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NCI CANCERLIT® Search: Genetic Counseling and Screening - June 2002
National Cancer Institute®
Ultima Vez Modificado: 1 de junio del 2002
- Differences among the polyadenylated RNA sequences of human leucocyte populations: an approach to the objective classification of human
- Preparation of single chain variable fragment of MG(7) mAb by phage display technology.
- Share the risk: revealing the secrets of our genes to insurers doesn't add up.
- Premium genes.
- Appraising organised screening programmes for testing for genetic susceptibility to cancer.
- [Hereditary cancer: identification, genetic heterogeneity, medico-genetic consult]
- Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population.
- Genetic testing for cancer predisposition--an ongoing debate.
- Genetic testing for hereditary disease: attending to relational responsibility.
- Genetic analysis of multiple sclerosis.
- Insights into genetic testing for colon cancer: the nurse practitioner role.
- Pharmacogenetics: the ethical context.
- Genetic susceptibility to malignant diseases--ethical issues. Minireview.
- High frequency of leukemic clones in newborn screening blood samples of children with B-precursor acute lymphoblastic leukemia.
- Mutations of Chk2 in primary hematopoietic neoplasms.
- The contribution of inherited factors to the clinicopathological features and behavior of breast cancer.
- [Hereditary ovarian cancer]
- The ethical implications of the Human Genome Project for the workplace.
- The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes.
- [Cost-effectiveness of screening in familial adenomatous polyposis]
- Screening for core binding factor gene rearrangements in acute myeloid leukemia.
- Germline BRCA2 mutation in a patient with fallopian tube carcinoma: a case report.
- Worry and attitude of men in at-risk families for prostate cancer about genetic susceptibility and genetic testing.
- Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners.
- BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.
- Searching for targets: the power of somatic cell genetics.
- Protecting genetic difference.
- Pate v. Threlkel.
- Pate v. Threlkel.
- Genetic counselling: evolution or involution?
- [Prophylactic total thyroidectomy in children and adolescents with genetic mutations in the RET-protooncogene.]
- Polymorphisms of chromogranin B gene associated with schizophrenia in Chinese Han population.
- Testing for genetic traits: the need for a new legal doctrine of informed consent.
- Genetics and ethics.
- Human genome mapping: a Jewish perspective.
- When racial sensitivities clash with research.
- A change in policy: genetic testing threatens to fundamentally alter the whole notion of insurance.
- Benign mental health consequences of screening for mutations of BRCA1/BRCA2.
- Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.
- GeneTests-GeneClinics: genetic testing information for a growing audience.
- Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.
- Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11
- Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.
Table of Contents
1
UI - 11894916
AU - Wiedemann LM; Burns JH; Birnie GD
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.
2
UI - 11819819
AU - Yu ZC; Ding J; Nie YZ; Fan DM; Zhang XY
TI -
Preparation of single chain variable fragment of MG(7) mAb by phage
display technology.
SO - World J Gastroenterol 2001 Aug;7(4):510-4
AD - Department of Gastroenterology, Xijing Hospital, Fourth Military Medical
University, Xi'an 710032, Shaanxi Province, China.
AIM: To develop the single chain variable fragment of MG MG(7)murine
anti-human gastric cancer monoclonal antibody using the phage display
technology for obtaining a tumor-targeting mediator. METHODS: mRNA was
isolated from MG MG(7) producing murine hybridoma cell line and
converted into cDNA. The variable fragments of heavy and light chain
were amplified separately and assembled into ScFv with a specially
constructed DNA linker by PCR. The ScFvs DNA was ligated into the
phagmid vector pCANTAB5E and the ligated sample was transformed into
competent E. Coli TG1. The transformed cells were infected with M13K07
helper phage to form MG MG(7) recombinant phage antibody library. The
volume and recombinant rate of the library were evaluated by means of
bacterial colony count and restriction analysis. After two rounds of
panning with gastric cancer cell line KATO III of highly expressing
MG(7)-binding antigen, the phage clones displaying ScFv of the antibody
were selected by ELISA from the enriched phage clones. The
antigen-binding affinity of the positive clone was detected by
competition ELISA. HB2151 E. Coli was transfected with the positive
phage clone demonstrated by competition ELISA for production of a
soluble form of the MG(7) ScFv. ELISA assay was used to detect the
antigen-binding affinity of the soluble MG(7) ScFv. Finally, the
relative molecular mass of soluble MG(7) ScFv was measured by SDS-PAGE.
RESULTS: The V(H), V(L) and ScFv DNAs were about 340bp, 320bp and 750bp,
respectively. The volume of the library was up to 2 X 10(6) and 8 of 11
random clones were recombinants. Two phage clones could strongly compete
with the original MG(7) antibody for binding to the antigen expressed on
KATO III cells. Within 2 strong positive phage clones, the soluble MG(7)
ScFv from one clone was found to have the binding activity with KATO III
cells. SDS-PAGE showed that the relative molecular weight of soluble
MG(7) ScFv was 32. CONCLUSION: The MG(7) ScFv was successfully produced
by phage antibody technology, which may be useful for broadening the
scope of application of the antibody.
