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HuGENet e-Journal
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“The findings and conclusions in this e-journal abstract are those of the author(s) and do not necessarily represent the views of the funding agency.”
Transforming growth factor beta 1 polymorphism
and breast cancer in older women
June 21, 2001
Abstraction Template
 
Key variables & Description Article

Reference
Complete the bibliographic reference for the article according to AJE format.

Ziv E, Cauley J, Morin PA et al. Association between the T29->C polymorphism in the transforming growth factor beta 1 gene and breast cancer among elderly white women.  JAMA 2001;285:2859-2863

 

Category of HuGE information
Specify the types of information (from the list below) available in the article:

  1. Prevalence of gene variant
  2. Gene-disease association
  3. Gene-environment interaction
  4. Gene-gene interaction
  5. Genetic test evaluation/monitoring

 

  1. Prevalence of gene variant
  2. Gene-disease association

 

Study hypotheses or purpose
The authors study hypotheses or main purpose for conducting the study

 

Hypothesis: A polymorphism in the TGF beta 1 gene is associated with breast cancer in women aged 65 or older.

Gene(s)
Identification of the following:

  1. Gene name
  2. Chromosome location
  3. Gene product/function
  4. Alleles
  5. OMIM #

 

  1. Gene: TGFB1
  2. Chromosome location: 19q13.1
  3. Gene product/function: signaling protein involved in a wide range of cellular processes including suppression of cell proliferation, suppression of inflammatory immune responses and stimulation of angiogenesis
  4. Alleles: LEU10PRO
  5. OMIM #: 190180

Environmental factor(s)
Identification of the major environmental factors studied (infectious, chemical, physical, nutritional, and behavioral)

 

N/A

Health outcome(s)
Identification of the major health outcome(s) studied

 

Breast Cancer

Study design
Specification of the type of study design(s)
  1. Case-control
  2. Cohort 
  3. Cross-sectional
  4. Descriptive or case series
  5. Clinical trial
  6. Population screening

 

Prospective cohort study
Case definition
For study designs 1, 4, and 5, define the following if available:
  1. Disease case definition
  2. Exclusion criteria
  3. Gender
  4. Race/ethnicity
  5. Age
  6. Time period
  7. Geographic location
  8. Number of participants

 

N/A

 

Control definition
For study design 1, define the following if available:
  1. Control selection criteria
  2. Matching variables
  3. Exclusion criteria
  4. Gender
  5. Race/ethnicity
  6. Age
  7. Time period
  8. Geographic location
  9. Number of participants

 

N/A

 

Cohort definition
For study designs 2, 3, and 6, define the following if available:

  1. Cohort selection criteria
  2. Exclusion criteria
  3. Gender
  4. Race/ethnicity
  5. Age
  6. Time period
  7. Geographic location
  8. Number of participants

 

  1. Cohort selection criteria: white, community-dwelling women aged 65 or older at time of recruitment, who were recruited at 4 US centers between 1986 and 1988.
  2. Exclusion criteria: Did not return for second clinic visit, insufficient clinical information, did not consent, no buffy coat sample, history of breast cancer before study onset
  3. Gender: female
  4. Age: at least 65 at time of recruitment (median age 70 at time of study)
  5. Time period: Mean follow-up of 9.3 years (SD 1.9)
  6. Geographic location: US (regions not specified)
  7. Number of participants: 3075 final
Assessment of environment factors
For studies that include gene-environment interactions, define the following, if available:
  1. Environmental factor
  2. Exposure assessment
  3. Exposure definition
  4. Number of participants with exposure data (% of total eligible)

 

  1. Environmental factor 1: 
  2. Exposure assessment: 
  3. Exposure definition: 
  4. Participants with exposure data:  

    Exposure 2:
Genotyping
Specify the following:
  1. Gene
  2. DNA source
  3. Methodology
  4. Number of participants genotyped (% of total eligible) 

 

  1. Gene: TGFB1
  2. DNA source: Buffy coat samples
  3. Methodology: 5' exonuclease assay to detect SNPs
  4. Participants genotyped: 3112 (out of 6795 from whom samples were collected before genotyping consent was obtained or exclusion criteria applied)
Results
Describe the major results under each of the following HuGE categories. Include tables when data are provided:
  1. Prevalence of gene variant
  2. Gene-disease association
  3. Gene-environment interaction
  4. Gene-gene interaction
  5. Genetic test evaluation/monitoring

1. Prevalence of gene variant:

Genotype

Number (%)

No. with breast cancer

C/C

458 (14.9%)

 

10 (6.85%)

 

T/C

1493 (48.6%)

80 (54.8%)

T/T

1124 (36.7%)

56 (38.3%)

2. Gene-disease association (measured from Figure in paper)

Genotype

Cumulative probability of breast cancer after 10 years

C/C

0.025

T/C

0.055

T/T

0.056


Genotype

Hazard ratio relative to T/T

C/C

0.43 (CI 0.22-0.84; P=0.01)

T/C

1.06 (CI 0.75-1.49; P=0.74)

 

Conclusion
State the author's overall conclusions from the study

 

The authors claim that the C/C genotype at the TGFB1 locus is associated with a decreased risk of breast cancer in white women older than 65.

Comments
Provide additional insight, including methodologic issues and/or concerns about the study

N/A

 

Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics