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NCI CANCERLIT® Search: Hereditary Melanoma - March 2002
National Cancer Institute®
Last Modified: March 1, 2002
Table of Contents
1
UI - 11857383
AU - Iscovich J; Abdulrazik M; Cour C; Fischbein A; Pe'er J; Goldgar DE
TI -
Prevalence of the BRCA2 6174 del T mutation in Israeli uveal melanoma
patients.
SO - Int J Cancer 2002 Mar 1;98(1):42-4
AD - Selikoff Center for Environmental Health and Human Development and the
International Fertility Institute, Ra'anana, Israel.
iscovich@netvision.net.il
Substantial differences exist in the incidence rates of uveal melanoma
(UM) among Israeli Jewish subpopulations: high in immigrants from North
America and Europe (Ashkenazic) and low in immigrants from Africa and
Asia (Sepharadic). This trend persists in Israeli-born individuals when
stratified by their ancestral place of birth. There have been several
anecdotal reports of uveal melanoma occurring in breast cancer families
with mutations in the BRCA2 gene as well as one systematic study
reporting BRCA2 mutations in UM. A single BRCA2 mutation, 6174 del T,
occurs in about 1% of the Ashkenazic population and rarely in
non-Ashkenazic. To assess the contribution of this germline mutation to
uveal melanoma in Jewish Israeli patients, we tested this relationship
through analysis of blood samples from a series of UM patients. A total
of 153 cases (84 female, 69 male) were available for study, which
represents 30% of all cases of UM diagnosed in Israel during the period
1984-1999 (82% for the period 1992-1999). Of the 143 UM patients for
which a result could be obtained (4 due to refusals, 6 due to damage to
the blood sample), 4 (2.8%, 95% confidence interval [CI] 0-5.6) carried
the 6174 del T mutation. Assuming a population frequency of the mutation
of 1% as estimated among Ashkenazic Jews in the United States, the
probability of observing 4 or more carriers with the 6174 del T
mutation, assuming no relationship between uveal melanoma and BRCA2, is
0.057. Although our study confirms the relationship between uveal
melanoma and BRCA2, it is clear that the 6174 del T mutation accounts
for only a small fraction of all Israeli UM cases. Therefore, BRCA2
mutations are likely to account for an even smaller proportion in
populations with low frequencies of BRCA2 alterations. Copyright 2001
Wiley-Liss, Inc.
2
UI - 11857391
AU - Youl P; Aitken J; Hayward N; Hogg D; Liu L; Lassam N; Martin N; Green A
TI -
Melanoma in adolescents: a case-control study of risk factors in
Queensland, Australia.
SO - Int J Cancer 2002 Mar 1;98(1):92-8
AD - Queensland Cancer Fund, Brisbane, Australia.
The incidence of melanoma increases markedly in the second decade of
life but almost nothing is known of the causes of melanoma in this age
group. We report on the first population-based case-control study of
risk factors for melanoma in adolescents (15-19 years). Data were
collected through personal interviews with cases, controls and parents.
A single examiner conducted full-body nevus counts and blood samples
were collected from cases for analysis of the CDKN2A melanoma
predisposition gene. A total of 201 (80%) of the 250 adolescents with
melanoma diagnosed between 1987 and 1994 and registered with the
Queensland Cancer Registry and 205 (79%) of 258 age-, gender- and
location-matched controls who were contacted agreed to participate. The
strongest risk factor associated with melanoma in adolescents in a
multivariate model was the presence of more than 100 nevi 2 mm or more
in diameter (odds ratio [OR] = 46.5, 95% confidence interval [CI] =
11.4-190.8). Other risk factors were red hair (OR = 5.4, 95%CI =
1.0-28.4); blue eyes (OR = 4.5, 95%CI = 1.5-13.6); inability to tan
after prolonged sun exposure (OR = 4.7, 95%CI = 0.9-24.6); heavy facial
freckling (OR = 3.2, 95% CI = 0.9-12.3); and family history of melanoma
(OR = 4.0, 95%CI = 0.8-18.9). Only 2 of 147 cases tested had germline
variants or mutations in CDKN2A. There was no association with sunscreen
use overall, however, never/rare use of sunscreen at home under the age
of 5 years was associated with increased risk (OR = 2.2, 95%CI =
0.7-7.1). There was no difference between cases and controls in
cumulative sun exposure in this high-exposure environment. Factors
indicating genetic susceptibility to melanoma, in particular, the
propensity to develop nevi and freckles, red hair, blue eyes, inability
to tan and a family history of the disease are the primary determinants
of melanoma among adolescents in this high solar radiation environment.
