patients were analyzed by dHPLC and all
mutations were correctly identified and confirmed by sequence analysis.
This approach identified a single-base substitution in exon 6 and a 2-bp
insertion in exon 15 that initially had not been detected by
single-strand conformational polymorphism (SSCP) analysis. A novel
mutation in exon 15 of the APC gene, 2065delG (codon 689) that had
previously been undetected by the protein truncation test (PTT) was also
identified by dHPLC. We present our validation studies of dHPLC
technology for APC gene analysis in terms of sensitivity and specificity
and compare it to current standard scanning technologies including PTT,
SSCP, and conformational sensitive gel electrophoresis (CSGE).
3
UI - 11977532
AU - Katai M; Sakurai A; Fukushima Y
TI -
[Genetic testing and counseling for familial tumor syndromes]
SO - Gan To Kagaku Ryoho 2002 Apr;29(4):502-7
AD - Division of Molecular and Clinical Genetics, Shinshu University
Hospital.
Recent developments in molecular biology have increased our
understanding of the genetics of familial tumor syndromes. Isolation of
the responsible genes has made it possible to identify gene carriers
before they manifest clinical symptoms, which enables early detection of
disease and at times prophylactic surgery. Indications for genetic
testing of susceptible family members, however, should be carefully
considered. Genetic counseling must be provided to clients before
genetic tests. Patients should be provided with the latest knowledge on
the disease and appropriately informed of the benefits and possible
problems associated with genetic test, as such information is essential
for clients to decide whether they will undergo such tests. Genetic
medicine is not sufficiently available at present in Japan.
Establishment of genetic services that deal with genetic counseling,
family support and ethical, social and legal issues is strongly desired.
4
UI - 11977536
AU - Gondo N; Nakagawa K; Yanagi H; Yamamura T
TI -
[Familial adenomatous polyposis (FAP)--diagnosis and management]
SO - Gan To Kagaku Ryoho 2002 Apr;29(4):532-8
AD - Second Department of Surgery, Hyogo College of Medicine, 1-1
Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.
Familial adenomatous polyposis (FAP) is characterized by more than
hundreds of colorectal adenomas, colorectal cancer in early adult life,
extracolonic features and genetic inheritance. Not only surgical
management of FAP (IAA, IACA and IRA) but also methodology of APC gene
test is almost established. Surveillance program and management of
extracolonic manifestation is going to contribute to patient's
prognosis. And now in Japan, two clinical intervention and
chemoprevention trial studies of FAP are going on. As these reasons, FAP
is most comprehensive model for understanding status quo and future
problem of familial cancer syndromes. However, there are many counseling
issues of FAP family members, choice of opportunity and method for
diagnosis, surveillance, chemoprevention, surgery and to inform family
member about hereditary risk. So, Cancer Genetic Counseling for FAP
family members must be provided for their lifetime long.
5
UI - 11950865
AU - Albuquerque C; Cravo M; Cruz C; Lage P; Chaves P; Fidalgo P; Suspiro A;
TI -
Nobre Leitao C
Genetic characterisation of patients with multiple colonic polyps.
SO - J Med Genet 2002 Apr;39(4):297-302
6
UI - 11987443
AU - Chikhaoui Y; Gelinas H; Joseph L; Lance JM
TI -
Cost-minimization analysis of genetic testing versus clinical screening
of at-risk relatives for familial adenomatous polyposis.
SO - Int J Technol Assess Health Care 2002 Winter;18(1):67-80
AD - Quebec Agency for Health Services and Technology Assessment.
OBJECTIVE: Familial adenomatous polyposis (FAP) is a well-known
hereditary colorectal cancer-predisposing syndrome. Genetic testing for
colorectal cancer risk is now part of standard medical practice, but
very little is known about the economic impact of this technology. The
aim of this study was to assess, from a healthcare system perspective,
the direct costs of two strategies for screening at-risk relatives of
FAP patients: clinical screening versus genetic testing for FAP.
METHODS: A systematic review of the literature was carried out.
Additional information was gathered from experts in research and
clinical laboratories and in hospital departments. A decision tree was
constructed to compare per-person and per-family costs of the two
strategies for screening at-risk relatives of FAP patients. Sensitivity
analysis was performed to assess the stability of the model across the
full range of plausible values for all key parameters. RESULTS:
According to the decision analysis, with FAP screening starting at
puberty, the average screening costs are $3,181 and $2,259 (Canadian
dollars), respectively, for the clinical screening and the genetic
testing strategies. Genetic screening is cost saving up to a first
screening age of 36. Sensitivity analysis shows that the results of the
baseline analysis hold across a variety of assumptions concerning the
parameter values. CONCLUSIONS: The genetic testing strategy is cost
saving relative to the clinical screening alternative. Apart from its
lower costs, it is associated with many other benefits. Accordingly,
under predefined conditions, predictive genetic testing seems to be the
optimal screening strategy for FAP.
7
UI - 11920286
AU - Howe JR; Shellnut J; Wagner B; Ringold JC; Sayed MG; Ahmed AF; Lynch PM;
TI -
Amos CI; Sistonen P; Aaltonen LA
Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot.
SO - Am J Hum Genet 2002 May;70(5):1357-62
AD - Department of Surgery, University of Iowa College of Medicine, Iowa
City, IA 52242-1086, USA. james-howe@uiowa.edu
Juvenile polyposis (JP) is an autosomal dominant syndrome in which
affected patients develop upper- and/or lower-gastrointestinal (GI)
polyps. A subset of families with JP have germline mutations in the
SMAD4 (MADH4) gene and are at increased risk of GI cancers. To date, six
families with JP have been described as having the same SMAD4 deletion
(1244-1247delAGAC). The objective of the present study is to determine
whether this deletion is a common ancestral mutation or a mutational
hotspot. DNA from members of four families with JP, from Iowa,
Mississippi, Texas, and Finland, that had this 4-bp deletion was used to
genotype 15 simple tandem repeat polymorphism (STRP) markers flanking
the SMAD4 gene, including 2 new STRPs within 6.3 and 70.9 kb of the
deletion. Haplotypes cosegregating with JP in each family were
constructed, and the distances of the closest markers were determined
from the draft sequence of the human genome. No common haplotype was
observed in these four families with JP. A 14-bp region containing the
deletion had four direct repeats and one inverted repeat. Because no
common ancestor was suggested by haplotype analysis and the sequence
flanking the deletion contains repeats frequently associated with
microdeletions, this common SMAD4 deletion in JP most likely represents
a mutational hotspot.
8
UI - 11982260
AU - Tinley ST
TI -
Colon cancer in women.
SO - AWHONN Lifelines 2001 Jun-Jul;5(3):26-32
AD - Creighton University, Omaha, Nebraska, USA.
9
UI - 11987643
AU - DeDecker L
TI -
When colon cancer runs in the family.
SO - Mich Nurse 2001 Aug;74(7):24, 31
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