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NCI CANCERLIT® Search: Genetic Counseling and Screening - April 2002
National Cancer Institute®
Ultima Vez Modificado: 1 de abril del 2002
Table of Contents
1
UI - 11551108
AU - Wang ZH; Zeng B; Pastores GM; Raksadawan N; Ong E; Kolodny EH
TI -
Rapid detection of the two common mutations in Ashkenazi Jewish patients
with mucolipidosis type IV.
SO - Genet Test 2001 Summer;5(2):87-92
AD - Department of Neurology, New York University School of Medicine, NY
10016, USA.
Among Ashkenazi Jewish individuals with mucolipidosis IV (ML IV), two
mutations in the ML IV gene, IVS3-1A --> G and delEX1-EX7, account for
more than 95% of disease alleles. The reported method of genotyping for
the delEX1-EX7 mutation involves a cumbersome multistep procedure. In
the present study, a new simplified one-step procedure is described that
detects this mutation in both patients and carriers. An improved
procedure is also described for detection of the IVS3-1A --> G mutation.
Using these improved procedures, we have characterized the ML IV mutant
alleles in 27 patients and 95 of their relatives from 22 families, and
in 123 unrelated and unaffected Ashkenazi Jewish controls. Of the 27 ML
IV patients, 16 patients (59.3%) were found to be homozygous for the
IVS3-1A --> G mutation and 1 patient (3.7%) homozygous for the
delEX1-EX7 mutation. Additionally, 9 patients (33.3%) were compound
heterozygotes for IVS3-1A --> G/delEX1-EX7. Among the 123 Ashkenazi
Jewish controls, two individuals were identified as heteroallelic with
one IVS3-1A --> G mutation (carrier frequency: approximately 1 in 61);
none showed the delEX1-EX7 mutation. The modifications described here
provide a more facile means of genotyping patients and carriers and
expand the possibilities for screening at-risk populations.
2
UI - 11750985
AU - Hussain RI; Ballard CG; Edwardson JA; Morris CM
TI -
Transferrin gene polymorphism in Alzheimer's disease and dementia with
Lewy bodies in humans.
SO - Neurosci Lett 2002 Jan 4;317(1):13-6
AD - MRC Building, Institute for the Health of the Elderly, Newcastle General
Hospital, Westgate Road, Newcastle upon Tyne, UK.
Genetic studies in Alzheimer's disease (AD), have indicated that the
apolipoprotein E locus (APO E) is a major susceptibility factor, but
that it can only account for approximately 50% of AD cases. Several
other studies have attempted to identify additional genetic loci
associated with disease development, often based on a candidate gene
approach. As several lines of evidence indicate that oxidative stress
and free radical damage occur in AD, the transferrin gene (TF) has been
suggested as a candidate locus for AD since it is the major transport
protein for iron, which itself is a major factor in free radical
generation. Previous studies have shown elevated TF C2 allele
frequencies in AD, this being specifically associated with carriers of
the APO E varepsilon4 allele. We have therefore determined the influence
of the common polymorphisms in TF, C1 and C2, in dementia. The frequency
of the C2 allele was not significantly associated with AD.
Stratification of cases according to the APO E varepsilon4 allele showed
a highly significant excess of the C2 allele in AD cases without the
varepsilon4 allele, contrasting with previous studies. Given the
contrasting findings between reports of altered TF C2 allele
frequencies, the TF locus would not appear to be a strong risk factor
for AD in this population.
3
UI - 11336397
AU - Harris RA; Washington AE; Feeny D; Kuppermann M
TI -
Decision analysis of prenatal testing for chromosomal disorders: what do
the preferences of pregnant women tell us?
SO - Genet Test 2001 Spring;5(1):23-32
AD - Department of Obstetrics, School of Medicine, University of California,
San Francisco 94143-0856, USA.
Current guidelines recommend offering invasive testing for chromosomal
disorders only to women who are aged 35 or older, or who are at
similarly elevated risk (as determined by maternal serum and/or
ultrasonographic screening). We conducted a decision analysis, using
preference scores obtained from pregnant women, to determine whether
current guidelines maximize the health-related quality of life of these
women. If only miscarriage and chromosomal abnormalities are considered,
the expected value of testing exceeds that of not testing for women 30
years of age or older. However, if a comprehensive range of relevant
testing outcomes is considered, testing offers a higher expected value
than not testing, regardless of age. Furthermore, patient preferences
for specific testing outcomes play a much more substantial role in
determining the course of action with the highest expected value than
does the probability of any of the possible testing outcomes. The
current age- and risk-based guideline for prenatal diagnosis does not
maximize expected value and fails to appropriately consider individual
patient preferences. For counseling purposes, how an individual values
the presence and timing of fetal chromosomal information should be
carefully understood.