Lack of association with reported sun exposure is consistent with the
high genetic susceptibility in this group. Copyright 2001 Wiley-Liss,
Inc.
3
UI - 11792747
AU - Landi MT; Baccarelli A; Tarone RE; Pesatori A; Tucker MA; Hedayati M;
TI -
Grossman L
DNA repair, dysplastic nevi, and sunlight sensitivity in the development
of cutaneous malignant melanoma.
SO - J Natl Cancer Inst 2002 Jan 16;94(2):94-101
AD - Genetic Epidemiology Branch, Division of Cancer Epidemiology and
Genetics, National Cancer Institute, Bethesda, MD 20892-7236, USA.
landim@mail.nih.gov
BACKGROUND: Exposure to UV radiation is associated with cutaneous
malignant melanoma (CMM). In mammalian cells, UV radiation induces DNA
damage that can be repaired by the nucleotide excision repair system. We
designed this case-control study to determine whether DNA repair
capacity (DRC) is associated with the risk of CMM and to identify risk
factors that may interact biologically with DRC in the development of
melanoma. METHODS: Global DRC was measured in lymphocytes with the
host-cell reactivation assay. Data were analyzed by use of multiple
regression models. All statistical tests were two-sided. RESULTS: DRC
could be determined for 132 case patients with incident melanoma and for
145 age- and sex-matched control subjects. No statistically significant
association between melanoma risk and DRC by itself was found (odds
ratio [OR] = 1.0; 95% confidence interval [CI] = 0.6 to 1.7, adjusted
for age, sex, lymphocyte viability, and sample storage time). DRC,
however, strongly influenced CMM risk in individuals with a low tanning
ability or dysplastic nevi. Individuals with a low tanning ability and a
low DRC had a higher risk for CMM (OR = 8.6; 95% CI = 2.7 to 27.5) than
individuals with a higher tanning ability and a high DRC. Likewise,
individuals with dysplastic nevi and a low DRC had a higher relative
risk (OR = 6.7; 95% CI = 2.4 to 18.6) than those lacking dysplastic nevi
and having a high DRC. Subjects with dysplastic nevi and a high DRC had
an intermediate risk. A likelihood-ratio test gave statistically
significant interactions between DRC and tanning response (P =.001) and
between DRC and dysplastic nevus status (P =.04), which were
independently associated with CMM risk. CONCLUSIONS: DRC may modify the
risk for melanoma in the presence of other strong risk factors, such as
a low tanning ability and the presence of dysplastic nevi. The
occurrence of melanoma in subjects without these risk factors appears to
be independent of DRC.
4
UI - 11604998
AU - Ringhoffer M; Schmitt M; Karbach J; Jager E; Oesch F; Arand M
TI -
Quantitative assessment of the expression of melanoma-associated
antigens by non-competitive reverse transcription polymerase chain
reaction.
SO - Int J Oncol 2001 Nov;19(5):983-9
AD - Third Department of Medicine, University of Ulm, D-89081 Ulm, Germany.
The assessment of tumor-associated antigens (TAA) recognized by T
lymphocytes is a prerequisite for diagnosis and immunotherapy of
melanoma. Different reverse transcription-polymerase chain reaction
(RT-PCR) protocols allowing the quantification of the TAA mRNA
expression in the solid tumor or the detection of circulating melanoma
cells have been described. We have recently shown a positive correlation
between the amount of specific product formed by RT-PCR and the staining
intensity in immunohistochemical analysis of the corresponding sample.
Here we describe a quantification procedure based on the direct
digitization of the PCR products after separation on ethidium
bromide-stained agarose gels, followed by computer-assisted
densitometry. To standardize our method, we examined the linear range of
the densitometric quantification procedure as reflected by the
correlation of signal intensity to the amount of the corresponding DNA.
As an internal measure for the so-termed cDNA in the different samples
after RNA isolation and reverse transcription, a beta-actin PCR was
introduced. Subsequently, we chose four sets of primers for the
melanoma-associated antigens MAGE1, tyrosinase, Melan A/MART-1 and
gp100/Pmel17 and performed PCR analysis over a range of cycle numbers.
