Susan M Domchek

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  2. pmc Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    Ana Teresa Maia
    Cambridge Research Institute CRUK, Li Ka Shing Centre, Cancer Research UK, Robinson Way, Cambridge, CB2 0RE, UK
    Breast Cancer Res 14:R63. 2012
  3. pmc Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer
    Susan M Domchek
    Abramson Cancer Center, Department of Medicine, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6160, USA
    Cancer Discov 3:399-405. 2013
  4. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
  5. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
  6. pmc Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
  7. pmc Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers
    Susan M Domchek
    Abramson Cancer Center, The University of Pennsylvania School of Medicine, 3W Perelman Center, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Breast Cancer Res Treat 124:195-203. 2010
  8. doi request reprint Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2
    S M Domchek
    Abramson Cancer Center, University of Pennsylvania, 3 West Perelman Center, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Breast Cancer Res Treat 119:409-14. 2010
  9. ncbi request reprint Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2 mutation carriers
    Susan M Domchek
    Abramson Cancer Center, University of Pennsylvania, 14 Penn Tower, Philadelphia, PA 19104, USA
    J Natl Compr Canc Netw 4:177-82. 2006
  10. ncbi request reprint Clinical management of BRCA1 and BRCA2 mutation carriers
    Susan M Domchek
    Cancer Risk Evaluation Program, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19014, USA
    Nat Clin Pract Oncol 3:2-3. 2006

Detail Information

Publications67

  1. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  2. pmc Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    Ana Teresa Maia
    Cambridge Research Institute CRUK, Li Ka Shing Centre, Cancer Research UK, Robinson Way, Cambridge, CB2 0RE, UK
    Breast Cancer Res 14:R63. 2012
    ..We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism...
  3. pmc Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer
    Susan M Domchek
    Abramson Cancer Center, Department of Medicine, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6160, USA
    Cancer Discov 3:399-405. 2013
    ..Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results...
  4. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  5. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
    ..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
  6. pmc Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
    ..In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies...
  7. pmc Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers
    Susan M Domchek
    Abramson Cancer Center, The University of Pennsylvania School of Medicine, 3W Perelman Center, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Breast Cancer Res Treat 124:195-203. 2010
    ..An unacceptably high proportion of pathologic examinations did not adequately examine ovaries and fallopian tubes obtained at RRSO...
  8. doi request reprint Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2
    S M Domchek
    Abramson Cancer Center, University of Pennsylvania, 3 West Perelman Center, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Breast Cancer Res Treat 119:409-14. 2010
    ..Our data suggest that such women in the US should adhere to population based guidelines for breast cancer screening...
  9. ncbi request reprint Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2 mutation carriers
    Susan M Domchek
    Abramson Cancer Center, University of Pennsylvania, 14 Penn Tower, Philadelphia, PA 19104, USA
    J Natl Compr Canc Netw 4:177-82. 2006
    ..This article reviews the studies regarding BRRO in BRCA1/2 mutation carriers, with particular focus on the use of HRT...
  10. ncbi request reprint Clinical management of BRCA1 and BRCA2 mutation carriers
    Susan M Domchek
    Cancer Risk Evaluation Program, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19014, USA
    Nat Clin Pract Oncol 3:2-3. 2006
  11. ncbi request reprint Clinical management of BRCA1 and BRCA2 mutation carriers
    S M Domchek
    Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA
    Oncogene 25:5825-31. 2006
    ..Here, we review the current evidence for risk reduction strategies and outline future research directions...
  12. ncbi request reprint Application of breast cancer risk prediction models in clinical practice
    Susan M Domchek
    University of Pennsylvania Cancer Center, 14 Penn Tower, 3400 Spruce Street, Philadelphia, PA 19104, USA
    J Clin Oncol 21:593-601. 2003
    ..As illustrated by clinical examples, optimal counseling may require the use of several models, as well as clinical judgment, to provide the most accurate and useful information to women and their families...
  13. pmc The utility of ductal lavage in breast cancer detection and risk assessment
    Susan M Domchek
    The Rena Rowan Breast Center, University of Pennsylvania, Philadelphia, USA
    Breast Cancer Res 4:51-3. 2002
    ..Although DL appears safe and the device is approved by the US Food and Drug Administration, DL is still best utilized in the setting of clinical trials designed to resolve issues of sensitivity, specificity, and localization...
  14. pmc Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality
    Susan M Domchek
    Abramson Cancer Center and Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, USA
    JAMA 304:967-75. 2010
    ..Mastectomy and salpingo-oophorectomy are widely used by carriers of BRCA1 or BRCA2 mutations to reduce their risks of breast and ovarian cancer...
