Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
| Status: | Completed |
|---|---|
| Conditions: | Breast Cancer, Ovarian Cancer |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | 18 - 100 |
| Updated: | 2/10/2019 |
| Start Date: | June 21, 2002 |
Individuals and families with known or suspected syndromes that include breast, ovarian or
genetically-related cancers are enrolled in this family study, which is a syndrome-specific
sub-set of the long-standing DCEG Human Genetics Program umbrella family studies protocol
(78-C-0039). Cancer outcomes are documented through review of medical, vital, and pathology
records. Selected individuals and family members are asked to complete questionnaires to
assess etiologic risk factors and to undergo clinical evaluations specifically tailored to
the relevant familial syndrome. Study participants are monitored prospectively for the
development of outcomes of interest, typically by means of periodic mail or telephone
contact. In selected instances, subjects may return to the Clinical Center periodically for
study-specific follow-up examinations. Study participants are asked to donate biologic
specimens to be used in the laboratory search for cancer etiology and mechanisms of
carcinogenesis. DNA and serial serum samples will be collected. Tumor tissue will be obtained
whenever feasible.
Clinical genetic testing for tumor susceptibility gene(s) mutations and risk notification
will be offered consistent with ASCO guidelines when reasonable individual cancer risk
estimates can be delivered, and only to those participants who choose to know their
individual genetic status after appropriate education and counseling. The testing will be
conducted exclusively in Clinical Laboratory Improvement Amendments (CLIA)-licensed
laboratories. Clinical genetic testing and risk notification are entirely optional and do not
affect subject eligibility for other aspects of the protocol. A separate consent procedure
and consent form will be used for genetic testing and risk notification.
This protocol, developed in response to recommendations developed by the Clinical Center IRB,
is intended to:
1. Provide a mechanism under which the Clinical Genetics Branch can honor the commitment
made to the members of over 60 hereditary breast/ovarian cancer families which have been
participated in various Human Genetics Program research studies conducted over the past
3 decades to provide genetic counseling,
clinical germline mutation testing, and consultative services now that several of the
major breast/ovarian cancer susceptibility genes have been identified;
2. Provide a mechanism through which new families with various familial syndromes
associated with an increased risk of breast and ovarian cancer can be studied, as
research interests in these syndromes evolve over time; and
3. Create a resource of well-characterized, carefully documented high-risk families to
facilitate the development of new etiologic and translational research studies in the
future.
While we do not offer specific anti-cancer therapy as part of this protocol, we provide
assistance to ensure that study participants who require treatment for problems that develop
during the course of the study are referred to appropriate health providers. We
remain available to provide advice and consultation related to the management of the familial
cancer syndrome to study participants and their health care providers.
genetically-related cancers are enrolled in this family study, which is a syndrome-specific
sub-set of the long-standing DCEG Human Genetics Program umbrella family studies protocol
(78-C-0039). Cancer outcomes are documented through review of medical, vital, and pathology
records. Selected individuals and family members are asked to complete questionnaires to
assess etiologic risk factors and to undergo clinical evaluations specifically tailored to
the relevant familial syndrome. Study participants are monitored prospectively for the
development of outcomes of interest, typically by means of periodic mail or telephone
contact. In selected instances, subjects may return to the Clinical Center periodically for
study-specific follow-up examinations. Study participants are asked to donate biologic
specimens to be used in the laboratory search for cancer etiology and mechanisms of
carcinogenesis. DNA and serial serum samples will be collected. Tumor tissue will be obtained
whenever feasible.
Clinical genetic testing for tumor susceptibility gene(s) mutations and risk notification
will be offered consistent with ASCO guidelines when reasonable individual cancer risk
estimates can be delivered, and only to those participants who choose to know their
individual genetic status after appropriate education and counseling. The testing will be
conducted exclusively in Clinical Laboratory Improvement Amendments (CLIA)-licensed
laboratories. Clinical genetic testing and risk notification are entirely optional and do not
affect subject eligibility for other aspects of the protocol. A separate consent procedure
and consent form will be used for genetic testing and risk notification.
