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Analysis of Inherited Cancers

18 Years
Open (Enrolling)
Breast Cancer, Ovarian Cancer

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Trial Information

Analysis of Inherited Cancers

This study will recruit individuals with known BRCA1 and BRCA2 mutations or mutations in
similar cancer causing genes such as CHK2 or PALB2 who have had a cancer removed by surgery
or biopsied two or more times with available pathological blocks. We wish to enroll
individuals who have had more than one surgery or biopsy for cancer allowing us to obtain
tumor blocks from more than one time point. Such patients would include those with one
cancer which has recurred or more than one separate cancer. We will conduct a brief
interview with the subject to obtain personal information about medical and treatment
history. In addition, we will collect clinical information from their treating physician(s)
to correlate molecular findings with clinical responses to treatment and survival and
recurrence data. We will collect background clinical information and family history
information and a copy of the genetic test results documenting their cancer causing
mutation. We will recruit only patients with known BRCA1 or BRCA2 mutations or known
mutations in other cancer causing genes such as CHK2 or PALB2 and will not perform genetic
testing on non-tumor tissue for any new information on genetic susceptibility in patient
samples. Enrolled subjects will donate a blood sample that will be obtained locally and
shipped to the research laboratory, and this cost will be entirely covered by the research

Inclusion Criteria:

- Male or female

- Age 18 or older

- documented mutation in BRCA1, BRCA2 or other known cancer causing gene

- one or more cancer with available stored tissue blocks or slides

- willing to donate 16cc of blood

- able to understand English and provide informed consent

Exclusion Criteria:

- unable or unwilling to provide informed consent

- patient does not have tissue blocks available

- minor, under age 18

Type of Study:


Study Design:

Observational Model: Cohort, Time Perspective: Retrospective

Principal Investigator

Elizabeth M Swisher, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

University of Washington


United States: Institutional Review Board

Study ID:




Start Date:

October 2009

Completion Date:

June 2014

Related Keywords:

  • Breast Cancer
  • Ovarian Cancer
  • Breast Neoplasms
  • Ovarian Neoplasms



University of WashingtonSeattle, Washington  98195