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BRCA1(Breast Cancer 1) and its relevance to familial breast cancer


BRCA1(Breast Cancer 1) and its relevance to familial breast cancer. Skyler Newhouse and Katherine Varley (Camazine, 2011) – PowerPoint PPT presentation

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Title: BRCA1(Breast Cancer 1) and its relevance to familial breast cancer

BRCA1(Breast Cancer 1) and its relevance to
familial breast cancer
  • Skyler Newhouse and Katherine Varley
  • (Camazine, 2011)

  • Gene BRCA1
  • Mutation of BRCA1 increases chances of cancer by
  • Breast cancer is both genetic and non-genetic
  • Genetic risk factors
  • Presence of gene mutation of BRCA1
  • Activation of proto-oncogenes (a normal gene that
    can become an oncogene due to mutations or
    increased expression)
  • Inactivation of tumor-suppressor genes
  • Race
  • Gender
  • Non-genetic risk factors
  • Advancing age
  • Weight gain
  • More than two alcoholic beverages per day
  • Radiation therapy at a young age
  • (Dow, 2002)

  • When BRCA1 mutations occur, the DNA repair
    function is not regulated and there is an
    inherited correlation between the BRCA1 gene and
    the pathogenesis of breast cancer (Miao et al.,
  • Protein coded is Breast Cancer Type 1
    Susceptibility Protein
  • Breast cancer gene that shows a clear inherited
    pattern (autosomal dominant) (Bird, 2003)
  • Tumor-suppressor gene (Bird, 2003)
  • More than 100 different types of mutations on
    BRCA1 (Bird, 2003)

  • Discovered by Mary-Claire King
  • Discovered in 1990, located on chromosome 17q21
  • Studied at the University of Washington in
    Seattle where she also discovered BCRA1
  • ("Mary-claire king bio," 2012)

  • Mammography
  • Most widely used imaging tool
  • Screens for abnormalities by imaging the breasts
    soft tissue
  • Ultrasonography
  • Is used as a confirmatory tool after a mammogram
    to see whether a lump is cystic or solid
  • CT scans
  • Not nearly as effective as mammograms
  • MRI scanning
  • In early stages as a tool for diagnosing breast
    cancer not likely to be very useful because it
    cannot detect small calcifications in the breast
  • (Engel, 1996)
  • ("Mammogram," 2011)

  • Biopsies (Engel, 1996)
  • The ultimate method for diagnosing cancers
  • Breast Biopsy options Fine-needle aspiration
    biopsy, Large-core needle biopsy, and Open
    (Surgical) biopsy
  • Large-core needle biopsy ("Stereotactic breast
    biopsy," 2013)
  • Fine-needle aspiration biopsy ("Fine-needle
    aspiration," 2013)

Incidence and Mortality Rates
  • Most common cancer in American women
  • Second leading cause of cancer death of American
    women after lung cancer
  • Incidence and mortality rates vary by race and
  • White women have the highest incidence rate
  • Black women have this highest mortality rate
  • Survival decreases with advanced stages of the
  • 90 of people survive after 5 years
  • (Dow, 2002)

Death Rates by Race ("Seer stat
fact," 2012)
Race/Ethnicity Female
All Races 23.0 per 100,000 women
White 22.4 per 100,000 women
Black 31.6 per 100,000 women
Asian/Pacific Islander 11.9 per 100,000 women
American Indian/Alaska Native a 16.6 per 100,000 women
Hispanic b 14.9 per 100,000 women
  • Removal of the tumor if is non-invasive
  • Removal of the tumor with radiation, or radiation
    (chemotherapy) if tumor is invasive.
  • Looking at partial-breast radiation, rather than
    whole-breast radiation
  • Drugs
  • Platinum is a common second-line antitumor drug
    in breast cancer chemotherapy. It has been
    suggested that platinum may be an effective drug
    treatment for breast cancer with genetic
    mutations in the BRCA1 gene. (Miao et al., 2012)
  • Possibility of cure Currently there are
    treatments for breast cancer, and scientists are
    working towards a cure
  • (Shockney, 2008)

  • Consequences if left untreated
  • Cancer could spread to other tissues and become
    different types of cancer (if invasive).
  • Could lead to death by causing susceptibility to
  • Tumor could outgrow itself and develop necrosis
    (death of tissue)
  • (Shockney, 2008)

Recent Research
  • Use of platinum-based drugs as chemotherapy drugs
    on Triple-negative breast cancer
  • Triple-negative breast cancers can be caused by
  • Found that TNBC patients had better progression
    free survival up to 6 months after treatment with
    platinum-based drugs
  • There was little difference after one to two
    years, however
  • (Miao et al., 2012)

  • Bird, C. (2003). Introduction to breast care.
    London, England Whurr Publishers Ltd.
  • Camazine, S. (Photographer). (2011). Women with a
    defective copy of the brca1 gene are more likely
    to develop breast cancer.. Web Photo. Retrieved
    from http//
  • Dow, K. (2002). Pocket guide to breast cancer.
    (2nd ed.). Boston, Massachussets Jones and
    Bartlett Publishers.
  • Engel, J. (1996). The complete breast book.
    Toronto, Onterio Key Porter Books Limited.
  • (2013). Fine-needle aspiration. (2013). Web
    Graphic. Retrieved from http//
  • (2011). Mammogram. (2011). Web Graphic.
    Retrieved from http//
  • Mandal, A. (2013). History of breast cancer.
    Retrieved from http//
  • Mary-claire king bio. (2012). Retrieved from
  • Miao, L., Qin-Guo, M., Chang-Yuan, W., Quin-Hong,
    Q., Zhen, H., Jie, H., Jie, H. (2012).
    Platinum-based chemotherapy in triple-negative
    breast cancer A meta-analysis. Oncology
    Letters, 5(3), 983-991. doi 10.3892/ol.2012.1093
  • Sherman, J. (2000). Life's delicate balance
    causes and prevention of breast cancer. New York,
    New York Taylor Francis.
  • Shockney, L. (2008). The johns hopkins breast
    cancer handbook for health care professionals.
    Sudbury, Massachusetts Jones and Bartlett
  • U.S. National Institutes of Health, (2012). Seer
    stat fact sheets Breast. Retrieved from website
  • (2013). Stereotactic breast biopsy. (2013). Web
    Graphic. Retrieved from http//