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final thesis_AM_2014.pdf (1.31 MB)

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Breast Cancer in PTEN Hamartoma Tumor Syndrome: Can a Predictive Fingerprint be Identified?

Machaj, Agnieszka S
http://rave.ohiolink.edu/etdc/view?acc_num=case1397736695

Abstract Details

2014, Master of Sciences, Case Western Reserve University, Genetic Counseling.
Breast carcinoma is a primary malignant tumor occurring in PTEN Hamartoma Tumor syndrome (PHTS). PHTS is caused by germline mutations in the tumor suppressor gene PTEN. Little is known about the histopathologic features and molecular profile of PHTS-related breast cancers. Furthermore, no data have been published on blood-PTEN/pAKT protein expression in individuals with germline PTEN mutations or other potential predictors of PTEN mutation status. Histopathological review of original Hematoxylin and Eosin slides demonstrated that apocrine features, atypical apocrine adenosis, and atypical ductal hyperplasia are distinctive histopathological features of PHTS-related breast tumors. A distinct PHTS-associated molecular profile was not identified; the association of PHTS-related breast cancers with a molecular apocrine profile was not confirmed. Furthermore, we determined that low blood-PTEN protein and/or high blood-pAKT expression, as well as the Cleveland Clinic PTEN risk score, may be used as predictors of germline PTEN mutations in Cowden syndrome/CS-like presentations of breast cancer.
Anne Matthews, RN, PHD (Committee Chair)
Anna Mitchell, MD, PhD (Committee Member)
Michell Merrill, MS, CGC (Committee Member)
Jessica Mester, MS, CGC (Committee Member)
Charis Eng, MD, PhD (Committee Member)
116 p.
Genetics
Breast cancer; PTEN; PHTS; PTEN hamartoma tumor syndrome; genetics; genetic counseling; Cowden syndrome; CS; pAKT; benign breast disease; FCC; molecular profile; IHC; molecular signature; breast tumors; blood protein; histopathologic features; ER; PR; AR

Recommended Citations

Citations

  • Machaj, A. S. (2014). Breast Cancer in PTEN Hamartoma Tumor Syndrome: Can a Predictive Fingerprint be Identified? [Master's thesis, Case Western Reserve University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=case1397736695

    APA Style (7th edition)

  • Machaj, Agnieszka. Breast Cancer in PTEN Hamartoma Tumor Syndrome: Can a Predictive Fingerprint be Identified? . 2014. Case Western Reserve University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=case1397736695.

    MLA Style (8th edition)

  • Machaj, Agnieszka. "Breast Cancer in PTEN Hamartoma Tumor Syndrome: Can a Predictive Fingerprint be Identified? ." Master's thesis, Case Western Reserve University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1397736695

    Chicago Manual of Style (17th edition)

case1397736695
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© 2014, all rights reserved.
This open access ETD is published by Case Western Reserve University School of Graduate Studies and OhioLINK.