  15. doi request reprint Proceedings of the international consensus conference on breast cancer risk, genetics, & risk management, April, 2007
    Gordon F Schwartz
    Department of Surgery, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    Cancer 113:2627-37. 2008
    ..These risk reduction strategies were evaluated fully, and recommendations were made for the care of patients in each risk category. These guidelines for patient care were approved by the entire group of experts...
  16. doi request reprint Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers
    Tara M Friebel
    Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
    Clin Breast Cancer 7:875-82. 2007
    ..The availability of these risk-reduction strategies is an important consideration in the decision to undergo genetic testing...
  17. pmc Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers
    Timothy R Rebbeck
    Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
    J Natl Cancer Inst 101:80-7. 2009
    ..To guide women and their clinicians in optimizing cancer prevention strategies, we summarized the magnitude of the risk reductions in women with BRCA1/2 mutations who have undergone RRSO compared with those who have not...
  18. ncbi request reprint Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study
    Susan M Domchek
    Abramson Cancer Centre, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
    Lancet Oncol 7:223-9. 2006
    ..However, the reduction in mortality after this surgery is unclear. We aimed to assess whether BPSO improves overall mortality or cancer-specific mortality in BRCA1 and BRCA2 mutation carriers...
  19. pmc Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers
    Yonglan Zheng
    Department of Medicine, Center for Clinical Cancer Genetics and Global Health, The University of Chicago, Chicago, IL 60637, USA
    Carcinogenesis 34:1520-8. 2013
    ..Future studies and new GWAS in women of African ancestry hold promise to discover additional variants for breast cancer susceptibility with clinical implications throughout the African diaspora. ..
  20. pmc Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Timothy R Rebbeck
    Center for Clinical Epidemiology and Biostatistics and Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA
    Breast Cancer Res 10:108. 2008
    ..Here, we discuss the clinical decision-making implications of this research in the context of risk factors that may influence risk estimates in BRCA1/2 mutation carriers...
  21. pmc The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families
    Maurizia Dalla Palma
    Division of Medical Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Res 68:7006-14. 2008
    ..Whereas these findings should be confirmed in larger sample sets, our data suggest that genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%...
  22. pmc Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes
    Timothy R Rebbeck
    Abramson Cancer Center, Center for Clinical Epidemiology and Biostatistics, and Department of Medicine, The University of Pennsylvania Perleman School of Medicine, Philadelphia, Pennsylvania, USA
    Cancer Res 71:5792-805. 2011
    ..Overall, the data suggest that genomic variation at multiple loci that encode proteins that interact biologically with BRCA1 are associated with modified breast cancer and ovarian cancer risk in women who carry BRCA1 mutations...
  23. ncbi request reprint Clinical implications of low-penetrance breast cancer susceptibility alleles
    Francis Freisinger
    Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA
    Curr Oncol Rep 11:8-14. 2009
    ..This article reviews our current understanding of low-penetrance genes, with a specific focus on their clinical implications...
  24. ncbi request reprint Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic
    Gabriel A Brooks
    School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Cancer Biol Ther 5:1098-102. 2006
    ..Biallelic mutations of BRCA2 are a cause of Fanconi anemia and characteristic childhood cancers. We undertook this study to evaluate the contribution of familial BRCA mutations to childhood cancer in hereditary breast cancer families...
  25. doi request reprint Homeostasis of peripheral FoxP3(+) CD4 (+) regulatory T cells in patients with early and late stage breast cancer
    Andrew J Rech
    Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, 551 BRB II III, 421 Curie Blvd, Philadelphia, PA 19104, USA
    Cancer Immunol Immunother 59:599-607. 2010
    ..Total CD4(+) T cell counts are not constant, however, suggesting that homeostatic mechanisms, or susceptibility to cytotoxic or malignant insults, fundamentally differ for regulatory and non-regulatory CD4(+) T cells...
  26. pmc Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population-based study
    Anne Marie McCarthy
    Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
    Cancer 119:3596-603. 2013
    ..The objective of the current study was to evaluate the rates and predictors of physician recommendation for BRCA1/2 testing among patients with breast cancer...
  27. ncbi request reprint The clinical management of BRCA1 and BRCA2 mutation carriers
    Anthony P Gulati
    Cancer Risk Evaluation Program, University of Pennsylvania, Abramson Cancer Center, 14 Penn Tower, 3400 Spruce Street, Philadelphia, PA 19104, USA
    Curr Oncol Rep 10:47-53. 2008
    ..In particular, screening controversies and current guidelines are discussed, as are issues related to prophylactic mastectomy and oophorectomy...
