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Genomics
Publications and Materials
Below are
selected publications and materials related to genomics. Please note the
year of publication may be later than the year(s) the data represent.
LINKS ON THIS PAGE
2007 Publications and Materials
2006 Publications and Materials
2005 Publications and Materials
2004 Publications and Materials
2003 Publications and Materials
2002 Publications and Materials
Related
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2007 Publications and Materials
Family History is Important for Your Health
(11/19/07)
At family gatherings during the upcoming holidays, take the time to
talk about your family health history. The earlier you know which
health conditions run in your family, the easier it is to work with
your health provider to reduce your risk. Thanksgiving is National
Family History Day.
2006 Publications and Materials
Genomic Tests for Ovarian Cancer Detection and Management
(11/29/06)http://www.cdc.gov/genomics/gtesting/EGAPP/docs/announcement2006-10-26.htm
A CDC-sponsored evidence report on
Genomic Tests for Ovarian Cancer Detection
and Management has been released by the Agency for Healthcare
Research and Quality. Current strategies for the detection of ovarian cancer
have not proven to be effective; consequently there is tremendous interest
in investigating genomic, proteomic, and other tests to aid in early
detection and management.
2005 Publications and Materials
Genomics
and Population Health, 2005 (11/30/05)
http://www.cdc.gov/genomics/activities/ogdp/2005/letter.htm
CDC continues to collaborate with many partners in government, academia,
professional organizations, consumer and community groups and the private
sector to translate genomic advances for public health use. This report
showcases these collaborations and CDC’s continued work to improve
population health in three major areas: conducting public health genomics
research, evaluating genetic tests for practice, and integrating genomics
into public health practice.
A
Multigene Assay to Predict Recurrence of Tamoxifen-Treated, Node-Negative
Breast Cancer (6/30/05)
http://www.cdc.gov/genomics/hugenet/ejournal/tamoxBRC_2.htm
Using gene expression analysis of breast tumors from women who were treated
with chemotherapy and tamoxifen and who had no lymph node involvement, this
study set out to design a valid and reliable tool for predicting high,
medium, and low likelihood of recurrence. The authors of this study showed
that a recurrence score based on expression of 16 genes in tumor tissue can
be an accurate tool to quantify the likelihood of distant site recurrence in
tamoxifen-treated female patients whose breast cancer was estrogen-receptor
positive and had not spread to the lymph nodes.
Interleukins-1, -4, -6, -10, Tumor Necrosis Factor, Transforming Growth
Factor-[beta], FAS, and Mannose-Binding Protein C Gene Polymorphisms in
Australian Women: Risk of Preterm Birth (4/30/05)
http://www.cdc.gov/genomics/hugenet/ejournal/pretermBirth.htm
This case-control study examined the relationship between preterm birth
before 35 weeks gestation and 22 single nucleotide polymorphisms in genes
that encode inflammatory cytokines and mediators of host defense and
apoptosis. This analysis showed that preterm birth (PTB) at <29 weeks
gestation was associated with the interleukin-4 -590 C/C genotype, the TNF
haplotype +488A/-238G/-308G and MBL2 54Asp. The presence of the IL10
haplotype1082A/-819T/-592A was associated with the risk of PTB < 29 weeks as
well as preterm premature rupture of the membranes (PPROM). Analysis of
demographic factors showed that smoking was associated with preterm birth
<29 weeks gestation. Alcohol use was associated with increased PTB risk at <
35 weeks, <29 weeks and PPROM. Any substance use was associated with PTB
risk at < 35 weeks as well as PPROM. None of these associations were
significant when corrected by the Bonferroni method. The authors concluded
polymorphisms that modulate the immune response might have a role in preterm
birth and PPROM. These findings are preliminary and the impact of this
research on public health remains to be seen.
Insulin-like Growth Factor-I Gene Polymorphism and Breast Cancer Risk in
Chinese Women (4/30/05)
http://www.cdc.gov/genomics/hugenet/ejournal/factorI.htm
Wen et al reported an association of IGFI gene polymorphisms with
breast cancer risk and plasma IGF-I level in Chinese women based on a
population-based case-control study. The study included 1,041 incident
breast cancer cases diagnosed from August 1996 through March 1998 in
Shanghai and 1,086 randomly selected age-matched controls from the general
population. Although no relation between plasma IGF-I levels and IGFI
genotypes was found, the genotypes containing the (CA)17 or (CA)19 allele
were associated with a significantly decreased or increased risk of breast
cancer, respectively, and the genotypes containing any of the 4 rare
alleles, (CA)11, (CA)13, (CA)16 and (CA)23, were associated with a
nonsignificantly increased risk of breast cancer compared with those that
did not carry the specific alleles. These findings could help us to further
understand the relationship between breast cancer and IGF polymorphism in
the biology of breast cancer.
