Breast CancerNCT00004565
Susceptibility to Breast Cancer
An observational study of Breast Cancer and Healthy, run by National Cancer Institute (NCI) at 1 site in United States.
Trial summary
This study will explore whether different forms, or variants, of genes are related to a person s risk of developing breast cancer. The genes that are looked at have no clinical significance today, and thus will not impact your personal healthcare at this time. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Breast Cancer, Healthy
- How many people
- 737 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Feb 2000to 4 May 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Case Populations:
- Individuals with breast cancer are being ascertained from among the patient population at National Naval Medical Center (NNMC) as well as other referring institutions. Individuals from the Clinical Center may also be eligible. There will be three groups of participants, which include a control group, individuals with a documented history of breast cancer, and individuals identified to be at high risk of developing breast cancer. The purpose of the high risk group is to look for potential similarities and differences between the cancer and control populations that may start to be exhibited in the high risk group. This will potentially allow the research team to identify high risk women by markers of risk. After providing informed consent, individuals are asked to donate a blood sample, undergo nipple fluid sampling, and complete epidemiological, dietary and family history questionnaires and grant access to their medical records. The questionnaires will be completed and/or reviewed by the research team.
- . Individuals with a documented history of invasive breast cancer.
- . Individuals with a documented history of ductal carcinoma in situ.
- Control and High Risk Populations:
- We will use two primary methods for establishing risk status in individuals who are not affected with cancer.
Show all 28Show fewer
- . Individuals found to harbor a mutation in BRCA1 or BRCA2 face up to a 50-85 percent lifetime risk for developing breast cancer as well as an increased risk for ovarian and other cancers that vary dependent on the gene involved. Therefore, individuals with a documented BRCA1 or BRCA2 mutation will be assigned to the high risk population group.
- . For all participants without a history of breast cancer and no documented BRCA1 or BRCA2 mutation, the computerized Pedigree Assessment Tool (PAT) will be used to establish control or high risk group assignment. The PAT is capable of identifying women from families with features suggesting transmission of an autosomal dominant breast cancer susceptibility allele. The PAT is a simple point scoring system which assigns point values for each case of breast or ovarian cancer within a family.
- Pedigree Assessment Tool Scoring System
- Diagnosis Points Assigned
- Breast Cancer at age 50 or higher 3 Breast cancer prior to age 50 4
- Ovarian Cancer at any age 5
- Male Breast Cancer at any age 8
- Ashkenazi Jewish heritage 4
- The PAT score is calculated by adding the points assigned to every family member with a breast or ovarian cancer diagnosis, including 2nd and 3rd degree relatives. A separate score is calculated for both the maternal and paternal lineage and the higher of the 2 scores is assigned to the participant. Validation data from this model demonstrate that the PAT score was more accurate than the modified Gail model at identifying women with a hereditary risk of breast cancer. Area under the ROC curve for the PAT was 0.9625 compared to 0.389 and 0.5861 for 5-year and lifetime Gail estimates respectively. a PAT score of greater than or equal to 8 provided the most accurate discrimination between "high risk" and "not high risk" women with a sensitivity of 100 percent specificity of 93 positive predictive value of 63 percent and negative predictive value of 100 percent.
- Control Populations:
- The control participants have been ascertained from among the low risk screening population, and from non-cancer clinics and practices of the NNMC and must meet both of the following criteria.
- Individuals with no prior history of any malignancy excluding skin cancers (except melanoma) and cervical cancer in situ.
- A PAT score less than 8.
- Gail risk less than 1.67.
- High Risk Population:
- In order for individuals to be in the high-risk for breast cancer group a subject must satisfy criterion 1 AND at least one of criteria 2 through 6.
- Have no prior history of any malignancy excluding skin cancers (except melanoma) and cervical cancer in situ.
- Gail Model - an estimated risk of greater than 1.66 of developing breast cancer over the next five years.
- A documented deleterious mutation in BRCA1 or BRCA2.
- A PAT score greater than or equal to 8 .
- History of lobular carcinoma in situ (LCIS).
- History of atypical lobular or ductal hyperplasia.
Who cannot join
- Inability to give informed consent.
- Individuals with any active infection or superficial inflammation of the breast, or who are currently lactating or who are less than 6 months post-lactation will not be eligible to undergo nipple fluid sampling, however they may still participate in the rest of the study.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
This study will explore whether different forms, or variants, of genes are related to a person s risk of developing breast cancer. The genes that are looked at have no clinical significance today, and thus will not impact your personal healthcare at this time. However, these results may help researchers better understand why some people develop breast cancer and others do not. The study will try to determine:
if people with breast cancer have different gene variants from people without the disease;
Read more
if these genetic differences influence a person s susceptibility to breast cancer when they are exposed to certain environmental substances, such as nicotine and estrogen; and
if breast cancer that occurs in families is related to a grouping of these variants.