  28. pmc Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers
    Timothy R Rebbeck
    Abramson Cancer Center, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
    Cancer Res 69:5801-10. 2009
    ..026). Variants in genes that interact biologically withBRCA1 and/or BRCA2 may be associated with modified ovarian cancer risk in women who carry BRCA1/2 mutations...
  29. doi request reprint Therapeutic approaches for women predisposed to breast cancer
    Katherine L Nathanson
    Department of Medicine and Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Annu Rev Med 62:295-306. 2011
    ..PARP inhibitors represent a novel therapeutic strategy that exploits the weaknesses of BRCA1/2-associated malignancies...
  30. pmc Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations
    Esme Finlay
    Division of Hematology Oncology, Department of Internal Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104 4283, USA
    Genet Test 12:81-91. 2008
    ..We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing...
  31. ncbi request reprint Prophylactic oophorectomy in women at increased cancer risk
    Susan M Domchek
    Abramson Cancer Center, Philadelphia, Pennsylvania, USA
    Curr Opin Obstet Gynecol 19:27-30. 2007
    ..Therefore, decisions regarding the timing of bilateral prophylactic salpingo-oophorectomy and the use of post-bilateral prophylactic salpingo-oophorectomy hormone replacement therapy must be carefully considered...
  32. pmc Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry
    Yonglan Zheng
    Department of Medicine, The University of Chicago, 900 E 57th Street, KCBD Building 8113D, Chicago, IL 60637, USA
    Breast Cancer Res Treat 132:341-5. 2012
    ....
  33. ncbi request reprint Preventive surgery is associated with reduced cancer risk and mortality in women with BRCA1 and BRCA2 mutations
    Susan M Domchek
    Leonard Davis Institute of Health Economics, University of Pennsylvania, Philadelpha, PA 19104, USA
    LDI Issue Brief 16:1-4. 2010
    ..The results are consistent with earlier studies and provide strong evidence for the use of preventive surgery as an effective approach to managing this genetic risk...
  34. pmc Incremental impact of breast cancer SNP panel on risk classification in a screening population of white and African American women
    Anne Marie McCarthy
    Perelman School of Medicine, University of Pennsylvania, 423 Guardian Drive, Room 1009, Philadelphia, PA 19104, USA
    Breast Cancer Res Treat 138:889-98. 2013
    ..Further research is needed to determine the clinical validity and utility of the SNP panel for use in breast cancer risk prediction, particularly among African Americans for whom these risk alleles have generally not been validated...
  35. pmc Melanoma genetic testing, counseling, and adherence to skin cancer prevention and detection behaviors
    Karen Glanz
    Perelman School of Medicine and School of Nursing, University of Pennsylvania, 801 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104, USA
    Cancer Epidemiol Biomarkers Prev 22:607-14. 2013
    ..Little is known about the impact of knowledge of CDKN2A and MC1R genotype on melanoma prevention behaviors like sun avoidance and skin examination in the context of familial melanoma...
  36. doi request reprint CD25 blockade depletes and selectively reprograms regulatory T cells in concert with immunotherapy in cancer patients
    Andrew J Rech
    Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Sci Transl Med 4:134ra62. 2012
    ..We conclude that CD25 blockade depletes and selectively reprograms T(regs) in concert with active immune therapy in cancer patients. These results suggest a mechanism to target cancer-associated T(regs) while avoiding autoimmunity...
  37. pmc Agreement of self-reported hormone receptor status with cancer registry data in young breast cancer patients
    Anne Marie McCarthy
    University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States
    Cancer Epidemiol 37:601-5. 2013
    ..Though breast cancer subtype is a key determinant of treatment choice and prognosis, few studies have assessed breast cancer patients' knowledge of estrogen and progesterone receptor (ER/PR) status...
  38. ncbi request reprint Knowledge, attitudes, and utilization of BRCA1/2 testing among women with early-onset breast cancer
    Nikki Peters
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Genet Test 9:48-53. 2005
    ..Further education regarding these specific points may enhance the use of genetic testing...
  39. pmc Proceedings of the international consensus conference on breast cancer risk, genetics, & risk management, April, 2007
    Gordon F Schwartz
    Jefferson Medical College, 1015 Chestnut Street, Suite 510, Philadelphia, PA 19107 4305, USA
    Breast J 15:4-16. 2009
    ..These risk reduction strategies were evaluated fully, and recommendations were made for the care of patients in each of the risk categories. These guidelines for patient care were approved by the entire group of experts...
