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| Name | Class |
|---|---|
| Cold Spring Harbor Laboratory | OTHER |
The goal of this study is to help us learn more about the roles of genes in cancers that run in families. Sometimes, we are born with genes that are changed or altered. Gene changes are called mutations. Mutations may be passed down from parent to child. Some mutations cause a high risk for cancer. There are two major genes for breast and ovarian cancer. These genes are called BRCA --for breast cancer. If you have a mutation in these genes special actions may be needed. For a person with a known mutation, we will suggest ways to screen for cancer or prevent it. Not everything is known about cancer genes and mutations. The cancer screening we suggest may not always be effective. The aim of this study is to explore these questions. If you agree we will stay in touch with you to follow your medical history. We will also ask you about your family.
This will allow us to measure the cancer risks of known mutations. The study will also look for other cancer genes we do not know about. Whether or not you take part in this study, you may have gene testing. If you take part in this study and wish to know, we will tell your BRCA gene test results.
Beginning in 2019, a subset of participants will be given a follow-up questionnaire regarding their health and well-being.
The investigators may perform genetic testing on the blood or saliva sample in one of two ways: analysis for mutations in the BRCA1 and BRCA2 genes alone or as part of a panel of genes associated with breast cancer predisposition. New technologies are being employed for identification of patients with a susceptibility for developing breast cancer and thus analysis of multiple genes at one time may be offered to you. If this multi-gene testing applies to the patient, a question and answer sheet about this testing will be provided to them by their genetic counselor.
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| Measure | Description | Time Frame |
|---|---|---|
| To obtain DNA samples | for the purpose of estimating relative risk of BRCA1 ,BRCA2 and other gene mutations for breast cancer incidence in families with breast or ovarian cancer. | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| To obtain clinical and follow-up information on individuals being tested for BRCA mutations, in order to assess penetrance & phenotypic correlations of specific mutations, & to describe the outcome of medical or surgical interventions in heterozygotes. | 2 years | |
| To establish a confidential registry/repository containing data on specific mutations and genomic variants and clinical feature as well as DNA for future gene discovery. |
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Inclusion Criteria:
Exclusion Criteria:
-Patients will be excluded from this study if: he/she has physical, cognitive or psychiatric conditions that interfere with ability to give meaningful informed consent; he/she cannot read, write or communicate in English; he/she is less than 18 years of age.
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Primary Care Clinic
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| Name | Affiliation | Role |
|---|---|---|
| Kenneth Offit, MD | Memorial Sloan Kettering Cancer Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Memorial Sloan Kettering Basking Ridge | Basking Ridge | New Jersey | United States | |||
| Memorial Sloan Kettering Monmouth |
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| Label | URL |
|---|---|
| Related Info | View source |
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| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| D010051 | Ovarian Neoplasms |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
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Blood, Saliva, Buccal cell, Urine or Stool Tissue analysis and correlation of germline findings with somatic alterations within the tumor will be performed on a subset of individuals who have tumor tissue stored under protocol #06-107. Patients will be asked to fill out a baseline questionnaire on other medical, hormonal, and environmental risk factors.
| 2 years |
| Middletown |
| New Jersey |
| 07748 |
| United States |
| Memorial Sloan Kettering Bergen | Montvale | New Jersey | 07645 | United States |
| Memorial Sloan Kettering Commack | Commack | New York | 11725 | United States |
| Memorial Sloan Kettering Westchester | Harrison | New York | 10604 | United States |
| Memorial Sloan Kettering Cancer Center | New York | New York | 10065 | United States |
| Memorial Sloan Kettering Nassau | Uniondale | New York | 11553 | United States |
| D017437 |
| Skin and Connective Tissue Diseases |
| D004701 | Endocrine Gland Neoplasms |
| D010049 | Ovarian Diseases |
| D000291 | Adnexal Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D005833 | Genital Neoplasms, Female |
| D014565 | Urogenital Neoplasms |
| D000091662 | Genital Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |