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Abramson Cancer CenterNCI CANCERLIT® Search: Li-Fraumeni Syndrome - January 2002
National Cancer Institute®
Last Modified: January 1, 2002
Table of Contents
1
UI - 11669337
AU - Malmer B; Gronberg H; Andersson U; Jonsson BA; Henriksson R
TI -
Microsatellite instability, PTEN and p53 germline mutations in glioma
families.
SO - Acta Oncol 2001;40(5):633-7
AD - Department of Radiation Science, Oncology, Umea University Hospital,
Sweden. beatrice.malmer@onkologi.umu.se
Rare inherited syndromes that to some extent explain familial glioma
include Turcot's syndrome, Li-Fraumeni syndrome and neurofibromatosis
types I and II. The majority of families with glioma do not meet the
clinical criteria for any of these syndromes. In order to study the
genetic origin of familial glioma, tumour DNA (n = 35) or blood samples
(n = 8) were collected from 25 families. The glioma tumours were tested
for microsatellite instability (MSI) with two markers, BAT25 and BAT26,
since glioma is associated with hereditary non-polyposis colon cancer
(HNPCC) in Turcot's syndrome. Furthermore, p53 was screened from blood
DNA (exons 2-11) with temporal temperature gradient electrophoresis
(TTGE) since germline mutations in p53 are seen in Li-Fraumeni syndrome.
In gliomas, there is a wide variety of somatic mutations, such as, for
instance, in p53, the epidermal growth factor receptor (EGFR) and p16.
The tumour suppressor gene PTEN is also often somatically mutated in
glioma, therefore it is attractive as a candidate gene for germline
mutations in familial glioma. Blood DNA was directly sequenced for
mutations in PTEN exons 1-9. The analysis showed that no mutations were
found in either of the studied tumour suppressor genes, and no
MSI-positive tumours were found. A common polymorphism in p53 at codon
72 (arginine/proline) was found in 6/8 of the patients. Apparently,
mutation in the tested tumour suppressor genes or DNA mismatch repair
genes does not explain the familial glioma observed in these families.
2
UI - 11719428
AU - Lee SB; Kim SH; Bell DW; Wahrer DC; Schiripo TA; Jorczak MM; Sgroi DC;
TI -
Garber JE; Li FP; Nichols KE; Varley JM; Godwin AK; Shannon KM; Harlow
E; Haber DA
Destabilization of CHK2 by a missense mutation associated with
Li-Fraumeni Syndrome.
SO - Cancer Res 2001 Nov 15;61(22):8062-7
AD - Massachusetts General Hospital Cancer Center and Harvard Medical School,
Building 149, 13th Street, Charlestown, MA 02129, USA.
Li Fraumeni Syndrome (LFS) is a multicancer phenotype, most commonly
associated with germ-line mutations in TP53. In a kindred with LFS
without an inherited TP53 mutation, we have previously reported a
truncating mutation (1100delC) in CHK2, encoding a kinase that
phosphorylates p53 on Ser(20). Here, we describe a CHK2 missense
mutation (R145W) in another LFS family. This mutation destabilizes the
encoded protein, reducing its half-life from >120 min to 30 min. This
effect is abrogated by treatment of cells with a proteosome inhibitor,
suggesting that CHK2(R145W) is targeted through this degradation
pathway. Both 1100delC and R145W germ-line mutations in CHK2 are
associated with loss of the wild-type allele in the corresponding tumor
specimens, and neither tumor harbors a somatic TP53 mutation. Our
observations support the functional significance of CHK2 mutations in
rare cases of LFS and suggest that such mutations may substitute for
inactivation of TP53.
3
UI - 11685871
AU - Swisher E
TI -
Hereditary cancers in obstetrics and gynecology.
SO - Clin Obstet Gynecol 2001 Sep;44(3):450-63
AD - University of Washington, Seattle, Washington, USA.
swishere@u.washington.edu
The lack of information regarding the effectiveness of screening
strategies, chemoprevention, or surgical prophylaxis, and the
uncertainty regarding penetrance and risk modification has led many
experts to recommend that genetic testing for BRCA1, BRCA2, and other
cancer susceptibility genes be performed only in a research setting.
Patients, however, are likely to increasingly request access to genetic
testing and deserve up-to-date counseling about recent advancements in
our knowledge. The primary care physician should concentrate on
identifying women likely to be at high-risk for cancer for further
referral, allowing the cancer genetics specialist to track down medical
records, clarify the pedigree, discuss genetic testing, and provide
access to the appropriate cancer specialist to discuss risk reduction.
4
UI - 11742044
AU - Keller G; Hartmann A; Mueller J; Hofler H
TI -
Denaturing high pressure liquid chromatography (DHPLC) for the analysis
of somatic p53 mutations.
SO - Lab Invest 2001 Dec;81(12):1735-7
AD - Institute of Pathology, Department of Surgery, Technische Universitat
Munchen, Munich, Germany. gisela.keller@lrz.tum.de
5
UI - 11786899
AU - Hainaut P
TI -
Tumor-specific mutations in p53: the acid test.
SO - Nat Med 2002 Jan;8(1):21-3
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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