4
UI - 11759816
AU - Chang J; Elledge RM
TI -
Clinical management of women with genomic BRCA1 and BRCA2 mutations.
SO - Breast Cancer Res Treat 2001 Sep;69(2):101-13
AD - Department of Medicine, Baylor-Methodist Breast Care Center, Baylor
College of Medicine, Houston, TX 77030, USA. jcchang@bcm.tmc.edu
PURPOSE: There is increasing evidence that BRCA1 and BRCA2 associated
tumors may differ from sporadic cancers. The purpose of this report is
to review the current state of knowledge of BRCA1 and BRCA2, the biology
of associated tumors, and possible risk reduction strategies in women
with these deleterious mutations. DESIGN AND METHODS: We conducted an
extensive literature search of all published articles (including
Medline) on preclinical data on the function of BRCA1 and BRCA2,
associated tumor pathology, and the clinical management for both
unaffected carriers and affected patients. RESULTS: BRCA1 and BRCA2 are
likely to act as tumor suppressor genes, and together with RAD51 operate
in a common DNA damage response pathway implicated in double-strand
repair. Breast cancers associated with BRCA1 are frequently of a higher
grade, steroid hormone receptor negative, and appear to have a higher
proportion of atypical or typical medullary subtype. Conversely, BRCA2
associated breast cancers do not differ significantly from sporadic
cancers. No special tumor phenotype has been ascribed to BRCA1 or BRCA2
associated ovarian cancers. Guidelines for risk reduction strategies for
the high risk unaffected carrier have been recommended by expert panels
in the USA and Europe. Lifestyle changes, multi-modality screening,
chemoprevention, and prophylactic oophorectomy and mastectomy, with
their possible benefits and attendant risks are described. Finally,
locoregional and systemic treatment in breast and ovarian cancers
associated with these mutations, and differences between these and
sporadic cancers are discussed. CONCLUSIONS: Although the incidence of
breast or ovarian cancers that can be attributed to BRCAI or BRCA2
mutations account for less than 5% of all cancers, these cancers may
differ from sporadic cases in terms of tumor biology and phenotype.
These differences may impact directly on clinical management of breast
and ovarian cancer patients, and their relatives. Further
recommendations of these patients are constantly changing as new
information emerges on the clinical behavior of these cancers.
5
UI - 11846736
AU - Lindblad AN
TI -
To test or not to test: an ethical conflict with presymptomatic testing
of individuals at 25% risk for Huntington's disorder.
SO - Clin Genet 2001 Dec;60(6):442-6
AD - Karolinska Institute, Stockholm, Sweden. lindbladanna@hotmail.com
The first presymptomatic test for Huntington's disease was developed in
the 1980s. With the detection of the gene causing the disorder in 1993,
it became possible to do direct mutation tests with almost 100%
sensitivity and specificity. The author discusses some of the ethical
issues that arise when an adult child at 25% risk for the disease wishes
to have the test, but the parent(s) at 50% risk refuses to have one. If
the child tests positive, the genetic status of the parent will also be
disclosed. No matter what course of action is chosen in this situation,
the ethically legitimate interests of either child or parent might be
violated. The author examines different alternatives and suggests a
solution that might be acceptable to all parties.
6
UI - 11900216
AU - Shannon KM; Lubratovich ML; Finkelstein DM; Smith BL; Powell SN; Seiden
TI -
MV
Model-based predictions of BRCA1/2 mutation status in breast carcinoma
patients treated at an academic medical center.
SO - Cancer 2002 Jan 15;94(2):305-13
AD - Division of Hematology/Oncology, Massachusetts General Hospital, Boston
02114, USA.
BACKGROUND: Women with an existing breast carcinoma diagnosis who are
found to carry a BRCA1/2 mutation have a substantial risk of developing
both a contralateral breast carcinoma and ovarian carcinoma. In a newly
diagnosed breast carcinoma patient, this genetic information may
influence the management of her disease. To assess the volume of
patients who may need genetic services at the time of diagnosis, the
authors determined the proportion of women with newly diagnosed breast
carcinoma at the study institution who would be eligible for genetic
testing. METHODS: Fifty consecutive women with new breast carcinoma who
were attending a multidisciplinary clinic were interviewed. Detailed,
three-generation pedigrees were collected for each patient by a genetic
counselor. Three commonly used probability models were used to calculate
each woman's predicted risk of harboring a germline BRCA1/2 mutation.
RESULTS: Eleven of 50 patients (22% [95% confidence interval, 12-36%])
were calculated to have a > or = 10% probability of carrying a BRCA1/2
mutation by at least one mathematic model and should have been offered
genetic counseling that included the discussion of genetic testing.
