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Genes and Other Risk Factors for Second Primary Breast Cancer in Women With Breast Cancer and Their Female Family Members and Friends

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ClinicalTrials.gov Identifier: NCT00896818
Recruitment Status : Unknown
Verified June 2009 by National Cancer Institute (NCI).
Recruitment status was:  Recruiting
First Posted : May 12, 2009
Last Update Posted : August 26, 2013
Information provided by:
National Cancer Institute (NCI)

Brief Summary:

RATIONALE: Studying samples of blood, urine, and tumor tissue in the laboratory from patients with cancer and their female relatives and friends may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.

PURPOSE: This research study is looking at genes and other risk factors for second primary breast cancer in women with breast cancer and in their female family members and friends.

Condition or disease Intervention/treatment
Breast Cancer Genetic: DNA analysis Genetic: genetic linkage analysis Genetic: loss of heterozygosity analysis Genetic: polymorphism analysis Other: laboratory biomarker analysis Other: medical chart review Other: questionnaire administration

Detailed Description:


  • To identify new breast cancer susceptibility alleles in breast cancer patients and family controls.
  • To compare the prevalence of known polymorphisms in genes involved in hormonal activation and degradation pathways in breast cancer patients and family controls.
  • To correlate these polymorphisms with quantitative intermediate markers of susceptibility to breast cancer, such as circulating hormone levels and mammographic density.
  • To perform linkage analysis to detect new susceptibility genes in larger multiple-case families combined with data on families previously collected by the Institute of Cancer Research.
  • To evaluate the relationship between these polymorphisms and hormone levels in relatives and family controls.
  • To compare average hormone levels in patients' unaffected first-degree relatives with family controls using urine samples from premenopausal women and urine and/or serum samples from postmenopausal women.
  • To perform follow-up in a cohort of unaffected first-degree relatives at moderate-to-high risk of developing breast cancer with prospective questionnaire data and hormone measurements.

OUTLINE: Unaffected and affected first-degree female relatives and family or friend controls undergo blood sample collection once during study. Genomic DNA is purified from the blood samples for genetic analyses. Within a cohort of unaffected first-degree relatives, postmenopausal women also provide a single urine sample for hormonal assays. Hormones analyzed in the serum and/or urine of postmenopausal women include estradiol, estrone, sulphate, prolactin, androstenedione, testosterone, progesterone, 17-hydroxyprogesterone, and SHBG. Unaffected premenopausal women within the cohort provide urine samples on 6 successive days around the midpoint of their menstrual cycle and on one day towards the luteal phase of their menstrual cycle. These samples are analyzed for luteinizing hormone and metabolites of estradiol and progesterone (i.e., creatinine ratios for estrone glucuronide and pregnanediol glucuronide).

Access to case notes, mammograms, and archival tumor blocks and accompanying pathology reports of breast cancer patients and their affected relatives is requested. When tumor samples from both tumors in bilateral cases are available, these samples are analyzed to identify regions of loss of heterozygosity in which both tumors have lost the same chromosomal region.

Cancer patients and controls, including affected or unaffected first-degree relatives, relatives by marriage, or friends complete a questionnaire at baseline to provide information on demographics (i.e., personal and family), cancer diagnosis and treatment (if applicable), and known risk factors for breast cancer (i.e., lifestyle, reproductive behavior, and family history).

Study participants may be followed periodically for cancer incidence and cause-specific mortality.

Peer Reviewed and Funded or Endorsed by Cancer Research UK.

Study Type : Observational
Official Title: The British Breast Cancer Study - National Cancer Research Network Cohort (BBC-NCRN)
Study Start Date : January 2005
Estimated Primary Completion Date : January 2009

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Primary Outcome Measures :
  1. Prevalence of polymorphisms in candidate genes in contralateral patients and controls
  2. Prevalence of alleles in breast cancer patients from multiple-case families and those in blood-unrelated family controls
  3. Linkage analysis to detect new susceptibility genes in larger multiple-case families combined with data on families previously collected by the Institute of Cancer Research
  4. Relationships between candidate gene polymorphisms and hormone levels in relatives and controls

Secondary Outcome Measures :
  1. Average hormone levels in contralateral patients' first-degree relatives and controls

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes


  • Meets 1 of the following criteria:

    • Women who have been diagnosed with contralateral or unilateral breast cancer
    • Family controls, including sisters and adult daughters of contralateral cases, female relatives by marriage
    • Unrelated controls (i.e., friends)
  • Hormone receptor status not specified


  • Pre- or postmenopausal


  • Not specified

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00896818

United Kingdom
London School of Hygiene and Tropical Medicine Recruiting
London, England, United Kingdom, WC1E 7HT
Contact: Julian Peto, MD    44-20-7927-2632    julian.peto@lshtm.ac.uk   
Sponsors and Collaborators
Cancer Research UK
Principal Investigator: Julian Peto, MD London School of Hygiene and Tropical Medicine

ClinicalTrials.gov Identifier: NCT00896818     History of Changes
Other Study ID Numbers: CDR0000592728
First Posted: May 12, 2009    Key Record Dates
Last Update Posted: August 26, 2013
Last Verified: June 2009

Keywords provided by National Cancer Institute (NCI):
breast cancer

Additional relevant MeSH terms:
Breast Neoplasms
Neoplasms by Site
Breast Diseases
Skin Diseases