The study will also look for certain proteins, cells, or other substances in fluid aspirated (by the use of gentle suction; no needles) from the nipple that might represent a pattern, or "fingerprint," indicating increased risk for breast cancer.
Study participants will complete questionnaires on cancer risk factors, diet, and family history. A small blood sample (3 tablespoons) will be drawn for study of genetic differences between people with breast cancer and people who are cancer-free. Nipple aspirations, a noninvasive method to obtain fluid from a women s breast, will be attempted 4 to 6 times, over a 4 6 week period. For this procedure, the subject places a warm moist towel over the breasts for about 20 minutes. The breasts are then cleansed with a rubbing alcohol pad. The subject compresses the breast with both hands and a small plastic cup is inverted over the breast. Suction is applied to a small syringe (no needles) attached to the cup for about 15 seconds. The procedure may be repeated up to 5 times on each breast. Any drops of fluid obtained from the nipple will be collected in a glass tube.
...
Read the detailed description
Cancer risk, even among those with similar environmental exposures is not uniformly distributed. Although we have been able to identify genetic factors whose variants appear to significantly alter an individual's risk of developing breast cancer (BRCA1 and BRCA2), these genes are likely involved with less than 10% of breast cancer cases. Perhaps more applicable to the general population are genes which, while not directly involved with the oncogenic process, may have variants (polymorphisms) which act indirectly by increasing the risk of an oncogenic change within a cell.
It is the goal of this proposal to look at genes, environment, clinical co-factors, and, if possible, any interactions in breast cancer. The ultimate objective of these studies is to establish an effective way of identifying individuals at greatest risk for cancer. We will evaluate the risk of breast cancer associated with polymorphisms in genes involved in estrogen metabolism and action. We will also evaluate the association of breast density and polymorphisms in genes associated with estrogen metabolism and action. In addition, we will also evaluate nipple aspirate fluid and breast duct lavage fluid as another potential source of promising biomarkers of risk.
- Conditions
- Breast Cancer, Healthy
- Keywords
- Breast Cancer, Genetics, High Risk, Polymorphisms, Susceptibility, Biomarkers, Estrogen, Genes
- Medical subject headings
- Breast Neoplasms, Disease Susceptibility
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Feb 2000 (estimated)
- Study start8 Feb 2000
- Study completion4 May 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Breast CancerStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 737 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Investigators
- Giuseppe Giaccone, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004565
- Sponsor's protocol ID
- 000079
- Other IDs
- 00-C-0079
- Status last verified
- 4 May 2012
- First submitted
- 11 Feb 2000
- Last updated
- 16 Dec 2019
- Results posted
- No
Publications
Rose DP. Hormones and growth factors in nipple aspirates from normal women and benign breast disease patients. Cancer Detect Prev. 1992;16(1):43-51.
PubMed 1551137Petrakis NL. Nipple aspirate fluid in epidemiologic studies of breast disease. Epidemiol Rev. 1993;15(1):188-95. doi: 10.1093/oxfordjournals.epirev.a036104. No abstract available.
PubMed 8405203Wrensch MR, Petrakis NL, King EB, Miike R, Mason L, Chew KL, Lee MM, Ernster VL, Hilton JF, Schweitzer R, et al. Breast cancer incidence in women with abnormal cytology in nipple aspirates of breast fluid. Am J Epidemiol. 1992 Jan 15;135(2):130-41. doi: 10.1093/oxfordjournals.aje.a116266.
PubMed 1536131
Study at a glance
From the registry record, last updated by the sponsor on 16 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Susceptibility to Breast Cancer
- ClinicalTrials.gov ID
- NCT00004565
- Acronym / sponsor ID
- 000079
- Conditions
- Breast Cancer, Healthy
- Keywords
- Breast Cancer, Genetics, High Risk, Polymorphisms, Susceptibility, Biomarkers, Estrogen, Genes
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 737 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 8 Feb 2000
- Study completion
- 4 May 2012
- First posted
- 14 Feb 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will explore whether different forms, or variants, of genes are related to a person s risk of developing breast cancer. The genes that are looked at have no clinical significance today, and thus will not impact your personal healthcare at this time. However, these results may help researchers better understand why some people develop breast cancer and others do not. The study will try to determine:
if people with breast cancer have different gene variants from people without the disease;
if these genetic differences influence a person s susceptibility to breast cancer when they are exposed to certain environmental substances, such as nicotine and estrogen; and
if breast cancer that occurs in families is related to a grouping of these variants.