3
UI - 11995721
AU - Anonymous
TI -
Share the risk: revealing the secrets of our genes to insurers doesn't
add up.
SO - New Sci 2000 Oct 21;168(2261):3
4
UI - 11995722
AU - Young E
TI -
Premium genes.
SO - New Sci 2000 Oct 21;168(2261):7
5
UI - 11348918
AU - Goel V
TI -
Appraising organised screening programmes for testing for genetic
susceptibility to cancer.
SO - BMJ 2001 May 12;322(7295):1174-8
AD - Department of Health Administration, McMurrich Building, Toronto,
Ontario, Canada M5S 1A8. vivek.goel@utoronto.ca
6
UI - 11676250
AU - Gar'kavtseva RF; Kazubskaia TP; Liubchenko LN; Kozlova SI; Belev NF;
TI -
Sel'chuk VIu
[Hereditary cancer: identification, genetic heterogeneity,
medico-genetic consult]
SO - Vestn Ross Akad Med Nauk 2001;(9):27-33
The paper deals with a role of inherited factors responsible for the
occurrence of malignant tumors. Inherited types of cancer are shown to
occur virtually at its sites and averaged 5-15%. Formalized criteria for
identifying inherited cancer diseases and their etiological and genetic
heterogeneity are presented. A role of genes that genetically predispose
to particular forms of cancer is shown, which allows for early
(preclinical) diagnosis and prevention of cancer diseases.
7
UI - 11920200
AU - Badens C; di Montemuros FM; Thuret I; Michel G; Mattei JF; Cappellini
TI -
MD; Lena-Russo D
Molecular basis of haemoglobinopathies and G6PD deficiency in the
Comorian population.
SO - Hematol J 2000;1(4):264-8
AD - Centre d'Enseignement et de Recherche en Genetique Medicale, Hopital
d'enfants de la Timone, Marseilles, France. badens@medecine.univ-mrs.fr
INTRODUCTION: The Comoro archipelago is characterised by a high
prevalence of red cell genetic disorders such as G6PD deficiency and
haemoglobinopathies, being a region endemic for malaria. Over the last
15 years, the city of Marseilles in France has become the main
destination for Comorian immigrants. This Comorian community includes
patients with sickle cell disease, sickle cell/beta-thalassaemia trait,
thalassaemias and G6PD deficiency. MATERIALS AND METHODS: Allele
frequencies for haemoglobin S, beta-thalassaemia and G6PD deficiency
were determined from neonatal and prenatal screenings of the Comorian
community. Haemoglobin fractions were detected by
isoelectrofocalisation, and the quantitation of HbS, HbA, HbA(2) and HbF
was performed by cation exchange high performance liquid chromatography.
The molecular study involved 31 alleles carrying the betaS mutation (Cd
6 [A-->T]), six beta-thalassaemic alleles and 17 G6PD-deficient alleles,
selected from a group of carriers or affected subjects. RESULTS: Allele
frequencies were 3% for haemoglobin S, 1% for beta-thalassaemia trait
and 9.5% for G6PD deficiency. Molecular analysis had revealed that the
African alleles are predominant, being present in almost all the
subjects studied. Mediterranean alleles were found for all the
beta-thalassaemia mutations and for three G6PD chromosomes out of 17.
CONCLUSION: These data are consistent with the mixed Arab and African
origin of the population of the Comoro Islands, and are of clinical
interest in prenatal and newborn screening plans.
8
UI - 11905664
AU - Muller H; Eeles RA; Wildsmith T; McGleenan T; Friedman S
TI -
Genetic testing for cancer predisposition--an ongoing debate.
SO - Lancet Oncol 2000 Oct;1():118-24
AD - Division of Medical Genetics UKBB, Department of Clinical-Biological
Sciences, Basel, Switzerland. Hansjakob.Mueller@unibas.ch
9
UI - 12026741
AU - Burgess MM; d'Agincourt-Canning L
TI -
Genetic testing for hereditary disease: attending to relational
responsibility.
SO - J Clin Ethics 2001 Winter;12(4):361-72
AD - Centre for Applied Ethics, University of British Columbia, Vancouver,
British Columbia. mburgess@ethics.ubc.ca
10
UI - 11937005
AU - Compston A; Sawcer S
TI -
Genetic analysis of multiple sclerosis.
SO - Curr Neurol Neurosci Rep 2002 May;2(3):259-66
AD - University of Cambridge Neurology Unit, Addenbrooke's Hospital, Hills
Road, Cambridge CB2 2QQ, United Kingdom.
alastair.compston@medschl.cam.ac.uk
The increased recurrence risk within families indicates a role for
genetic factors in the etiology of multiple sclerosis. Genes may
influence susceptibility to the development of multiple sclerosis and
the subsequent course of the disease. To date, associations have only
been demonstrated consistently with class II major histocompatibility
complex (MHC) alleles. The relatively low yield from additional
candidate gene studies is only modestly advanced by several whole-genome
linkage analyses, and by the first in a series of planned whole-genome
linkage disequilibrium screens for allelic associations. The aims of
linkage and association are to narrow the search for chromosomal regions
encoding genes for multiple sclerosis and, with information from the
human gene project, suggest new positional candidates. In time, it is
expected that these genes will include some that confer susceptibility
to the general process of autoimmunity, others that are specific for
multiple sclerosis in all populations, some that act only in defined
ethic groups, and those that determine particular phenotypes or shape
the clinical course. These genetic analyses are predicated on the
assumption that multiple sclerosis is one disease; a major part of
future studies will be to resolve the question of disease heterogeneity
in multiple sclerosis. When eventually in place, the potential of this
genetic knowledge for improved understanding of the pathogenesis of
multiple sclerosis and designing novel treatments is considerable.
