Patient case: 64-year-old female with ovarian cancer; genetic feature: BRCA1

Clinical trial: Understanding Decision Making Processes for Undergoing Genetic Testing Among Women With Newly Diagnosed Breast Cancer

Summary: Genes are the "blueprints" for our bodies. Some people are born with an abnormal copy ("mutation") of a gene. These people may have a higher chance of getting a disease. Different mutations in different genes cause different diseases. Some women get breast cancer because they are born with an abnormal copy of a gene called BRCA1 or BRCA2. These women also have a higher chance of getting ovary cancer. Women with breast cancer and an abnormal copy of BRCA1 or BRCA2 also have a higher chance of getting a second breast cancer in their other breast. Because of this, women who might have a mutation may have genetic testing soon after their breast cancer diagnosis to learn about their risks of getting another cancer.
  Genetic testing may be done right after a woman has been diagnosed with breast cancer. It may also be done later, after surgery is done to treat the cancer. The investigators do not know when it is best to do genetic testing. The investigators are doing this study to try to understand whether women prefer testing before or after surgery. The investigator also want to find out how they feel about their choice later on, when their diagnosis in more in their past.


Eligibility: Inclusion Criteria:
  -  Diagnosis of invasive breast cancer or DCIS
  -  Appropriate for genetic testing, defined as if they meeting one or more of the following criteria (note that patients may be appropriate for genetic testing even if they do not meet these criteria, but NCCN and most payers recognize these groups as clearly appropriate for testing)
  -  Must be a primary malignancy (not recurrence), but can be second diagnosis if is a contralateral cancer and the first cancer was not treated with mastectomy
  -  Female age ≥18,
  -  If Ashkenazi Jewish: Breast cancer diagnosis ≤ 60. Subjects will be presumed to be of Ashkenazi ethnicity if Jewish religious preference is confirmed in subject and at least 1 parent, unless they explicitly endorse Sephardic, Iranian, Yemeni/Ethiopian, or Bukharan Jewish Decent, in which case non-Ashkenazi criteria will be applied.
  If not Ashkenazi Jewish:
  -  Breast cancer diagnosis ≤ 45 OR
  -  Bilateral breast cancer, with first diagnosed ≤ 50 OR
  -  Breast cancer diagnosed at any age with a male relative with breast cancer OR
  -  Breast cancer diagnosis ≤ 50 with one or more of the following::
  -  1 or more relative with breast cancer ≤ 50 or
  -  1 or more relative with ovarian cancer
  -  Have not completed definitive surgical treatment
  -  For patients planning mastectomy for treatment, has not yet undergone mastectomy
  -  For patients planning breast conservation for treatment, has not yet begun adjuvant radiation therapy
  Exclusion Criteria:
  -  LCIS without invasive cancer (IDC or ILC) and without DCIS
  -  Previous breast cancer treated with mastectomy
  -  Plan for neoadjuvant chemotherapy before surgery
  -  Unable to complete English language questionnaires, as instruments have not been validated in non-English speaking populations

Relevance to patient case: not relevant