There were considerable discrepancies between probability calculations
among the three mathematic models. One of the 11 patients who was
eligible for genetic testing pursued genetic counseling within 12 months
of diagnosis. CONCLUSIONS: At a large academic medical center, a
substantial proportion of unselected women attending a multidisciplinary
clinic were found to have a > or = 10% risk of carrying a BRCA1/2
mutation. The actual number of patients eligible to receive BRCA1/2
genetic testing outweighs the number of patients seen for genetic
counseling at the study institution. Finally, limited correlation was
found between current predictive models.
7
UI - 11899391
AU - Wolpert N; Warner E; Seminsky MF; Futreal A; Narod SA
TI -
Prevalence of BRCA1 and BRCA2 mutations in male breast cancer patients
in Canada.
SO - Clin Breast Cancer 2000 Apr;1(1):57-63; discussion 64-5
AD - Queens University, Kingston, Ontario, Canada.
Men who inherit a mutation in the BRCA2 gene carry a 6% risk of
developing breast cancer by the age of 70. The proportion of male breast
cancers attributable to BRCA mutations has not yet been determined with
accuracy. We studied a series of 14 male breast cancer patients,
unselected for family history or ethnicity, who were treated at a single
regional cancer center in Canada. Family histories were obtained, and
the men were tested for germ-line mutations of BRCA1 and BRCA2. Seven of
these patients had a significant family history of breast cancer (i.e.,
at least one first- or second-degree relative with breast cancer
diagnosed before age 70). Two of the men carried BRCA2 mutations, but no
BRCA1 mutations were found. Both mutation carriers reported a positive
family history and a personal history of cancer that preceded their
diagnosis of breast cancer. Our results support the recommendation that
male breast cancer patients who have a significant family history of
breast or ovarian cancer should be offered genetic counseling and
testing.
8
UI - 11899542
AU - Krutilkova V; Havlovicova M; Goetz P
TI -
[Specialized genetic counseling in pediatric and adult oncology
patients]
SO - Cas Lek Cesk 2002;141(1):23-7
AD - Ustav biologie a lekarske genetiky 2. LF UK a FNM, Praha.
vera.krutilkova@lfmotol.cuni.cz
Five to ten percent of oncological diseases exhibit monogenic mode of
inheritance. They occur as a consequence of the germline mutations of
tumor suppressor genes and of the genes engaged in reparative processes.
Most common monogenically determined oncological diseases are: AD form
of breast and ovarian cancer, hereditary nonpolyposis colorectal cancer
(HNPCC, Lynch sy.) and familiar adenomatous polyposis (FAP). The aim of
the genetic investigation is to evaluate whether the index family deals
with the hereditary form of tumor predisposition, than, if possible, to
perform DNA analysis in the family and to propose preventive screening
program (methods) for the probands in risk.
9
UI - 11899543
AU - Macek M; Vilimova S; Potuznikova P; Yurov Y; Vorsanova S; Diblik J;
TI -
Krebsova A; Machatkova M; Koudova M; Alanova R; Matejckova M; Hladikova
E; Brouckova M; Huttelova R; Vincenciova R; Paulasova P; Brandjeska M;
Uhrova E; Kratenova A; Smetanova I; Novotna D; Chudoba D; Kulovany E;
Krutilkova V; Hromadnikova I; Mardesic T; Macek M Jr
[Medical genetics in reproductive medicine]
SO - Cas Lek Cesk 2002;141(1):28-34
AD - Ustav biologie a lekarske genetiky 2. LF UK a FNM, Praha.
Reproductive genetics (RG) is another new field of medical genetics,
integrated with reproductive medicine, assisted reproduction and
developmental genetic. RG is closely linked to the perioconceptional
prevention, perinatology, ultrasound and biochemical screening in the
end of the first and beginning of the second trimesters. RG is based on
the system of specialized genetic counseling, clinical cytogenetics,
molecular cytogenetics and molecular genetics to provide
prefertilization, preimplantation and classical prenatal diagnosis in
the Ist to IIIrd trimesters. Thus, RG is part of the fetal medicine and
therapy. The six years experience with RG is summarized. A system of the
specialized health care, organized, if possible in one integrated center
of RG and reproductive medicine (RM) is presented. Reproductive medicine
provides all necessary clinical gynecological and andrological
surveillance, with assisted reproduction and further obstetrical
ultrasound examinations, including nuchal translucency measurements and
2D, 3D ultrasound, echocardiography examinations, if indicated, as well
as the invasive method of prenatal diagnosis and perinatology care.