11
UI - 11858318
AU - Burrer CV; Bauer SM
TI -
Insights into genetic testing for colon cancer: the nurse practitioner
role.
SO - Clin Excell Nurse Pract 2000 Nov;4(6):349-55
AD - Department of Nursing, Worcester State College, Massachusetts
01602-2597, USA. cburrer@bigfoot.com
As new genetic discoveries continue to gain public awareness, patients
will increasingly call on their nurse practitioners (NPs) to discuss
their inherited susceptibility to disease. Genetic testing for colon
cancer can presently identify gene mutations for 2 inherited forms of
this disease, familial adenomatous polyposis and hereditary nonpolyposis
colorectal cancer, accounting for approximately 6% of the cases. By
identifying patients at high risk for colon cancer, NPs can discuss the
benefits of early detection through screening procedures while helping
patients gain insight into the meaning and impact genetic testing can
have on their lives. This article discusses the basic genetics involved
and screening recommendations for those with a hereditary disposition to
colon cancer. Benefits, risks, and limitations are also considered,
along with the importance of the NP in educating and supporting
individuals in their decision making about genetic testing for colon
cancer.
12
UI - 11908766
AU - Thomas SM
TI -
Pharmacogenetics: the ethical context.
SO - Pharmacogenomics J 2001;1(4):239-42
AD - Nuffield Council on Bioethics, London, UK.
sthomas@nuffieldfoundation.org
13
UI - 12044052
AU - Munzarova M
TI -
Genetic susceptibility to malignant diseases--ethical issues.
Minireview.
SO - Neoplasma 2002;49(1):1-4
AD - Institute of Medical Ethics Medical Faculty, Masaryk University, Brno,
Czech Republic. mmunzar@med.muni.cz
Ethical problems connected with genetic testing with the intention of
the measurement of the susceptibility or predisposition to malignant
tumors are presented (respect for autonomy, beneficence, nonmaleficence,
confidentiality, privacy, veracity and truth-telling, informed consent,
right to know, right not to know, informational self-determination,
etc.). Various aspects dealing with ethics of screening and research
projects involving human subjects are discussed as well.
14
UI - 11929791
AU - Taub JW; Konrad MA; Ge Y; Naber JM; Scott JS; Matherly LH; Ravindranath
TI -
Y
High frequency of leukemic clones in newborn screening blood samples of
children with B-precursor acute lymphoblastic leukemia.
SO - Blood 2002 Apr 15;99(8):2992-6
AD - Division of Pediatric Hematology/Oncology, Children's Hospital of
Michigan, Detroit, Michigan 48201, USA. jtaub@med.wayne.edu
The detection of leukemia cells on newborn genetic screening cards
("Guthrie cards") of a small group of patients and several sets of
identical twins developing acute lymphoblastic leukemia (ALL) with
identical phenotypic and chromosomal markers has provided evidence that
childhood ALL cases may arise in utero. We conducted a retrospective
study of a randomly selected group of childhood B-precursor ALL patients
to determine the frequency of the presence of "leukemic" clones
prenatally in ALL cases by testing newborn screening cards. The 17 ALL
patients analyzed had a median age of 46 months (range, 18 months to 13
years) and had median presenting white blood cell (WBC) counts of 10
950/microL (range, 2900-70 300/microL) at diagnosis. A clonal
rearrangement of the immunoglobulin heavy chain (IgH) gene was
identified in diagnostic lymphoblasts and sequenced and patient-specific
primers were used to amplify DNA from blood samples on the patient's
newborn screening cards. Twelve of the 17 (71%) analyzed newborn cards
had detectable IgH rearrangements amplified by seminested polymerase
chain reaction. DNA sequencing confirmed that the IgH rearrangements
detected matched the IgH sequences identified from diagnostic leukemia
cells, indicating the presence of a "leukemic" clone at birth. There
were no differences in age or presenting WBC counts between the cases
with or without positive newborn screening cards. All 6 patients with
hyperdiploid ALL had detectable "leukemic" clones on their cards. The
results of our study support the notion that a high proportion of
childhood B-precursor ALL cases arise in utero, although postnatal
events are also important factors in leukemogenesis.
15
UI - 11949635
AU - Hangaishi A; Ogawa S; Qiao Y; Wang L; Hosoya N; Yuji K; Imai Y; Takeuchi
TI -
K; Miyawaki S; Hirai H
Mutations of Chk2 in primary hematopoietic neoplasms.
SO - Blood 2002 Apr 15;99(8):3075-7
16
UI - 12013534
AU - Foulkes WD; Rosenblatt J; Chappuis PO
TI -
The contribution of inherited factors to the clinicopathological
features and behavior of breast cancer.