In each case, the amplification rate remained constant up to at least 26
cycles under the respective conditions. Plotting the logarithm of the
amount of product against the cycle number yields a slope that equals
the logarithm of the amplification rate. The amount of starting material
can be determined from the intercept with the ordinate. In summary, the
method introduced in the present work allows the quantification of TAA
in melanoma which might be important for the monitoring of disease.
Technically the method is sound and sensitive, avoids post-PCR
manipulations and can be performed with the standard equipment of a
molecular biology laboratory. It can be applied also to other solid
tumors and leukemias.
5
UI - 11844832
AU - Ellerhorst JA; Prieto VG; Ekmekcioglu S; Broemeling L; Yekell S; Chada
TI -
S; Grimm EA
Loss of MDA-7 expression with progression of melanoma.
SO - J Clin Oncol 2002 Feb 15;20(4):1069-74
AD - Department of Molecular and Cellular Oncology, The University of Texas
M.D. Anderson Cancer Center, Houston, TX 77030-4095, USA.
jaellerh@mail.mdanderson.org
PURPOSE: Ectopic transfer of the melanoma differentiation-associated
gene-7 (mda-7) has been shown in vitro to suppress growth and induce
apoptosis in a variety of human tumor cell lines; similar effects are
not elicited in normal cells. Thus, the mda-7 gene seems to function as
a novel tumor suppressor, and there is interest in the potential of
mda-7 gene transfer as cancer therapy. The objective of this study was
to determine if MDA-7 protein is lost during primary melanoma
progression from superficial to invasive stages and from localized to
metastatic tumor. As a secondary objective, we analyzed MDA-7 protein
expression in primary melanomas for correlation with predictors of
outcome and with survival. MATERIALS AND METHODS: MDA-7 protein
expression was evaluated by immunohistochemistry in 41 primary melanomas
and 41 metastases, including 24 paired samples. Each sample was scored
for the percentage of positive cells and the overall intensity of
immunolabeling. RESULTS: Significant decreases in MDA-7 immunostaining,
reflected in both number and intensity scores, were observed when
comparing the intraepidermal and superficially invasive portions with
the deeply invasive portions of primary tumors. Significant differences
were also observed when comparing primary tumors to paired metastases.
CONCLUSION: Downregulation of MDA-7 expression in primary melanomas
facilitates progression to invasive and metastatic stages. These data
support the development of Ad-mda7 as gene therapy for advanced
melanoma.
6
UI - 11783086
AU - Cai S; Leng X; Wang Y
TI -
[Expression of two types of melanoma antigens in hepatocellular
carcinoma]
SO - Zhonghua Zhong Liu Za Zhi 2001 May;23(3):205-7
AD - Surgical Department, People's Hospital, Beijing University, Beijing
100044, China.
OBJECTIVE: To investigate the expression of melanoma antigen MAGE-4 and
MAGE-10 mRNA in Chinese human hepatocellular carcinoma (HCC). METHODS:
The expression of MAGE-4 and MAGE-10 mRNA in HCC tissues and the
adjacent non-HCC liver tissues was studied using RT-PCR in 48 samples of
HCC. Ten samples of cirrhosis and 10 samples of normal liver tissues
were examined. The PCR products were sequenced. RESULTS: Of the 48 HCC
samples studied, 15 (31.3%) and 14 (29.2%) expressed MAGE-4 and MAGE-10
mRNA respectively. In contrast, none of the HCC adjacent non-tumorous
liver tissues were MAGE-4 and MAGE-10 mRNA detectable. Nor did liver
tissues from cirrhosis and normal liver samples. The expression of the
two genes in HCC showed no correlation with the serum level of AFP and
the tumor size. CONCLUSION: MAGE-4 and MAGE-10 mRNA are specifically
expressed in Chinese HCC samples.
7
UI - 11833005
AU - Kanetsky PA; Swoyer J; Panossian S; Holmes R; Guerry D; Rebbeck TR
TI -
A polymorphism in the agouti signaling protein gene is associated with
human pigmentation.