Specialized genetic counseling and cytogenetic analysis, if indicated,
should be offered to all partners with reproductive disorders as well as
to oocyte donors. Chromosome anomalies are disclosed in 6% of men with
abnormal sperm analysis as well as in women with severe reproductive
disorders. In males with severe oligo, azoospermia, the sperm aneuploidy
analysis by molecular cytogenetic methods is recommended. Advised is
also the molecular genetic detection of Y chromosome microdeletions,
which is detected in 9% of our azoospermic men with deletions in AZFb
region. CFTR gene mutations and intron 8 and 10 polymorphism examination
is provided not only in men with obstructive azoospermia (CBAVD), but
also if severe oligospermy with less than 1 x 10(6) sperm/ml is
detected. Molecular genetic analysis of thrombophilic mutations of
factor II., V. (Leiden) and MTHFR gene in unexplained recurrent
abortions and in cases with unsuccessful IVF is part of the diagnostic
strategy. The population frequencies of carriers of mutations of factor
II. (2.3%), factor V.-Leiden (5.7%) and MTHFR gene (38%) were
determined. The laser biopsy of the first polar body and of blastomeres
was introduced for FISH analysis of chromosome aneuploidies.
Quantitative fluorescent PCR (QFPCR) detection is used for testing of
the most frequent delta F508 CFTR gene mutation and the most frequent
aneuploidies of chromosome 13, 18, 21, X and Y. QFPCR was successfully
tested for male fetal sex examination from partially purified fetal
cells in the maternal blood. The first trimester ultrasound and
biochemical screening is recommended to all successful pregnancies after
different IVF methods. If borderline levels of first trimester
biochemical screening of PAPP-A protein and beta hCG are detected
without pathological ultrasound findings, classical triple test of
biochemical screening in 16th week of gestation is recommended. If
pathological results of ultrasound and biochemical screening are
disclosed, invasive prenatal genetic diagnosis is indicated as well as
in pregnancies after ICSL, if there is not any obstetrical
contraindication.
10
UI - 11886507
AU - Chwirot BW; Chwirot S; Sypniewska N; Michniewicz Z; Redzinski J;
TI -
Kurzawski G; Ruka W
Fluorescence in situ detection of human cutaneous melanoma: study of
diagnostic parameters of the method.
SO - J Invest Dermatol 2001 Dec;117(6):1449-51
AD - Interdisciplinary Group of Optical Methods of Early Detection of Cancer,
Institute of General and Molecular Biology, Nicholas Copernicus
University, Torun, Poland. chwirot@biol.uni-torum.pl
Multicenter study of the diagnostic parameters was conducted by three
groups in Poland to determine if in situ fluorescence detection of human
cutaneous melanoma based on digital imaging of spectrally resolved
autofluorescence can be used as a tool for a preliminary selection of
patients at increased risk of the disease. Fluorescence examinations
were performed for 7228 pigmented lesions in 4079 subjects.
Histopathologic examinations showed 56 cases of melanoma. A sensitivity
of fluorescence detection of melanoma was 82.7% in agreement with 82.5%
found in earlier work. Using as a reference only the results of
histopathologic examinations obtained for 568 cases we found a
specificity of 59.9% and a positive predictive value of 17.5% (melanomas
versus all pigmented lesions) or 24% (melanomas versus common and
dysplastic naevi). The specificity and positive predictive value found
in this work are significantly lower than reported earlier but still
comparable with those reported for typical screening programs. In
conclusion, the fluorescence method of in situ detection of melanoma can
be used in screening large populations of patients for a selection of
patients who should be examined by specialists.
11
UI - 11886538
AU - Zlotogorski A; Panteleyev AA; Aita VM; Christiano AM
TI -
Clinical and molecular diagnostic criteria of congenital atrichia with
papular lesions.
SO - J Invest Dermatol 2001 Dec;117(6):1662-5
AD - Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel.
Congenital atrichia with papular lesions is a rare, autosomal recessive
form of total alopecia and mutations in the hairless (hir) gene have
been implicated in this disorder. Published estimates of the prevalence
of this disorder remain surprisingly low considering pathogenetic
mutations in hir have been found in distinct ethnicities around the
world. Therefore, it is likely that congenital atrichia with papular
lesions is far more common than previously thought and is often mistaken
for its phenocopy, the putative autoimmune form of alopecia universalis.
To clarify this discrepancy, we propose criteria for the clinical
diagnosis of congenital atrichia with papular lesions. Among these is
the novel report of the consistent observation of hypopigmented whitish
streaks on the scalp surface of affected individuals. Additionally, we
report the identification of a novel missense mutation in hir from a
family of Arab Palestinian origin that exhibits the pathognomonic
features of atrichia with papular lesions. Collectively, we anticipate
that an increased recognition of this disorder will result in more
accurate diagnosis and the sparing of unnecessarily treatment to
patients.
12
UI - 11870168
AU - Scheuer L; Kauff N; Robson M; Kelly B; Barakat R; Satagopan J; Ellis N;
TI -
Hensley M; Boyd J; Borgen P; Norton L; Offit K
Outcome of preventive surgery and screening for breast and ovarian
cancer in BRCA mutation carriers.