SO - J Mammary Gland Biol Neoplasia 2001 Oct;6(4):453-65
AD - Department of Oncology, McGill University, Montreal, Quebec, Canada.
william.foulkes@mcgill.ca
This review is focused on genetic factors that may influence the
development and/or appearance of breast cancer metastases. Over the last
decade there have been significant advances in the understanding of
genetic predisposition to breast cancer. The first breast cancer
predisposing gene to be identified was TP53, and this was followed over
the next 5 years by two more genes, BRCA1 and BRCA2, which from a
population perspective are much more important than TP53. Other rarer
genes have subsequently been identified, but the role of more common,
less penetrant genes in breast cancer susceptibility remains unknown.
Recent work has shown that breast cancers occurring in women carrying
germ-line BRCA1 mutations tend to have clinicopathological features that
are usually associated with a poor prognosis, such as high grade,
estrogen receptor negative status and somatic TP53 mutations. On the
other hand, they are usually ERBB2 negative. Whether or not such tumors
are more or less likely to metastasize, and hence be associated with a
poor outcome, is currently uncertain and has been the subject of much
debate. Here, we outline some of the clinicopathological features of
hereditary breast cancer, discuss the prognostic studies that have been
performed, and introduce some possible new research directions.
17
UI - 11519321
AU - Trifonov I; Todorova M; Uzunova Zh
TI -
[Hereditary ovarian cancer]
SO - Akush Ginekol (Sofiia) 2001;41 Suppl 4():3-7
18
UI - 11902192
AU - Brady T
TI -
The ethical implications of the Human Genome Project for the workplace.
SO - Int J Appl Philos 1995 Summer;10(1):47-56
AD - Business Adminstration Division Head, Holy Family College, Philadelphia,
PA, USA.
19
UI - 11914044
AU - Njajou OT; Vaessen N; Oostra B; Heutink P; Van Duijn CM
TI -
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type
2 diabetes.
SO - Mol Genet Metab 2002 Mar;75(3):290-1
20
UI - 11987021
AU - Jungck M; Sauerbruch T
TI -
[Cost-effectiveness of screening in familial adenomatous polyposis]
SO - Dtsch Med Wochenschr 2002 May 3;127(18):980-1
21
UI - 11986969
AU - Grimwade D
TI -
Screening for core binding factor gene rearrangements in acute myeloid
leukemia.
SO - Leukemia 2002 May;16(5):964-9
22
UI - 10785486
AU - Rose PG; Shrigley R; Wiesner GL
TI -
Germline BRCA2 mutation in a patient with fallopian tube carcinoma: a
case report.
SO - Gynecol Oncol 2000 May;77(2):319-20
AD - Division of Gynecologic Oncology, Center for Human Genetics, Department
of Genetics, University Hospitals of Cleveland, Western Reserve
University, Ohio 44106, USA.
OBJECTIVES: Fallopian tube carcinoma is similar to ovarian and
peritoneal carcinoma with respect to histology, response to
chemotherapy, and prognosis. BRCA germline mutations have been commonly
reported in ovarian and peritoneal carcinoma but rarely in other
gynecologic cancers. METHODS: A patient with fallopian tube carcinoma
and a family history of ovarian carcinoma underwent genetic counseling
and BRCA testing as did her daughter. RESULTS: The patient and her
daughter were found to have a germline BRCA2 mutation. CONCLUSION: Like
a family history of ovarian or peritoneal carcinoma, the occurrence of
fallopian tube cancer should alert the clinician to the possibility of
an abnormality in the breast cancer susceptibility 1 or 2 genes.
Copyright 2000 Academic Press.
23
UI - 11987156
AU - Cormier L; Valeri A; Azzouzi R; Fournier G; Cussenot O; Berthon P;
TI -
Guillemin F; Mangin P
Worry and attitude of men in at-risk families for prostate cancer about
genetic susceptibility and genetic testing.
SO - Prostate 2002 Jun 1;51(4):276-85
AD - Department of Urology, CHU Nancy-Brabois, Vandoeuvre-les-Nancy, France.
l.cormier@chu-nancy.fr
BACKGROUND: The aim of this study was to evaluate worry about genetic
susceptibility and the attitude of men with family history of prostate
cancer (CaP) toward genetic testing. METHODS: Three hundred seventy-five
eligible first-degree relatives (FDR) of men with CaP, were asked to
participate in a screening and to fill out a survey covering the worry
about genetic susceptibility and interest in genetic testing. RESULTS:
Of the 375 candidates contacted, 277 completed the survey, and had
undergone PSA measurement. Sixty-four percent worried a little or not at
all about inherited predisposition to CaP, while the remainder worried a
lot or extremely. The candidates who worried a lot or extremely were men
with high levels of durable anxiety disposition (STAI trait), who had
undergone a previous screening procedure and men with sons. Ninety-eight
percent of men expressed their interest in undergoing genetic testing.
The most motivated candidates to have the test done were men with
several relatives with CaP. CONCLUSIONS: The level of worry about
genetic susceptibility was low and there was a concrete interest in
genetic testing in FDR of men with CaP. This interest increased with the
number of CaP in the family. Copyright 2002 Wiley-Liss, Inc.