  40. doi request reprint Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer
    Susan M Domchek
    University of Pennsylvania, Philadelphia, PA, USA
    Cancer 119:1344-8. 2013
    ..This study sought to estimate the risk of breast cancer (BC) after a diagnosis of ovarian cancer (OC) associated with mutation of the BRCA1/2 (breast cancer, early onset) genes (BRCA-OC)...
  41. ncbi request reprint Differential lysis of tumors by polyclonal T cell lines and T cell clones specific for hTERT
    Dih Yih Chen
    Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Biol Ther 6:1991-6. 2007
    ..Thus, I540-specific T cells can vary in cytotoxic potential depending on the method of generation, isolation and expansion...
  42. ncbi request reprint The prevention of hereditary breast cancer
    Estelamari Rodriquez
    Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA
    Semin Oncol 34:401-5. 2007
    ..In this article we review the current evidence regarding the efficacy of each of these management strategies...
  43. doi request reprint Use of total abdominal hysterectomy and hormone replacement therapy in BRCA1 and BRCA2 mutation carriers undergoing risk-reducing salpingo-oophorectomy
    C A Gabriel
    Department of Medicine and Abramson Cancer Center, University of Pennsylvania, 14 Penn Tower, 3400 Spruce Street, Philadelphia, PA 19104, USA
    Fam Cancer 8:23-8. 2009
    ....
  44. pmc Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence
    P Shah
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Breast Cancer Res Treat 118:539-46. 2009
    ..These data suggest that surveillance and prevention strategies may have different outcomes in BRCA1 and BRCA2 mutation carriers...
  45. ncbi request reprint Cancer treatment according to BRCA1 and BRCA2 mutations
    Kara N Maxwell
    Division of Hematology Oncology, Department of Internal Medicine, University of Pennsylvania, 3400 Spruce Street, 16 Penn Tower, Philadelphia, PA 19104, USA
    Nat Rev Clin Oncol 9:520-8. 2012
    ..Although the era of molecular medicine and targeted therapies has led to significant changes in the practice of oncology, new challenges continue to arise...
  46. doi request reprint Breast cancer predisposition syndromes
    Deborah Hemel
    Department of Medicine, Hospital of the University of Pennsylvania, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hematol Oncol Clin North Am 24:799-814. 2010
    ..More recently, strategies to target the underlying genetic defects in BRCA1- and BRCA2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer...
  47. ncbi request reprint Recent advances in breast cancer biology
    Susan M Domchek
    Department Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Curr Opin Oncol 14:589-93. 2002
    ..Second, in breast cancer genetics, CHEK2 was identified as one of what are likely to be many low-penetrance breast cancer susceptibility genes. These studies demonstrate the transition of basic biologic research to clinical application...
  48. pmc Breast cancer gene variants: separating the harmful from the harmless
    Susan M Domchek
    Abramson Cancer Center, Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, 421 Curie Blvd, Philadelphia, PA 19104 6160, USA
    J Clin Invest 119:2895-7. 2009
    ..This strategy should provide new avenues for clinicians to interpret results of genetic testing of BRCA1 variants and for researchers to study the basic molecular mechanisms of BRCA1 function in in vivo model systems...
  49. ncbi request reprint Telomerase-specific T-cell immunity in breast cancer: effect of vaccination on tumor immunosurveillance
    Susan M Domchek
    Abramson Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Cancer Res 67:10546-55. 2007
    ..These results suggest that hTERT-specific T cells could contribute to the immunosurveillance of breast cancer and suggest novel opportunities for both therapeutic and prophylactic vaccine strategies for cancer...
  50. ncbi request reprint Lymphomas of the breast: primary and secondary involvement
    Susan M Domchek
    Department of Adult Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    Cancer 94:6-13. 2002
    ..The authors hypothesized that screening mammography may influence the detection of lymphomatous involvement of the breast...
  51. pmc Breast cancer in young women
    Courtney A Gabriel
    Abramson Cancer Center, University of Pennsylvania, Philadelphia, 19104, USA
    Breast Cancer Res 12:212. 2010
    ....
  52. doi request reprint Quality of life in long-term survivors of metastatic breast cancer
    Jane L Meisel
    Department of Medicine, Brigham and Women s Hospital, Boston, MA, USA
    Clin Breast Cancer 12:119-26. 2012
    ..Psychosocial distress is common after a diagnosis of breast cancer. Little is known about the psychosocial adjustment of women living long term with metastatic breast cancer...