The study will also look for certain proteins, cells, or other substances in fluid aspirated (by the use of gentle suction; no needles) from the nipple that might represent a pattern, or "fingerprint," indicating increased risk for breast cancer.
Study participants will complete questionnaires on cancer risk factors, diet, and family history. A small blood sample (3 tablespoons) will be drawn for study of genetic differences between people with breast cancer and people who are cancer-free. Nipple aspirations, a noninvasive method to obtain fluid from a women s breast, will be attempted 4 to 6 times, over a 4 6 week period. For this procedure, the subject places a warm moist towel over the breasts for about 20 minutes. The breasts are then cleansed with a rubbing alcohol pad. The subject compresses the breast with both hands and a small plastic cup is inverted over the breast. Suction is applied to a small syringe (no needles) attached to the cup for about 15 seconds. The procedure may be repeated up to 5 times on each breast. Any drops of fluid obtained from the nipple will be collected in a glass tube.
...
Detailed description
Cancer risk, even among those with similar environmental exposures is not uniformly distributed. Although we have been able to identify genetic factors whose variants appear to significantly alter an individual's risk of developing breast cancer (BRCA1 and BRCA2), these genes are likely involved with less than 10% of breast cancer cases. Perhaps more applicable to the general population are genes which, while not directly involved with the oncogenic process, may have variants (polymorphisms) which act indirectly by increasing the risk of an oncogenic change within a cell.
It is the goal of this proposal to look at genes, environment, clinical co-factors, and, if possible, any interactions in breast cancer. The ultimate objective of these studies is to establish an effective way of identifying individuals at greatest risk for cancer. We will evaluate the risk of breast cancer associated with polymorphisms in genes involved in estrogen metabolism and action. We will also evaluate the association of breast density and polymorphisms in genes associated with estrogen metabolism and action. In addition, we will also evaluate nipple aspirate fluid and breast duct lavage fluid as another potential source of promising biomarkers of risk.
Study design
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (28 listed)
- Individuals with breast cancer are being ascertained from among the patient population at National Naval Medical Center (NNMC) as well as other referring institutions. Individuals from the Clinical Center may also be eligible. There will be three groups of participants, which include a control group, individuals with a documented history of breast cancer, and individuals identified to be at high risk of developing breast cancer. The purpose of the high risk group is to look for potential similarities and differences between the cancer and control populations that may start to be exhibited in the high risk group. This will potentially allow the research team to identify high risk women by markers of risk. After providing informed consent, individuals are asked to donate a blood sample, undergo nipple fluid sampling, and complete epidemiological, dietary and family history questionnaires and grant access to their medical records. The questionnaires will be completed and/or reviewed by the research team.
- . Individuals with a documented history of invasive breast cancer.
- . Individuals with a documented history of ductal carcinoma in situ.
- We will use two primary methods for establishing risk status in individuals who are not affected with cancer.
- . Individuals found to harbor a mutation in BRCA1 or BRCA2 face up to a 50-85 percent lifetime risk for developing breast cancer as well as an increased risk for ovarian and other cancers that vary dependent on the gene involved. Therefore, individuals with a documented BRCA1 or BRCA2 mutation will be assigned to the high risk population group.
Key exclusion criteria (2 listed)
- Inability to give informed consent.
- Individuals with any active infection or superficial inflammation of the breast, or who are currently lactating or who are less than 6 months post-lactation will not be eligible to undergo nipple fluid sampling, however they may still participate in the rest of the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Dec 2019.
- Background: PubMed 1551137Rose DP. Hormones and growth factors in nipple aspirates from normal women and benign breast disease patients. Cancer Detect Prev. 1992;16(1):43-51.
- Background: PubMed 8405203Petrakis NL. Nipple aspirate fluid in epidemiologic studies of breast disease. Epidemiol Rev. 1993;15(1):188-95. doi: 10.1093/oxfordjournals.epirev.a036104. No abstract available.
- Background: PubMed 1536131Wrensch MR, Petrakis NL, King EB, Miike R, Mason L, Chew KL, Lee MM, Ernster VL, Hilton JF, Schweitzer R, et al. Breast cancer incidence in women with abnormal cytology in nipple aspirates of breast fluid. Am J Epidemiol. 1992 Jan 15;135(2):130-41. doi: 10.1093/oxfordjournals.aje.a116266.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Giuseppe Giaccone, M.D. principal investigator
National Cancer Institute (NCI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Breast Cancer and Healthy, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 28 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Dec 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00004565, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Dec 2019.