24
UI - 8031531
AU - Kotze MJ; Langenhoven E; Theart L; Marx MP; Oosthuizen CJ
TI -
Report on a molecular diagnostic service for familial
hypercholesterolemia in Afrikaners.
SO - Genet Couns 1994;5(1):15-21
AD - Department of Human Genetics, Faculty of Medicine, University of
Stellenbosch, Tygerberg, South Africa.
The development of DNA-based methods for the direct detection of
specific low density lipoprotein receptor (LDLR) gene mutations enabled
us to establish a molecular diagnostic service for familial
hypercholesterolemia (FH). This specialised service is of particular
relevance and can be applied in the Afrikaner population of South
Africa, where a founder gene effect increased the prevalence of FH to
about 5-10 times greater than that found in most other population
groups. Three point mutations in the LDLR gene were shown to account for
approximately 90% of all Afrikaner FH cases. We report on the results
obtained in 354 Afrikaner hyperlipidemics, from 274 unrelated families,
referred for mutation screening-during the four-year period following
the elucidation of the molecular basis of FH in this South African
population group. By screening for the three founder-related LDLR gene
mutations, approximately 50% of referrals were diagnosed as having FH.
Presymptomatic diagnosis of FH by DNA analysis overcame the difficulties
involved in the clinical diagnosis of some heterozygous cases. We could
offer appropriate genetic counselling to FH patients, in addition to
optimal clinical management by clinicians who referred the patients.
Genetic testing has made early diagnosis of FH, including prenatal
diagnosis, a reality.
25
UI - 12039933
AU - Berry DA; Iversen ES Jr; Gudbjartsson DF; Hiller EH; Garber JE; Peshkin
TI -
BN; Lerman C; Watson P; Lynch HT; Hilsenbeck SG; Rubinstein WS; Hughes
KS; Parmigiani G
BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and
prevalence of other breast cancer susceptibility genes.
SO - J Clin Oncol 2002 Jun 1;20(11):2701-12
AD - Department of Biostatistics, University of Texas M.D. Anderson Cancer
Center, Houston, TX 77030-4009, USA. dberry@mdanderson.org
PURPOSE: To compare genetic test results for deleterious mutations of
BRCA1 and BRCA2 with estimated probabilities of carrying such mutations;
to assess sensitivity of genetic testing; and to assess the relevance of
other susceptibility genes in familial breast and ovarian cancer.
PATIENTS AND METHODS: Data analyzed were from six high-risk genetic
counseling clinics and concern individuals from families for which at
least one member was tested for mutations at BRCA1 and BRCA2.
Predictions of genetic predisposition to breast and ovarian cancer for
301 individuals were made using BRCAPRO, a statistical model and
software using Mendelian genetics and Bayesian updating. Model
predictions were compared with the results of genetic testing. RESULTS:
Among the test individuals, 126 were Ashkenazi Jewish, three were male
subjects, 243 had breast cancer, 49 had ovarian cancer, 34 were
unaffected, and 139 tested positive for BRCA1 mutations and 29 for BRCA2
mutations. BRCAPRO performed well: for the 150 probands with the
smallest BRCAPRO carrier probabilities (average, 29.0%), the proportion
testing positive was 32.7%; for the 151 probands with the largest
carrier probabilities (average, 95.2%), 78.8% tested positive. Genetic
testing sensitivity was estimated to be at least 85%, with
false-negatives including mutations of susceptibility genes heretofore
unknown. CONCLUSION: BRCAPRO is an accurate counseling tool for
determining the probability of carrying mutations of BRCA1 and BRCA2.
Genetic testing for BRCA1 and BRCA2 is highly sensitive, missing an
estimated 15% of mutations. In the populations studied, breast cancer
susceptibility genes other than BRCA1 and BRCA2 either do not exist, are
rare, or are associated with low disease penetrance.
26
UI - 11157780
AU - Tlsty TD
TI -
Searching for targets: the power of somatic cell genetics.
SO - Genome Res 2001 Feb;11(2):187-8
AD - Department of Pathology, UCSF Comprehensive Cancer Center, University of
California at San Francisco, San Francisco, California 94143-0506, USA.
ttlsty@itsa.ucsf.edu
27
UI - 11979598
AU - Yesley MS
TI -
Protecting genetic difference.
SO - Berkeley Technol Law J 1998 Spring;13(2):653-65
28
UI - 12041296
AU - Florida. District Court of Appeal, First District
TI -
Pate v. Threlkel.
SO - Wests South Report 1994 Aug 1 (date of decision);640():183-6
29
UI - 12041297
AU - Florida. Supreme Court
TI -
Pate v. Threlkel.
SO - Wests South Report 1995 Jul 20 (date of decision);661():278-82
30
UI - 11878343
AU - Frontali M; Jacopini AG
TI -
Genetic counselling: evolution or involution?
