Breast Imaging Studies in Women at High Genetic Risk of Breast Cancer: Menstrual Cycle Study
Condition: Breast Cancer
MeSH terms: Breast Neoplasms
Study type: Observational

Summary: 
      Women who carrying a BRCA1 or BRCA2 gene mutation or who are the first- or second-degree
      relative of an individual with a BRCA-associated cancer in a family documented to have a
      BRCA1 or BRCA2 mutation will be eligible for enrollment into this pilot study of breast
      cancer screening modalities. We will recruit up to fifty women (twenty-five women who carry
      an altered BRCA1 or BRCA2 gene and 25 non-carriers matched by age and family mutation type)
      with regular menstrual cycling (documented by menstrual history and premenopausal FSH level).
      A physical exam including exam of the breast and pelvis, a standard four view mammogram,
      breast MRI and PET scan will be scheduled initially during either the follicular or
      mid-luteal phase of the menstrual cycle. A unilateral cranio-caudal mammogram, and bilateral
      MRI and PET scan will be repeated three months after entry during the phase not initially
      studied. A CA125 and transvaginal color doppler ultrasonography will be done in the
      follicular phase. Carriers and non-carriers will be compared with respect to menstrual cycle
      differences in: (1) two measures of mammographic density (qualitative and semiquantitative);
      (2) a semiquantitative measure of fibroglandular volume (MRI); (3) a semiquantitative measure
      of contrast enhancement (MRI); and (4) FDG uptake measured over time (PET scan). On the
      initial and three-month visit, all participants will undergo breast duct lavage to
      investigate if there are consistent menstrual cycle differences in breast ductal cytologies.
      Participants will be seen annually thereafter for an additional three years of follow-up. A
      physical exam, standard four-view mammography, breast MRI, CA 125, transvaginal color doppler
      ultrasonography and breast duct lavage will be done annually. Consent for a PET study will be
      requested if an abnormality is detected on mammography or breast MRI requiring additional
      clinical or radiographic follow-up.

      Participants in the Menstrual Cycle Pilot Study, will complete a self-administered
      questionnaire and telephone interview and will complete periodic follow-up questionnaires to
      assess various behavioral and psychosocial endpoints.

      As part of the Menstrual Cycle Pilot Study, we will recruit 25 volunteers to assist in
      training study investigators in performing breast duct lavage. Cytologies obtained from
      volunteers will be used to develop oncogene probe panels to be used in the study.
    

Detailed description: 
      Asymptomatic, premenopausal women are (1) known carriers of an altered BRCA1 or BRCA2 gene,
      or (2) first- or second-degree relatives of individuals with a BRCA-associated cancer in a
      family documented to have a BRCA1 or BRCA2 gene mutation will be eligible for inclusion in
      this pilot study to assess new approaches to early detection of breast and ovarian cancer in
      high-risk women. We will recruit up to fifty women (twenty-five women who carry an altered
      BRCA1 or BRCA2 gene and 25 non-carriers matched by age and family mutation type) with regular
      menstrual cycling (documented by menstrual history and premenopausal FSH level). A physical
      exam including exam of the breast and pelvis, a standard four view mammogram and breast MRI
      will be scheduled initially during either the follicular or mid-luteal phase of the menstrual
      cycle. A unilateral cranio-caudal mammogram and bilateral MRI will be repeated three months
      after entry during the phase not initially studied. A CA125 and transvaginal color doppler
      ultrasonography will be done in the follicular phase. Carriers and non-carriers will be
      compared with respect to menstrual cycle differences in: (1) two measures of mammographic
      density (qualitative and semiquantitative); (2) a semiquantitative measure of fibroglandular
      volume (MRI); and (3) a semiquantitative measure of contrast enhancement (MRI). On the
      initial and three-month visit, all participants will undergo breast duct lavage to
      investigate if there are consistent menstrual cycle differences in breast ductal cytologies.
      Participants will be seen annually thereafter for an additional three years of follow-up. A
      physical exam, standard four-view mammography, breast MRI, CA 125, transvaginal color doppler
      ultrasonography and breast duct lavage will be done annually.

      Participants in the Menstrual Cycle Pilot Study, will complete a self-administered
      questionnaire and telephone interview and will complete periodic follow-up questionnaires to
      assess various behavioral and psychosocial endpoints.

      As part of the Menstrual Cycle Pilot Study, we will recruit 25 volunteers to assist in
      training study investigators in performing breast duct lavage. Cytologies obtained from
      volunteers will be used to develop oncogene probe panels to be used in the study.
    

Observational model: Cohort
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        As part of the Menstrual Cycle Pilot Study, we recruited 25 volunteers to assist in
        training study investigators in performing breast duct lavage. Cytologies obtained from
        volunteers were used to develop expertise in interpretation and management of women
        undergoing ductal lavage.
      
Keywords: Breast MRI; Ductal lavage; Nipple Aspirate Fluid; Transvaginal ultrasound