This protocol, developed in response to recommendations developed by the Clinical Center IRB,
is intended to:
1. Provide a mechanism under which the Clinical Genetics Branch can honor the commitment
made to the members of over 60 hereditary breast/ovarian cancer families which have been
participated in various Human Genetics Program research studies conducted over the past
3 decades to provide genetic counseling,
clinical germline mutation testing, and consultative services now that several of the
major breast/ovarian cancer susceptibility genes have been identified;
2. Provide a mechanism through which new families with various familial syndromes
associated with an increased risk of breast and ovarian cancer can be studied, as
research interests in these syndromes evolve over time; and
3. Create a resource of well-characterized, carefully documented high-risk families to
facilitate the development of new etiologic and translational research studies in the
future.
While we do not offer specific anti-cancer therapy as part of this protocol, we provide
assistance to ensure that study participants who require treatment for problems that develop
during the course of the study are referred to appropriate health providers. We
remain available to provide advice and consultation related to the management of the familial
cancer syndrome to study participants and their health care providers.
Individuals and families with known or suspected syndromes that include breast, ovarian or
genetically-related cancers are enrolled in this family study, which is a syndrome-specific
sub-set of the long-standing DCEG Human Genetics Program umbrella family studies protocol
(78-C-0039). Cancer outcomes are documented through review of medical, vital, and pathology
records. Selected individuals and family members are asked to complete questionnaires to
assess etiologic risk factors and to undergo clinical evaluations specifically tailored to
the relevant familial syndrome. Study participants are monitored prospectively for the
development of outcomes of interest, typically by means of periodic mail or telephone
contact. In selected instances, subjects may return to the Clinical Center periodically for
study-specific follow-up examinations. Study participants are asked to donate biologic
specimens to be used in the laboratory search for cancer etiology and mechanisms of
carcinogenesis. DNA and serial serum samples will be collected. Tumor tissue will be obtained
whenever feasible.
Clinical genetic testing for tumor susceptibility gene(s) mutations and risk notification
will be offered consistent with ASCO guidelines when reasonable individual cancer risk
estimates can be delivered, and only to those participants who choose to know their
individual genetic status after appropriate education and counseling. The testing will be
conducted exclusively in Clinical Laboratory Improvement Amendments (CLIA)-licensed
laboratories. Clinical genetic testing and risk notification are entirely optional and do not
affect subject eligibility for other aspects of the protocol. A separate consent procedure
and consent form will be used for genetic testing and risk notification.
This protocol, developed in response to recommendations developed by the Clinical Center IRB,
is intended to:
1. Provide a mechanism under which the Clinical Genetics Branch can honor the commitment
made to the members of over 60 hereditary breast/ovarian cancer families which have been
participated in various Human Genetics Program research studies conducted over the past
3 decades to provide genetic counseling, clinical germline mutation testing, and
consultative services now that several of the major breast/ovarian cancer susceptibility
genes have been identified;
2. Provide a mechanism through which new families with various familial syndromes
associated with an increased risk of breast and ovarian cancer can be studied, as
research interests in these syndromes evolve over time; and
3. Create a resource of well-characterized, carefully documented high-risk families to
facilitate the development of new etiologic and translational research studies in the
future.