SO - Community Genet 2000 May;3(4):175-8
AD - Instituto di Medicina Sperimentale CNR, Via Fosso del Cavaliere, I-00044
Frascati, Rome (Italy). Marina.Frontali@ims.rm.cnr.it
The need for genetic counselling derives from the peculiarities of
genetic information, as compared to other biomedical tests, with
particular reference to (a) its predictive character; (b) the existing
gap between the ability to diagnose and to treat an inherited disorder,
and (c) the psychological, social and ethical problems that genetic
testing can raise. Counselling is traditionally performed by healthcare
professionals, specifically trained to help individuals to develop ways
of dealing with genetic information and gain a better understanding of
the problems related with it. The growing number of genetic tests (for
rare Mendelian as well as for common disorders), the development of
easier and cheaper molecular techniques, the increasing tendency of
physicians to have recourse to genetic tests, by-passing alternative
diagnostic procedures, are all factors that contribute to the vast
increase in the demand for genetic tests, a demand which is
significantly out of step with the available numbers of trained
counsellors. This paper discusses possible solutions, including the
institution of committees with regulatory powers on genetic testing, the
promotion of studies on models of genetic services, on programmes to
monitor the services currently offered by test providers, and the
expansion of training programmes and of employment opportunities for
genetic counsellors.
31
UI - 11938683
AU - Spinelli C; Puccini M; Bertocchini A; Lima M; Pacini F; Miccoli P
TI -
[Prophylactic total thyroidectomy in children and adolescents with
genetic mutations in the RET-protooncogene.]
SO - Pediatr Med Chir 2002 Jan-Feb;24(1):53-7
AD - Dipartimento di Chirurgica Generale, Universita di Pisa, Via Roma, 67,
Pisa.
Medullary thyroid cancer (C.M.T.) can be a sporadic form generally in
adults or a heredofamilial form where the first symptom appears in
pediatric and adolescent age. The hereditary form can be isolated or
associated with others endocrine neoplasias of type 2: MEN2a (with or
without cutaneous lichen amyloidosis) and MEN2b. The responsible gene of
the transmission has been identified in proto-oncogene RET localized on
chromosome 10. Point form mutations of this proto-oncogene have been
found on exons 10 and 11 in MEN2a and on 16 in MEN2b. In our study on 64
subjects, who belong 11 familiar groups, affected by MEN2a, MEN2b and
familiar C.M.T., underwent a genetic research to look for point form
mutations of proto-oncogene RET with PCR followed by the analysis of
restriction. A genetic mutation has been revealed in 25 subjects: 18
were already known affected by MEN2 and so surgical treated and 7 seemed
healthy (mean age 17.4 years, range 10-25). These 7 patients has been
undergone clinical research and surgical treatment: a total
thyroidectomy associated a lymphectomy of the central compartment. In
all cases the histological exam showed C.M.T. moreover a patient had
metastasis in lymph nodes of the central compartment. Another had
hyperparathyroidism and pheochromocytoma treated with total
thyroidectomy, parathyroidectomy and bilateral laparoscopic
adrenalectomy. The identification in a very early age of carrier
subjects of hill's gene inside an affected family, permits the execution
of a prophylactic total thyroidectomy to prevent the C.M.T.. The
penetrance of this neoplasia in hereditary form is 100%.
32
UI - 11959426
AU - Zhang B; Tan Z; Zhang C; Shi Y; Lin Z; Gu N; Feng G; He L
TI -
Polymorphisms of chromogranin B gene associated with schizophrenia in
Chinese Han population.
SO - Neurosci Lett 2002 May 3;323(3):229-33
AD - Bio-X Life Science Research Center, Shanghai Jiao Tong University,
Shanghai 200030, PR China.
Chromogranin is a widespread family of proteins in the neurosystem,
whose function is guiding the sorting and secretion of neuropeptides.
Using functional and positional evidences, chromogranin B was selected
as a candidate gene for schizophrenia. We systematically screened all
the promoter and exon regions of the gene and detected 15 single
nucleotide polymorphisms (SNPs), among which four SNPs (including two
non-synonymous SNPs) were selected for association analysis. In a cohort
of Chinese Han schizophrenia cases and controls, the results of both the
individual SNPs and the haplotypes of SNPs were significantly positive
(P<0.01). Our results confirm the role of neuropeptides in the
pathogenesis of schizophrenia.
33
UI - 11660778
AU - Cooper EB
TI -
Testing for genetic traits: the need for a new legal doctrine of
informed consent.
SO - MD Law Rev 1999;58(2):346-422
34
UI - 7886138
AU - Schutzer PJ
TI -
Genetics and ethics.
SO - Pharos Alpha Omega Alpha Honor Med Soc 1995 Winter;58(1):26-31
35
UI - 11657950
AU - Halperin M
TI -
Human genome mapping: a Jewish perspective.
SO - Assia Jew Med Ethics 1998 Sep;3(2):30-3
36
UI - 11648053
AU - Lagnado L
TI -
When racial sensitivities clash with research.
SO - Wall St J (East Ed) 1997 Jun 25;():B1, B5
37
UI - 11647719
AU - Jeffrey NA
TI -
A change in policy: genetic testing threatens to fundamentally alter the
whole notion of insurance.