2004 Publications and Materials
Using Family
History to Promote Health: The Surgeon General’s Family History Initiative
(11/30/04)
http://www.cdc.gov/genomics/public/famhistMain.htm
Surgeon General’s Family History
Initiative
http://www.hhs.gov/familyhistory/ (Non-CDC site)
This initiative is a coordinated effort of several agencies to increase
American’s awareness of the importance of family history, to provide
accessible methods for easily obtaining an accurate family history, and to
increase use of the family history in disease prevention and health
promotion. Americans are encouraged to use a web-based tool to collect and
record their family’s health history and to share this information with
their healthcare professional.
Awareness
of Family Health History as a Risk Factor for Disease - United States, 2004
(11/30/04)
http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5344a5.htm
PDF (p. 1044)
http://www.cdc.gov/mmwr/PDF/wk/mm5344.pdf
To assess attitudes, knowledge, and practices of U.S. residents regarding
their family health histories, CDC analyzed data from the 2004 HealthStyles
Survey. This report summarizes the results of that analysis, which indicated
that although 96.3% of survey respondents believe their family history is
important for their own health, few have actively collected health
information from their relatives to develop a family history. Women were
slightly more likely than men to report that family history was very
important to their own health; equal proportions of men and women considered
family history somewhat important. Those who had collected a family health
history were more likely to be female, previously or currently married, and
to have more than a high school education. Respondents with a personal
history of type 2 diabetes were also more likely to have collected health
information from their relatives.
SLC19A1
(RFC1) A80G Polymorphism, Maternal Multivitamin with Folate Use, and
Orofacial and Conotruncal Heart Defects (11/30/04)
http://www.cdc.gov/genomics/hugenet/ejournal/RFC1.htm
This study evaluates an association between a gene other than
methylenetetrahydrofolate involved in the folate metabolic pathway. Although
the findings were only ‘suggestive’ of an interaction between reduced folate
carrier-1genotype and perinatal folic acid intake in association with
conotruncal heart defects, they further support the value of food
fortification with folic acid and maternal periconceptional vitamin use.
Genetics and Disease
Prevention (7/30/04)
http://www.cdc.gov/genomics/public.htm
This web page includes easy-to-understand information about the exciting
and emerging field of genomics. It includes frequently asked questions,
fact sheets, weekly updates, glossary, links and resources, and student
resources.
Genomics
and Population Health- United States, 2003 (5/30/04)
http://www.cdc.gov/genomics/activities/ogdp/2003.htm
The report includes a collection of vignettes of the status of genomics and
population health in the United States, and is intended for public health
professionals who are interested in integrating genomics into health
promotion, disease prevention and healthcare. The report includes chapters
on breast and ovarian cancer, newborn screening, the family history
initiative, coronary heart disease, genomics training, and more.
CYP19,
CYP1A1 Polymorphisms and ER-Positive Breast Cancer (4/30/04)
http://www.cdc.gov/genomics/hugenet/ejournal/CYP19.htm
In an effort to accurately identify candidates for whom tamoxifen would be
beneficial, the authors attempt to identify genetic risk factors for the
estrogen receptor-positive form of breast cancer. Though this information
may not be relevant to the general population, it does appear that these
findings may be a significant source of information for women debating the
use of tamoxifen.
Tea
Intake, COMT Genotype, and Breast Cancer in Asian-American Women
(4/30/04)
http://www.cdc.gov/genomics/hugenet/ejournal/asianBC.htm
While there is much biological evidence to support the plausibility of
interactions between COMT genotype and environmental exposures, there have
been few studies to evaluate these associations. This study provides
evidence of positive interaction between COMT genotype and tea drinking
among Asian-American women. The authors offer their finding as a possible
reason for conflicting results in the risks associated to COMT genotype in
previous studies.