While we do not offer specific anti-cancer therapy as part of this protocol, we provide
assistance to ensure that study participants who require treatment for problems that develop
during the course of the study are referred to appropriate health providers. We remain
available to provide advice and consultation related to the management of the familial cancer
syndrome to study participants and their health care providers.
genetically-related cancers are enrolled in this family study, which is a syndrome-specific
sub-set of the long-standing DCEG Human Genetics Program umbrella family studies protocol
(78-C-0039). Cancer outcomes are documented through review of medical, vital, and pathology
records. Selected individuals and family members are asked to complete questionnaires to
assess etiologic risk factors and to undergo clinical evaluations specifically tailored to
the relevant familial syndrome. Study participants are monitored prospectively for the
development of outcomes of interest, typically by means of periodic mail or telephone
contact. In selected instances, subjects may return to the Clinical Center periodically for
study-specific follow-up examinations. Study participants are asked to donate biologic
specimens to be used in the laboratory search for cancer etiology and mechanisms of
carcinogenesis. DNA and serial serum samples will be collected. Tumor tissue will be obtained
whenever feasible.
Clinical genetic testing for tumor susceptibility gene(s) mutations and risk notification
will be offered consistent with ASCO guidelines when reasonable individual cancer risk
estimates can be delivered, and only to those participants who choose to know their
individual genetic status after appropriate education and counseling. The testing will be
conducted exclusively in Clinical Laboratory Improvement Amendments (CLIA)-licensed
laboratories. Clinical genetic testing and risk notification are entirely optional and do not
affect subject eligibility for other aspects of the protocol. A separate consent procedure
and consent form will be used for genetic testing and risk notification.
This protocol, developed in response to recommendations developed by the Clinical Center IRB,
is intended to:
1. Provide a mechanism under which the Clinical Genetics Branch can honor the commitment
made to the members of over 60 hereditary breast/ovarian cancer families which have been
participated in various Human Genetics Program research studies conducted over the past
3 decades to provide genetic counseling, clinical germline mutation testing, and
consultative services now that several of the major breast/ovarian cancer susceptibility
genes have been identified;
2. Provide a mechanism through which new families with various familial syndromes
associated with an increased risk of breast and ovarian cancer can be studied, as
research interests in these syndromes evolve over time; and
3. Create a resource of well-characterized, carefully documented high-risk families to
facilitate the development of new etiologic and translational research studies in the
future.
While we do not offer specific anti-cancer therapy as part of this protocol, we provide
assistance to ensure that study participants who require treatment for problems that develop
during the course of the study are referred to appropriate health providers. We remain
available to provide advice and consultation related to the management of the familial cancer
syndrome to study participants and their health care providers.
- INCLUSION CRITERIA:
Individuals age 18 and over are considered for inclusion in the study if they have a:
Family history of neoplasia of an unusual type, pattern, or number which includes breast
cancer or is consistent with an identified or suspected familial cancer syndrome which
includes breast and/or ovarian cancer,
Personal history of neoplasia(s) or benign conditions of an unusual type or with unusual
demographic features (young age of onset, multiple primary sites, rare tumor type of
pathologic characteristics) consistent with an identified or suspected familial cancer
syndrome which includes breast and/or ovarian cancer, or
A known mutation associated with one of the breast/ovarian cancer family syndromes.
Eligibility is now restricted to only bloodline individuals age 18 and over from families
which are already enrolled in 02-C-0212 and in which there is a known BRCA mutation
Personal and family medical history must be verified through questionnaires, interviews,
and review of pathology slides and medical records. For known or suspected familial
syndromes in which no gene has been identified, two or more living affected cases among
family members are required for participation. The types of familial syndromes under active
accrual and study are predominantly investigator-and hypothesis-driven. This approach
permits CGB investigators to remain alert to the opportunities afforded by unexpected
clusters of rare tumors in families and individuals, and to tailor the accrual of families
with specific types of syndromes to meet programmatic goals. This requires that CGB
investigators remain abreast of both general knowledge and state-of the-art developments in
clinical oncology, genetics, epidemiology and molecular biology, so that critical research
opportunities can be recognized when they present, and so that thoughtful decisions can be
made regarding the commitment of the resources needed to conduct such studies.
EXCLUSION CRITERIA:
Individuals and families referred for evaluation in whom reported diagnoses are not
verifiable.
Inability to provide informed consent.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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