SO - Wall St J (East Ed) 1999 Oct 18;():R15
38
UI - 11840496
AU - Coyne JC; Kruus L; Kagee A; Thompson R; Palmer S; Kruus L
TI -
Benign mental health consequences of screening for mutations of
BRCA1/BRCA2.
SO - Am J Med Genet 2002 Feb 1;107(4):346-9
39
UI - 12048272
AU - Euhus DM; Smith KC; Robinson L; Stucky A; Olopade OI; Cummings S; Garber
TI -
JE; Chittenden A; Mills GB; Rieger P; Esserman L; Crawford B; Hughes KS;
Roche CA; Ganz PA; Seldon J; Fabian CJ; Klemp J; Tomlinson G
Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the
computer model BRCAPRO.
SO - J Natl Cancer Inst 2002 Jun 5;94(11):844-51
AD - The University of Texas Southwestern Medical Center at Dallas,
75390-9155, USA. david.euhus@UTSouthwestern.edu
BACKGROUND: Because BRCA gene mutation testing is costly, occasionally
uninformative, and frequently associated with ethical and legal issues,
careful patient selection is required prior to testing. Estimation of
BRCA gene mutation probability is an important component of pretest
counseling, but the accuracy of these estimates is currently unknown. We
measured the performance of eight cancer risk counselors and of a
computer model, BRCAPRO, at identifying families likely to carry a BRCA
gene mutation. METHODS: Eight cancer risk counselors and the computer
model BRCAPRO estimated BRCA gene mutation probabilities for 148
pedigrees selected from an initial sample of 272 pedigrees. The final
sample was limited to pedigrees with a proband affected by breast or
ovarian cancer and BRCA1 and BRCA2 gene sequencing results unequivocally
reported as negative or positive for a deleterious mutation.
Sensitivity, specificity, negative predictive value, positive predictive
value, and areas under receiver operator characteristics (ROC) curves
were calculated for each risk counselor and for BRCAPRO. All statistical
tests were two sided. RESULTS: Using a greater-than-10% BRCA gene
mutation probability threshold, the median sensitivity for identifying
mutation carriers was 94% (range = 81% to 98%) for the eight risk
counselors and 92% (range = 91% to 92%) for BRCAPRO. Median specificity
at this threshold was 16% (range = 6% to 34%) for the risk counselors
and 32% (range = 30% to 34%) for BRCAPRO (P =.04). Median area under the
ROC curves was 0.671 for the risk counselors (range = 0.620 to 0.717)
and 0.712 (range = 0.706 to 0.720) for BRCAPRO (P =.04). There was a
slight, but not statistically significant, improvement in all counselor
performance measures when BRCAPRO-assigned gene mutation probability
information was included with the pedigrees. CONCLUSIONS: Sensitivity
for identifying BRCA gene mutation carriers is similar for experienced
risk counselors and the computer model BRCAPRO. Because the computer
model consistently demonstrated superior specificity, overall
discrimination between BRCA gene mutation carriers and BRCA gene
mutation noncarriers was slightly better for BRCAPRO.
40
UI - 11968082
AU - Pagon RA; Tarczy-Hornoch P; Baskin PK; Edwards JE; Covington ML;
TI -
Espeseth M; Beahler C; Bird TD; Popovich B; Nesbitt C; Dolan C; Marymee
K; Hanson NB; Neufeld-Kaiser W; Grohs GM; Kicklighter T; Abair C; Malmin
A; Barclay M; Palepu RD
GeneTests-GeneClinics: genetic testing information for a growing
audience.
SO - Hum Mutat 2002 May;19(5):501-9
AD - University of Washington, Seattle, Washington, USA.
The development and usage of two companion NIH-funded genetic testing
information databases, GeneTests (www.genetests.org) and GeneClinics
(www.geneclinics.org), now merged into one web site, reflect the
steadily increasing use of genetic testing and the expanding audience
for genetic testing information. Established in 1993 as Helix, a
genetics laboratory directory of approximately 110 listings, GeneTests
has grown into a database of over 900 tests for inherited diseases, a
directory of over 500 international laboratories, a directory of over
1,000 U.S. and international genetics clinics, and a resource for
educational/teaching materials and reports of summary genetic test data.
GeneClinics, founded in 1997 as an expert-authored, peer-reviewed,
disease-specific knowledge base relating genetic testing to patient
care, has grown steadily, now containing over 130 expert-authored,
peer-reviewed full-text entries relating genetic testing information to
diagnosis, management, and genetic counseling of specific inherited
diseases. In spring 2001 the two databases were merged and in October
2001 the two web sites were merged for the purpose of seamless
navigation into the GeneTests-GeneClinics site (www.genetests.org or
www.geneclinics.org); the GeneClinics knowledge base was renamed
"GeneReviews" to avoid confusion with the U.S. and international clinic
directories. As genetic testing has moved steadily out of research
venues and into routine medical practice, the user audience for these
databases has become international and expansive and includes healthcare
providers, patients, educators, policy makers, and the media. The use of
these combined resources has grown to approximately 3,200 visits/day.
Copyright 2002 Wiley-Liss, Inc.