SO - J Clin Oncol 2002 Mar 1;20(5):1260-8
AD - Clinical Genetics, Breast Cancer Medicine, and Developmental
Chemotherapy Services, Department of Medicine, Memorial Sloan-Kettering
Cancer Center, New york, NY 10021, USA.
PURPOSE: To prospectively determine the impact of genetic counseling and
testing on risk-reduction strategies and cancer incidence in a cohort of
individuals at hereditary risk for breast and ovarian cancer. PATIENTS
AND METHODS: Two hundred fifty-one individuals with BRCA mutations were
identified at a single comprehensive cancer center from May 1, 1995,
through October 31, 2000. Uniform recommendations regarding screening
and preventive surgery were provided in the context of genetic
counseling. Patients were followed for a mean of 24.8 months (range, 1.6
to 66.0 months) using standardized questionnaires, chart reviews, and
contact with primary physicians. RESULTS: Frequency of cancer
surveillance by physical examinations and imaging studies increased
after genetic counseling and testing. Twenty-one breast, ovarian,
primary peritoneal, or fallopian tube cancers were detected after
receipt of genetic test results. Among 29 individuals choosing
risk-reducing mastectomy after testing, two were found to have occult
intraductal breast cancers. Among 90 individuals who underwent
risk-reducing salpingo-oophorectomy, one early-stage ovarian neoplasm
and one early-stage fallopian tube neoplasm were found. Radiographic or
tumor marker-based screening detected six breast cancers, five of which
were stage 0/I, one early-stage primary peritoneal cancer, and three
stage I or II ovarian cancers. Six additional breast cancers were
detected by physical examination between radiographic screening
intervals; four of these six tumors were stage I. No stage III or stage
IV malignancies were detected after genetic testing. CONCLUSION: This
study provides prospective evidence that genetic counseling and testing
increased surveillance and led to risk-reducing operations, which
resulted in diagnosis of early-stage tumors in patients with BRCA1 and
BRCA2 mutations.
13
UI - 11863017
AU - Parker CM
TI -
Camping trips and family trees: must Tennessee physicians warn their
patients' relatives of genetic risks?
SO - Tenn Law Rev 1998 Winter;65(2):585-618
AD - University of Tennessee College of Law, USA.
14
UI - 11863019
AU - Burnett B
TI -
Genetic discrimination: legislation required to keep genetic secrets.
SO - Seton Hall Legis J 1997;21(2):502-34
15
UI - 11863023
AU - Holmes EM
TI -
Solving the insurance/genetic fair/unfair discrimination dilemma in
light of the Human Genome Project.
SO - KY Law J 1996;85(3):503-664
AD - Appalachian School of Law, Grundy, Virginia 24614, USA.
16
UI - 11863024
AU - Underwood RH; Cadle RG
TI -
Genetics, genetic testing, and the specter of discrimination: a
discussion using hypothetical cases.
SO - KY Law J 1996;85(3):665-96
AD - College of Law, University of Kentucky, USA.
17
UI - 11894916
AU - Wiedemann L M; Burns J H; Birnie G D
TI -
Differences among the polyadenylated RNA sequences of human leucocyte
populations: an approach to the objective classification of human
leukaemias.
SO - EMBO J 1983;2(1):9-13
AD - The Beatson Institute for Cancer Research, Bearsden, Glasgow, UK.
We have constructed a complementary DNA (cDNA) library representing
expressed sequences of the white blood cells from a patient with chronic
granulocytic leukaemia. The library was screened by colony hybridization
of 32P-labelled cDNAs synthesized from the polyadenylated RNAs of the
white blood cells from patients with chronic granulocytic or chronic
lymphocytic leukaemia. The autoradiographic patterns were compared and
70 recombinants were selected to comprise a panel which distinguished
between these two types of leukaemia. Hybridization of this panel with
complementary DNAs transcribed from the polyadenylated RNAs of a variety
of normal and neoplastic leucocyte populations showed that the RNA
sequences in high abundance in leucocytes from chronic granulocytic
leukaemias differ quite radically from those in other leucocytes. The
patterns of hybridization seen when this panel was challenged with cDNAs
representing the RNAs of normal and leukaemic leucocyte populations were
sufficiently different to distinguish clearly the peripheral blood
leucocytes of chronic granulocytic leukaemias from other populations of
white blood cells, both normal and leukaemic. We suggest that this
approach might provide additional markers useful in the classification
of the acute leukaemias, especially the undifferentiated leukaemias
whose identification by conventional methods is uncertain.
18
UI - 11762820
AU - Freyer G; Ligneau B; Schlumberger M; Blandy C; Contedevolx B;
TI -
Trillet-Lenoir V; Lenoir GM; Chau N; Dazord A
Quality of life in patients at risk of medullary thyroid carcinoma and
followed by a comprehensive medical network: trends for future
evaluations.