  53. doi request reprint Follow-up frequency and compliance in women with probably benign findings on breast magnetic resonance imaging
    Ariela L Marshall
    Department of Medicine, Perelman Center for Advanced Medicine, Hospital of the University of Pennsylvania, Philadelphia, USA
    Acad Radiol 19:406-11. 2012
    ..We wanted to examine patient adherence to follow-up recommendation for Breast Imaging-Reporting and Data System (BI-RADS) category 3 lesions at a tertiary care medical center...
  54. doi request reprint Tremelimumab in combination with exemestane in patients with advanced breast cancer and treatment-associated modulation of inducible costimulator expression on patient T cells
    Robert H Vonderheide
    Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Clin Cancer Res 16:3485-94. 2010
    ..Tremelimumab is a fully human monoclonal antibody specific for CTL-associated antigen 4 (CTLA4) with single-agent activity in certain tumors but has not been evaluated in patients with breast cancer...
  55. pmc Collapse of the CD27+ B-cell compartment associated with systemic plasmacytosis in patients with advanced melanoma and other cancers
    Erica L Carpenter
    Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Clin Cancer Res 15:4277-87. 2009
    ..This study aimed to investigate whether B-cell physiology was altered in the presence of melanoma and other cancers...
  56. doi request reprint Clinical management of hereditary breast cancer syndromes
    Amy S Clark
    Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA
    J Mammary Gland Biol Neoplasia 16:17-25. 2011
    ..Finally, PARP inhibitors represent a novel therapeutic strategy that exploits the weaknesses of BRCA1/2-associated malignancies...
  57. pmc Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers
    J Huang
    Department of Biology, University of Pennsylvania, Philadelphia, PA, USA
    J Med Genet 41:e120. 2004
  58. ncbi request reprint Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers
    Judith Balmana
    Breast Cancer Center, Medical Oncology Department, University Hospital Vall d Hebron, Barcelona, Spain
    Cancer Discov 1:29-34. 2011
    ..In this article, we provide a brief review of current developments concerning PARP inhibitors in BRCA-associated cancers and express concerns about challenges to further development...
  59. ncbi request reprint Telomerase vaccination has no detectable effect on SCID-repopulating and colony-forming activities in the bone marrow of cancer patients
    Gwenn Aël H Danet-Desnoyers
    Division of Hematology Oncology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Exp Hematol 33:1275-80. 2005
    ....
  60. ncbi request reprint Evaluation of anemia, neutropenia and skin toxicities in standard or dose-dense doxorubicin/cyclophosphamide (AC)-paclitaxel or docetaxel adjuvant chemotherapy in breast cancer
    J Schwartz
    Hospital of the University of Pennsylvania, Philadelphia, PA, USA
    Ann Oncol 16:247-52. 2005
    ..A chart review was performed to evaluate the rates of anemia, neutropenia and skin toxicities with dose-dense and traditional AC-taxane chemotherapy...
  61. ncbi request reprint Cancer yield of mammography, MR, and US in high-risk women: prospective multi-institution breast cancer screening study
    Constance D Lehman
    Department of Radiology, University of Washington Medical Center, Seattle Cancer Care Alliance, 825 Eastlake Ave E, G3 200, Seattle, WA 98109 1023, USA
    Radiology 244:381-8. 2007
    ..To prospectively determine cancer yield, callback and biopsy rates, and positive predictive value (PPV) of mammography, magnetic resonance (MR) imaging, and ultrasonography (US) in women at high risk for breast cancer...
  62. pmc Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study
    Noah D Kauff
    Clinical Genetics and Gynecology Services, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Box 192, New York, NY 10021, USA
    J Clin Oncol 26:1331-7. 2008
    ....
  63. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  64. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    ..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
  65. ncbi request reprint Central nervous system metastases in women who receive trastuzumab-based therapy for metastatic breast carcinoma
    Johanna C Bendell
    Department of Adult Oncology, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
    Cancer 97:2972-7. 2003
    ..Women with HER-2 overexpressing metastatic breast carcinoma benefit from trastuzumab-based therapy, but trastuzumab does not cross the blood-brain barrier. The authors characterized central nervous system (CNS) disease in these women...
  66. ncbi request reprint Cancer risk models: translating family history into clinical management
    Susan M Domchek
    Ann Intern Med 147:515-7. 2007
  67. ncbi request reprint Vaccination of cancer patients against telomerase induces functional antitumor CD8+ T lymphocytes
    Robert H Vonderheide
    Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    Clin Cancer Res 10:828-39. 2004
    ..Moreover, because survival of hTERT+ tumor cells requires functionally active telomerase, hTERT mutation or loss as a means of escape may be incompatible with sustained tumor growth...