41
UI - 11968083
AU - Oliveira C; Bordin MC; Grehan N; Huntsman D; Suriano G; Machado JC;
TI -
Kiviluoto T; Aaltonen L; Jackson CE; Seruca R; Caldas C
Screening E-cadherin in gastric cancer families reveals germline
mutations only in hereditary diffuse gastric cancer kindred.
SO - Hum Mutat 2002 May;19(5):510-7
AD - Cancer Genomics Program, Department of Oncology, University of
Cambridge, Hutchison/MRC Research Centre, Addenbrooke's Hospital,
Cambridge, UK.
The International Gastric Cancer Linkage Consortium (IGCLC) predicted
that up to 25% of families fulfilling the criteria for hereditary
diffuse gastric cancer (HDGC) would harbor CDH1 germline mutations. This
was based on observations from the low number of diffuse gastric cancer
families described at the time, and its validation would require
analysis of larger numbers. Here we report the results of germline CDH1
mutation screening in 39 kindred with familial aggregation of gastric
cancer, a subset of which fulfills the criteria defined by the IGCLC for
HDGC. CDH1 germline mutations were detected in four of 11 (36.4%) HDGC
families. No mutations were identified in 63.6% of HDGC families or in
kindred with familial aggregation of gastric cancer not fulfilling
criteria for HDGC. These results add support to the evidence that only
HDGC families harbor germline mutations in CDH1 and that genes other
than CDH1 remain to be identified. Copyright 2002 Wiley-Liss, Inc.
42
UI - 12007222
AU - Herzog JS; Jancis EM; Liao S; Somlo G; Weitzel JN
TI -
Restriction endonuclease fingerprinting enhanced conformation sensitive
gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11
mutations in a high-risk breast cancer cohort.
SO - Hum Mutat 2002 Jun;19(6):656-63
AD - Department of Clinical Cancer Genetics, Beckman Research Institute and
City of Hope (COH) Comprehensive Cancer Center, Duarte, California, USA.
Efficient genetic analysis of large exonic regions containing
heterozygous mutations and common polymorphisms can be difficult. We
have analyzed 30 patients for inherited susceptibility mutations (ISM)
within exon 11 of the BRCA1 gene as part of an ongoing genetic
epidemiological study of high-risk breast cancer (HRBC). A novel
combination of restriction endonuclease fingerprinting (REF) and
conformation sensitive gel electrophoresis (CSGE) was developed for
rapid and efficient screening of mutations. This method (REF-CSGE) was
compared side-by-side with standard CSGE and evaluated for both
efficiency and sensitivity of detection. REF-CSGE detected 100% of the
alterations found by CSGE. However, one variant was only detectable by
REF-CSGE. All samples with variant bands were sequenced to confirm the
nature of the alteration. In total, two small deletions (frameshifts)
and 62 point mutations (60 known polymorphisms and two variants of
unknown significance) were found in our cohort. The majority of the exon
11 polymorphisms detected are inherited as a linked haplotype. Point
mutations that comprise these haplotypes could be simultaneously
detected on a single gel by REF-CSGE, thereby decreasing the number of
sequencing reactions necessary to elucidate heteroduplex patterns seen
on CSGE gels. An analysis of the overall efficiency of both techniques
revealed that REF-CSGE required 67% fewer confirmatory sequencing
reactions, resulting in savings in both reagents and technician time.
Copyright 2002 Wiley-Liss, Inc.
43
UI - 12007223
AU - Gavert N; Yaron Y; Naiman T; Bercovich D; Rozen P; Shomrat R; Legum C;
TI -
Orr-Urtreger A
Molecular analysis of the APC gene in 71 Israeli families: 17 novel
mutations.
SO - Hum Mutat 2002 Jun;19(6):664
AD - Department of Surgery B, Tel Aviv Sourasky Medical Center, Israel.
Familial adenomatous polyposis (FAP) is caused by germline mutations in
the APC gene. This study included 71 Israeli families referred for
molecular analysis of the APC gene. Analysis was performed by the
protein truncation test (PTT) of exon 15, and if negative, by direct
sequencing of exon 1 to 14. Mutations were found in 36 (50.7%) probands.
Mutation detection rates depended on the pattern of referral, such that
among the 40 probands referred from the Service for Hereditary Cancer
the mutation detection rate was 70%, whereas among the 31 probands
referred by other gastroenterologists detection rate was significantly
lower (25.8%). Of the 36 mutations detected, 21 were within exon 15, 13
within exons 1 to 14 and 2 were newly-described splicing mutations in
introns 9 and 14. A relatively high proportion of the mutations was
detected in exon 9 (6/36), five of them newly described. Altogether, we
describe here 17 new mutations. Within the two major ethnic groups in
Israel, patients of Ashkenazi and non-Ashkenazi origin, there was no
significant differences in the mutation detection rate or the
distribution of mutations within the APC gene. No founder mutation was
detected in any of these populations. Our data confirm that higher
detection rates may be expected in patients referred by clinical
services specializing in hereditary colon cancer. These results further
underscore the importance of complete analysis of all exons and
exon/intron boundaries, in order to achieve maximal detection rate in
patients suspected of FAP. Copyright 2002 Wiley-Liss, Inc.
The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search strategy of indexed subject terms. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.
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