SO - Ann Oncol 2001 Oct;12(10):1461-5
AD - Medical Oncology Unit, Centre Hospitalier Lyon-Sud, and EA 643,
Universite Lyon I, France. Gilles.Freyer@chu-lyon.fr
BACKGROUND: As shown in a previous study, the knowledge of the genetic
risk in individuals belonging to families at risk of medullary-thyroid
carcinoma (MTC) could be associated with impaired quality of life (QoL).
PATIENTS AND METHODS: In the present study, we compared the QoL scores
obtained in the same period with the subjective quality of life profile
(SQLP): in 82 individuals at risk of MTC who had been tested for
Ret-mutations; in 200 women at risk of familial breast/ovarian cancer
syndrome (BOC); and in a control population of 3,501 healthy volunteers.
RESULTS: Significant differences were observed in favour of healthy
volunteers as well as individuals at risk of MTC, over women at risk of
BOC (mean scores: 0.89, 0.85, and 0.64, respectively, P < or = 0.001),
but QoL scores were not statistically different between individuals at
risk of MTC and the control population (P = 0.2). However, they were
significantly inferior in the subgroup of germline Ret-mutation
carriers, as compared to the control population (mean scores: 0.73 and
0.89, P = 0.04). In the latter, the relationships with the children and
the family were the most important facets of their QoL. CONCLUSION: Our
results confirm the potentially negative impact of the knowledge of the
genetic risk of cancer and its consequences in terms of morbidity and
follow-up, on the QoL in people followed at oncogenetic visits.
19
UI - 11794449
AU - Hedera P
TI -
Ethical principles and pitfalls of genetic testing for dementia.
SO - J Geriatr Psychiatry Neurol 2001 Winter;14(4):213-21
AD - Department of Neurology, University of Michigan, Ann Arbor 48109-0940,
USA.
Progress in the genetics of dementing disorders and the availability of
clinical tests for practicing physicians increase the need for a better
understanding of multifaceted issues associated with genetic testing.
The genetics of dementia is complex, and genetic testing is fraught with
many ethical concerns. Genetic testing can be considered for patients
with a family history suggestive of a single gene disorder as a cause of
dementia. Testing of affected patients should be accompanied by
competent genetic counseling that focuses on probabilistic implications
for at-risk first-degree relatives. Predictive testing of at-risk
asymptomatic patients should be modeled after presymptomatic testing for
Huntington's disease. Testing using susceptibility genes has only a
limited diagnostic value at present because potential improvement in
diagnostic accuracy does not justify potentially negative consequences
for first-degree relatives. Predictive testing of unaffected subjects
using susceptibility genes is currently not recommended because
individual risk cannot be quantified and there are no therapeutic
interventions for dementia in presymptomatic patients.
20
UI - 11899651
AU - Blanchard DK; Hartmann LC
TI -
Prophylactic surgery for women at high risk for breast cancer.
SO - Clin Breast Cancer 2000 Jul;1(2):127-34; discussion 135
AD - Department of Surgery, Mayo Clinic, Rochester, MN 55905, USA.
Women at high risk for the development of breast cancer have several
options open to them including increased cancer surveillance,
prophylactic mastectomy and/or oophorectomy, and chemoprevention. We
consider high-risk women to be those with known BRCA mutations or a
strong family history characterized by multiple relatives with breast
cancer, early age at diagnosis, and in some families, ovarian cancer. We
present existing data regarding prophylactic surgery for these women.
Essentially, a woman at high risk for breast cancer may choose to
undergo bilateral prophylactic mastectomy, with or without
reconstruction. For patients who have a known breast cancer,
contralateral mastectomy is also an option. Finally, for women in
families with a strong incidence of ovarian cancer, prophylactic
oophorectomy can be considered.
21
UI - 11908766
AU - Thomas S M
TI -
Pharmacogenetics: the ethical context.
SO - Pharmacogenomics J 2001;1(4):239-42
AD - Nuffield Council on Bioethics, London, UK.
sthomas@nuffieldfoundation.org
22
UI - 11920551
AU - Lee SC; Bernhardt BA; Helzlsouer KJ
TI -
Utilization of BRCA1/2 genetic testing in the clinical setting: report
from a single institution.
SO - Cancer 2002 Mar 15;94(6):1876-85
AD - Department of Oncology, Johns Hopkins Medical Institution, Baltimore, MD
21205, USA.
BACKGROUND: Clinical testing for BRCA1/2 has been available since 1996.
Interest in testing in the research and hypothetical situations has been
consistently high, but there have been limited reports on its clinical
utilization. METHODS: This is a retrospective study of BRCA1/2 test
utilization by high-risk patients who were seen at the Johns Hopkins
carrying a BRCA1/2 mutation were offered genetic testing. Of these, 26
testing. Overall, 68 of 258 (26%) underwent genetic testing. Educational
level, number of children or daughters, breast carcinoma screening
behavior, smoking and drinking behavior, perceived risk of breast
carcinoma, and family history was not associated with test utilization.