Ovarian Cancer and Polymorphisms in the Androgen and Progesterone Receptor
Genes: A HuGE Review (2/27/04)
http://www.cdc.gov/genomics/hugenet/reviews/ov_cancer.htm
The mounting evidence for a role of both progestins and androgens in
ovarian cancer supports the hypothesis that polymorphisms in the PGR
and AR genes may act as risk factors for ovarian cancer and/or as
modifiers of risk associated with exposure to hormonal factors. However,
the data thus far have been inconclusive. Only two studies have examined
the association of the AR CAG repeat with ovarian cancer, with
contradictory findings. Differences in the study designs may explain these
disparate findings. This suggests a need for large, well-designed studies
specifically aimed at addressing the association of the polymorphism with
ovarian cancer.
Genetic Testing for Breast and Ovarian Cancer Susceptibility: A Public
Health Perspective (2/27/04)
http://www.cdc.gov/genomics/info/perspectives/breastcancer.htm
This page provides facts and resources to public health professionals to
help women and their families understand hereditary breast/ovarian cancer
and the implications of genetic testing for BRCA1 and BRCA2.
2003 Publications and Materials
Unique Lipoprotein Phenotype and Genotype Associated with Exceptional
Longevity (11/20/03)
http://www.cdc.gov/genomics/hugenet/ejournal/lipoprotein.htm
This was a case control study of 213 Ashkenazi Jewish probands with
exceptional longevity (mean age of 98.3 years, SD 5.3 years). This study
suggests that lipoprotein (HDL and LDL) particle size is heritable and
contributes to healthy aging. Persons with increased lipoprotein particle
size had increased homozygosity for the I405V variant of cholesteryl ester
transfer protein as well as lower prevalence of cardiovascular disease,
hypertension, and the metabolic syndrome. On average, women in the study
had particle sizes larger than those in men, which may help explain the
over representation of women in the ranks of those who reach their 100th
birthday. Females represent 80% of this population.
Hormonal Replacement Therapy, Prothrombotic Mutations and the Risk of
Venous Thrombosis
http://www.cdc.gov/genomics/hugenet/ejournal/HR_therapy.htm
Consistent with current literature, the authors found an increased risk for
venous thromboembolism (VTE) among HRT users as well as among the women
with prothrombotic mutations. The results from this study raise concerns
about prescription of HRT for women who are genetically predisposed to
thrombosis. The authors argue that screening for Factor V Leiden in
postmenopausal women and the subsequent withholding of HRT in women tested
positive would prevent 5-25 thrombotic events per year per 10,000 women.
However, because recent evidence suggests that HRT may not help prevent
cardiovascular disease, withholding HRT may be more prudent and more
cost-effective, as the authors point out, in women with other risk factors
for VTE, such as obesity and familial risk.
2002 Publications and Materials
Impact of BRCA1/BRCA2 Mutation Testing on Psychologic Distress in a
Clinic-Based Sample
http://www.cdc.gov/genomics/hugenet/ejournal/BRCA1_2testing.htm
This is an E-Journal Club review from the Human Genome Epidemiology Network
(HuGENeT) of the Schwartz et al article published in J Clin Oncol
2002;20:514-20.
Combined COMT and GST Genotypes and Hormone Replacement Therapy Associated
Breast Cancer Risk
http://www.cdc.gov/genomics/hugenet/ejournal/comt_gst.htm
An E-Journal Club review from the Human Genome Epidemiology Network (HuGENeT)
of the Mitrunen et al. article. Includes a detailed abstraction of the
article.
Glutathione S-Transferase Polymorphisms and Risk of Ovarian Cancer
http://www.cdc.gov/genomics/hugenet/reviews/GSTovarian.htm
An increasing number of epidemiologic studies have examined associations
between GSTM1, GSTT1, and GSTP1 and epithelial ovarian cancer. This Human
Genome Epidemiology Network (HUGE Net) review critically evaluates
published studies of these associations and offers suggestions for future
research. This paper will be published with modifications in Genetics in
Medicine July/August 2002.
Genomics: Women’s Health Topics A-Z
http://www.cdc.gov/women/az/genomics.htm
View women’s health resources related to genomics.
Frequently Asked
Questions: Genomics and Disease Prevention
http://www.cdc.gov/genomics/public/faq.htm
Learn answers to frequently asked questions about genomics.
Genetics and
Genomics
http://www.cdc.gov/node.do/id/0900f3ec8000e2b5
Learn more about genetics and genomics.
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This page
last reviewed November 19, 2007
URL: http://www.cdc.gov/women/pubs/genomics.htm
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