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Deborah J. MacDonald, Kathleen R. Blazer and Jeffrey N. Weitzel

Rapidly evolving genetic and genomic technologies for genetic cancer risk assessment (GCRA) are revolutionizing the approach to targeted therapy and cancer screening and prevention, heralding the era of personalized medicine. Although many academic medical centers provide GCRA services, most people receive their medical care in the community setting. However, few community clinicians have the knowledge or time needed to adequately select, apply, and interpret genetic/genomic tests. This article describes alternative approaches to the delivery of GCRA services, profiling the City of Hope Cancer Screening & Prevention Program Network (CSPPN) academic and community-based health center partnership as a model for the delivery of the highest-quality evidence-based GCRA services while promoting research participation in the community setting. Growth of the CSPPN was enabled by information technology, with videoconferencing for telemedicine and Web conferencing for remote participation in interdisciplinary genetics tumor boards. Grant support facilitated the establishment of an underserved minority outreach clinic in the regional County hospital. Innovative clinician education, technology, and collaboration are powerful tools to extend GCRA expertise from a National Cancer Institute–designated Comprehensive Cancer Center, enabling diffusion of evidenced-base genetic/genomic information and best practice into the community setting.

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Mary B. Daly, Jennifer E. Axilbund, Saundra Buys, Beth Crawford, Carolyn D. Farrell, Susan Friedman, Judy E. Garber, Salil Goorha, Stephen B. Gruber, Heather Hampel, Virginia Kaklamani, Wendy Kohlmann, Allison Kurian, Jennifer Litton, P. Kelly Marcom, Robert Nussbaum, Kenneth Offit, Tuya Pal, Boris Pasche, Robert Pilarski, Gwen Reiser, Kristen Mahoney Shannon, Jeffrey R. Smith, Elizabeth Swisher and Jeffrey N. Weitzel

Overview All cancers develop as a result of mutations in certain genes, such as those involved in the regulation of cell growth and/or DNA repair,1,2 but not all of these mutations are inherited from a parent. For example, sporadic mutations can occur in somatic/tumor cells only, and de novo mutations can occur for the first time in a germ cell (i.e., egg or sperm) or in the fertilized egg itself during early embryogenesis. However, family studies have long documented an increased risk for several forms of cancer among first-degree (i.e., parents, siblings, and children) and second-degree relatives (i.e., grandparents, aunts or uncles, grandchildren, and nieces or nephews) of affected individuals. These individuals may have an increased susceptibility to cancer as the result of 1 or more gene mutations present in parental germline cells; cancers developing in these individuals may be classified as hereditary or familial cancers. Hereditary cancers are often characterized by mutations associated with a high probability of cancer development (i.e., a high penetrance genotype), vertical transmission through either mother or father, and an association with other types of tumors.3,4 They often have an early age of onset and exhibit an autosomal dominant inheritance pattern (i.e., occur when the individual has a mutation in only 1 copy of a gene). Familial cancers share only some features of hereditary cancers. For example, although familial breast cancers occur in a given family more frequently than in the general population, they generally do not exhibit the inheritance patterns or onset age consistent...
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Mary B. Daly, Robert Pilarski, Jennifer E. Axilbund, Saundra S. Buys, Beth Crawford, Susan Friedman, Judy E. Garber, Carolyn Horton, Virginia Kaklamani, Catherine Klein, Wendy Kohlmann, Allison Kurian, Jennifer Litton, Lisa Madlensky, P. Kelly Marcom, Sofia D. Merajver, Kenneth Offit, Tuya Pal, Boris Pasche, Gwen Reiser, Kristen Mahoney Shannon, Elizabeth Swisher, Nicoleta C. Voian, Jeffrey N. Weitzel, Alison Whelan, Georgia L. Wiesner, Mary A. Dwyer and Rashmi Kumar

During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.

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Mary B. Daly, Robert Pilarski, Jennifer E. Axilbund, Michael Berry, Saundra S. Buys, Beth Crawford, Meagan Farmer, Susan Friedman, Judy E. Garber, Seema Khan, Catherine Klein, Wendy Kohlmann, Allison Kurian, Jennifer K. Litton, Lisa Madlensky, P. Kelly Marcom, Sofia D. Merajver, Kenneth Offit, Tuya Pal, Huma Rana, Gwen Reiser, Mark E. Robson, Kristen Mahoney Shannon, Elizabeth Swisher, Nicoleta C. Voian, Jeffrey N. Weitzel, Alison Whelan, Myra J. Wick, Georgia L. Wiesner, Mary Dwyer, Rashmi Kumar and Susan Darlow

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations for genetic testing and counseling and risk assessment and management for hereditary cancer syndromes. Guidelines focus on syndromes associated with an increased risk of breast and/or ovarian cancer and are intended to assist with clinical and shared decision-making. These NCCN Guidelines Insights summarize major discussion points of the 2015 NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel meeting. Major discussion topics this year included multigene testing, risk management recommendations for less common genetic mutations, and salpingectomy for ovarian cancer risk reduction. The panel also discussed revisions to genetic testing criteria that take into account ovarian cancer histology and personal history of pancreatic cancer.

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Mary B. Daly, Robert Pilarski, Michael Berry, Saundra S. Buys, Meagan Farmer, Susan Friedman, Judy E. Garber, Noah D. Kauff, Seema Khan, Catherine Klein, Wendy Kohlmann, Allison Kurian, Jennifer K. Litton, Lisa Madlensky, Sofia D. Merajver, Kenneth Offit, Tuya Pal, Gwen Reiser, Kristen Mahoney Shannon, Elizabeth Swisher, Shaveta Vinayak, Nicoleta C. Voian, Jeffrey N. Weitzel, Myra J. Wick, Georgia L. Wiesner, Mary Dwyer and Susan Darlow

The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations for genetic testing and counseling for hereditary cancer syndromes and risk management recommendations for patients who are diagnosed with a syndrome. Guidelines focus on syndromes associated with an increased risk of breast and/or ovarian cancer. The NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel meets at least annually to review comments from reviewers within their institutions, examine relevant new data from publications and abstracts, and reevaluate and update their recommendations. The NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding risk management for carriers of moderately penetrant genetic mutations associated with breast and/or ovarian cancer.