Eligibility for free testing, prior history of breast or ovarian
carcinoma, Ashkenazi Jewish versus non-Ashkenazi Jewish heritage,
genetic risk category, and age category were associated with test
utilization, and in multivariate analysis, the first three remained
statistically significant factors associated with genetic testing. Only
26% of the 50 patients who did not have access to free testing sought
insurance reimbursement, of which greater than 50% (7 of 13) had a prior
diagnosis of breast or ovarian carcinoma. CONCLUSIONS: The actual
utilization of BRCA1/2 genetic testing in a clinical setting is lower
than in the research and hypothetical settings. Potential obstacles
include cost, fear of insurance discrimination, and need to involve an
affected family member in the testing process. Copyright 2002 American
Cancer Society.
23
UI - 11757956
AU - Major T; Svetel M; Romac S; Kostic VS
TI -
DYT1 mutation in primary torsion dystonia in a Serbian population.
SO - J Neurol 2001 Nov;248(11):940-3
AD - PCR Center, Faculty of Biology, University of Belgrade, Yugoslavia.
Primary torsion dystonia (PTD) is a clinically and genetically
heterogeneous movement disorder. A GAG deletion at position 946 in the
DYT1 gene is responsible for most cases of autosomal dominant
early-onset PTD. We analysed the DYT1 mutation in 50 patients from a
Serbian population, selected according to the proposed guidelines for
diagnostic testing: (a) 38 patients with PTD onset < 26 years, and (b)
12 patients with the disease onset +/- 26 years, but with at least one
affected family member with early-onset dystonia. Only three apparently
sporadic patients among the 50 individuals tested were positive for the
GAG deletion in the DYT1 gene: one with typical, generalized, one with
long-lasting, non-progressive segmental, and one with multifocal
dystonia. Molecular analysis of relatives in 2 families revealed that
the lack of family history was due to reduced penetrance.
24
UI - 11808679
AU - Parker M
TI -
Genetics and the interpersonal elaboration of ethics.
SO - Theor Med Bioeth 2001 Sep;22(5):451-9
AD - The Ethox Centre, University of Oxford, Institute of Health Sciences,
UK. michael.parker@ethics-and-communication-in-health.oxford.ac.uk
Confidentiality in genetic testing poses important ethical challenges to
the current primacy of respect for autonomy and patient choice in health
care. It also presents a challenge to approaches to decision-making
emphasising the ethical importance of the consequences of health care
decisions. In this paper a case is described in which respect for
confidentiality calls both for disclosure and non-disclosure, and in
which respect for patient autonomy and the demand to avoid causing harm
each appear to call both for testing without consent, and testing only
with consent. This creates problems not only for clinicians, families
and patients, but also for those who propose clinical bioethics as a
tool for the resolution of such dilemmas. In this paper I propose some
practical ways in which ethical issues in clinical genetics and
elsewhere, might be addressed. In particular I call for a closer
relationship between ethics and communication in health care
decision-making and describe an approach to the ethics consultation that
places particular emphasis on the value of interpersonal deliberation in
the search for moral understanding. I reach these conclusions through an
analysis of the concept of 'moral development' in which I argue that the
achievement of moral understanding is a necessarily intersubjective
project elaborated by moral persons.
25
UI - 11808680
AU - Bennett R
TI -
Antenatal genetic testing and the right to remain in ignorance.
SO - Theor Med Bioeth 2001 Sep;22(5):461-71
AD - School of Law, The University of Manchester, UK.
rebecca.bennett@man.ac.uk
As knowledge increases about the human genome, prenatal genetic testing
will become cheaper, safer and more comprehensive. It is likely that
there will be a great deal of support for making prenatal testing for a
wide range of genetic disorders a routine part of antenatal care. Such
routine testing is necessarily coercive in nature and does not involve
the same standard of consent as is required in other health care
settings. This paper asks whether this level of coercion is ethically
justifiable in this case, or whether pregnant women have a right to
remain in ignorance of the genetic make-up of the fetus they are
carrying. While information gained by genetic testing may be useful for
pregnant women when making decisions about their pregnancy, it does not
prevent harm to future children. It is argued that as this kind of
testing provides information in the interests of the pregnant women and
not in the interests of any future child, the same standards of consent
that are normally required for genetic testing should be required in
this instance.
26
UI - 11718372
AU - Messina C; Cafiso V; Campanile F; Santagati M; Stefani S
TI -
Rapid method for detection of gyrA and grlA mutations in unrelated
strains of Staphylococci susceptible and resistant to levofloxacin.