SO - Am J Hum Genet 2002 Mar;70(3):770-5
AD - Department of Biostatistics and Epidemiology, University of
Pennsylvania, Philadelphia, PA 19104-6021, USA.
pkanetsk@cceb.med.upenn.edu
In mice and humans, binding of alpha-melanocyte--stimulating hormone to
the melanocyte-stimulating--hormone receptor (MSHR), the protein product
of melanocortin-1 receptor (MC1R) gene, leads to the synthesis of
eumelanin. In the mouse, ligation of MSHR by agouti signaling protein
(ASP) results in the production of pheomelanin. The role of ASP in
humans is unclear. We sought to characterize the agouti signaling
protein gene (ASIP) in a group of white subjects, to assess whether ASIP
was a determinant of human pigmentation and whether this gene may be
associated with increased melanoma risk. We found no evidence of
coding-region sequence variation in ASIP, but detected a g.8818A-->G
polymorphism in the 3' untranslated region. We genotyped 746
participants in a study of melanoma susceptibility for g.8818A-->G, by
means of polymerase chain reaction and restriction fragment--length
polymorphism analysis. Among the 147 healthy controls, the frequency of
the G allele was.12. Carriage of the G allele was significantly
associated with dark hair (odds ratio 1.8; 95% confidence interval [CI]
1.2--2.8) and brown eyes (odds ratio 1.9; 95% CI 1.3--2.8) after
adjusting for age, gender, and disease status. ASIP g.8818A-->G was not
associated independently with disease status. This is the first report
of an association of ASIP with specific human pigmentation
characteristics. It remains to be investigated whether the interaction
of MC1R and ASIP can enhance prediction of human pigmentation and
melanoma risk.
8
UI - 11579965
AU - Takahashi T; Kazama Y; Shimizu H; Yoshimoto M; Tsujisaki M; Imai K
TI -
Brain metastases of malignant melanoma showing unbalanced whole arm
chromosomal translocations der (8; 14) (q10; q10) and der (11; 15) (q10;
q10) in a Japanese patient.
SO - Intern Med 2001 Sep;40(9):956-60
AD - Second Department of Internal Medicine, Tenshi Hospital, Sapporo.
Since malignant melanoma is a rare malignancy in Japan, little is known
about the cytogenetic abnormalities in Japanese patients. We report a
case of malignant melanoma showing complex chromosomal abnormalities. A
70-year-old woman was admitted to our hospital because of anorexia,
delirium, and right hemiplegia. Cranial CT disclosed several metastatic
brain tumors. Multiple subcutaneous and intra-abdominal metastases were
also found. A diagnosis of metastatic malignant melanoma was made by
biopsy of a subcutaneous tumor. Chromosomal analysis of the tumor cells
disclosed complex karyotypic abnormalities including novel unbalanced
whole arm translocations der (8; 14) (q10; q10) and der (11; 15) (q10;
q10).
9
UI - 11751501
AU - Indsto JO; Cachia AR; Kefford RF; Mann GJ
TI -
X inactivation, DNA deletion, and microsatellite instability in common
acquired melanocytic nevi.
SO - Clin Cancer Res 2001 Dec;7(12):4054-9
AD - Westmead Institute for Cancer Research, University of Sydney at Westmead
Millennium Institute, Darcy Road, Westmead, New South Wales 2145,
Australia. James_Indsto@wmi.usyd.edu.au
We have investigated several molecular characteristics of common
acquired melanocytic nevi to clarify their relationship to malignant
melanoma, which is characterized by clonality and the progressive
accumulation of DNA deletions. Twenty-four common acquired nevi were
subjected to analysis for loss of heterozygosity at four loci on
chromosome 9p and six loci on 10q that are commonly deleted in melanoma,
but no deletions were seen. X inactivation analysis was performed in
lesions from females, using the methylation-sensitive restriction HpaII
site in the CAG microsatellite repeat (HUMARA) in exon 1 of the androgen
receptor (AR) gene. In 14 melanomas, 11 (92%) were confirmed to have
skewed X inactivation, consistent with monoclonality, as were 16 (80%)
of 20 benign nevi. One nevus (5%) and 4 (33%) of 12 melanomas also
showed loss of heterozygosity at HUMARA. One nevus showed an additional
allele, consistent with low level microsatellite instability, at one of
the 11 loci that were examined. Common melanocytic nevi, therefore,
arise by apparently clonal proliferation, but they do not share
chromosomal deletions that are characteristic of melanoma. However,
skewed X inactivation patterns were seen in some samples of adjacent
microdissected normal epidermis.
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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