SO - New Microbiol 2001 Oct;24(4):347-53
AD - Department of Microbiological and Gynaecological Sciences-University of
Catania, Italy.
A panel of 150 clinical isolates of methicillin resistant and
susceptible Staphylococci were investigated using a rapid and simple
PCR-RFLPs technique to detect DNA nucleotide changes at the site of the
most frequently reported mutations in grlA (codons 79, 80) and gyrA
(codons 83, 84) genes which confer fluorquinolone resistance in
Staphylococci. Convergent dual mutations in and gyrA and grlA were found
in all strains exhibiting resistance to ciprofloxacin (MIC, 8 to > or
=128 mg/l) and levofloxacin (MIC, 8 to > or =64 mg/l). Mutations in grlA
and gyrA were also found in strains susceptible to levofloxacin and
resistant to ciprofloxacin. In our sample no strains with only grlA
mutations were found. Our data indicate that methicillin-resistant
fluorquinolone-resistant strains are likely to have mutations in both
grlA and gyrA. In contrast, methicillin-susceptible strains do not show
any mutation. The genetic relatedness of a sample of representative
epidemiologically unrelated MRSA strains, tested by PFGE and rep-PCR,
are in agreement with the hypothesis of a clonal selection of these
resistant strains.
27
UI - 11706616
AU - Royal Australian College of General Practitioners. National Preventive
TI -
and Community Medicine Committee.
Guidelines for preventive activities in general practice.
SO - Aust Fam Physician 2001 Oct;Spec No():S1i-xvi, S1-1-61
28
UI - 11857617
AU - Bitoun E; Bodemer C; Amiel J; de Prost Y; Stoll C; Calvas P; Hovnanian A
TI -
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5
mutation analysis.
SO - Prenat Diagn 2002 Feb;22(2):121-6
AD - Wellcome Trust Centre for Human Genetics, Oxford, UK.
Netherton syndrome (NS) is a severe autosomal recessive ichthyosis with
no specific treatment or prenatal diagnosis available at present. The
recent identification of SPINK5, which encodes a serine protease
inhibitor, as the defective gene enables DNA based prenatal diagnosis to
be carried out. Here we report the first direct molecular prenatal
diagnosis of a lethal form due to a recurrent SPINK5 mutation in three
consanguineous Turkish families. XmnI restriction enzyme digestion and
DNA sequencing demonstrated that each deceased affected child was
homozygous for mutation 153delT inherited from each parent. Analysis of
fetal DNA from amniotic fluid cells in Family 1 and from a chorionic
villus sampling in Family 3 showed that the fetus was heterozygous for
153delT in both cases. The pregnancies were carried to term and the
newborns were unaffected. In Family 2, fetal DNA analysis from chorionic
villus biopsy showed in a first pregnancy that the fetus was homozygous
for 153delT. The pregnancy was terminated at 13 weeks and DNA analysis
of fetal keratinocytes confirmed the prenatal prediction. In a second
pregnancy in Family 2, fetal DNA analysis showed heterozygosity for
153delT, and the pregnancy was continued. Direct SPINK5 mutation
analysis in families at risk for NS represents the first early, rapid
and reliable method for prenatal diagnosis of this life threatening form
of ichthyosis. Copyright 2002 John Wiley & Sons, Ltd.
29
UI - 11810527
AU - Deguchi T; Yamaha M; Nakano M; Yasuda M; Nishino Y; Ishihara S; Kawada Y
TI -
Development of a rapid assay for screening point mutations associated
with quinolone resistance in the Pseudomonas aeruginosa parC gene.
SO - J Infect Chemother 2000 Mar;6(1):26-9
AD - Department of Urology, Gifu University School of Medicine, 40
Tsukasa-machi, Gifu 500-8705, Japan. deguchit@cc.gifu-u.ac.jp
To detect quinolone resistance-associated mutations within the Ser-80
and Glu-84 codons of the Pseudomonas aeruginosa parC gene, we developed
a rapid and simple assay based on polymerase chain reaction (PCR)
amplification of the region of the parC gene containing the mutation
sites and digestion of the PCR products with a restriction enzyme. The
mutations generating alterations at Ser-80 and Glu-84 were detected as
restriction fragment length polymorphisms of the PCR products digested
with HinfI. Among 22 clinical isolates tested by this assay, mutations
at the Ser-80 and Glu-84 codons were detected in all 10 isolates in
which the presence of the mutations had been confirmed previously by DNA
sequencing. This rapid and simple assay could be a useful screening
device for genetic alterations associated with resistance to quinolones
in the P. aeruginosa parC gene.
30
UI - 11898181
AU - Diefenbach MA; Schnoll RA; Miller SM; Brower L
TI -
Genetic testing for prostate cancer. Willingness and predictors of
interest.
SO - Cancer Pract 2000
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