Search Results - "BLAZER, Kathleen"

Reflex Immunohistochemistry and Microsatellite Instability Testing of Colorectal Tumors for Lynch Syndrome Among US Cancer Programs and Follow-Up of Abnormal Results by BEAMER, Laura C, GRANT, Marcia L, ESPENSCHIED, Carin R, BLAZER, Kathleen R, HAMPEL, Heather L, WEITZEL, Jeffrey N, MACDONALD, Deborah J

“…Immunohistochemistry (IHC) for MLH1, MSH2, MSH6, and PMS2 protein expression and microsatellite instability (MSI) are well-established tools to screen for…”
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Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine by Weitzel, Jeffrey N, Blazer, Kathleen R, MacDonald, Deborah J, Culver, Julie O, Offit, Kenneth

“…Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy,…”
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Somatic TP53 variants frequently confound germ-line testing results by Weitzel, Jeffrey N, Chao, Elizabeth C, Nehoray, Bita, Van Tongeren, Lily R, LaDuca, Holly, Blazer, Kathleen R, Slavin, Thomas, FACMG, D A B M D, Pesaran, Tina, Rybak, Christina, Solomon, Ilana, Niell-Swiller, Mariana, Dolinsky, Jill S, Castillo, Danielle, Elliott, Aaron, Gau, Chia-Ling, Speare, Virginia, Jasperson, Kory

“…Purpose Blood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic TP53 variants detected by multigene…”
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Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk by Capasso, Alexandra, Nehoray, Bita, Gorman, Nicholas, Quinn, Emily A, Bucio, Daiana, Blazer, Kathleen R

“…As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate…”
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Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico by Villarreal‐Garza, Cynthia, Alvarez‐Gómez, Rosa María, Pérez‐Plasencia, Carlos, Herrera, Luis A., Herzog, Josef, Castillo, Danielle, Mohar, Alejandro, Castro, Clementina, Gallardo, Lenny N., Gallardo, Dolores, Santibáñez, Miguel, Blazer, Kathleen R., Weitzel, Jeffrey N.

“…BACKGROUND Frequent recurrent mutations in the breast and ovarian cancer susceptibility (BRCA) genes BRCA1 and BRCA2 among Hispanics, including a large…”
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Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry by Slavin, Thomas P, Van Tongeren, Lily R, Behrendt, Carolyn E, Solomon, Ilana, Rybak, Christina, Nehoray, Bita, Kuzmich, Lili, Niell-Swiller, Mariana, Blazer, Kathleen R, Tao, Shu, Yang, Kai, Culver, Julie O, Sand, Sharon, Castillo, Danielle, Herzog, Josef, Gray, Stacy W, Weitzel, Jeffrey N

“…In germline genetic testing, variants from understudied ancestries have been disproportionately classified as being of uncertain significance. We hypothesized…”
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Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management by Slavin, Thomas Paul, Niell-Swiller, Mariana, Solomon, Ilana, Nehoray, Bita, Rybak, Christina, Blazer, Kathleen R, Weitzel, Jeffrey N

“…Multigene panels can be a cost- and time-effective alternative to sequentially testing multiple genes, especially with a mixed family cancer phenotype…”
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Multigene assessment of genetic risk for women for two or more breast cancers by Weitzel, Jeffrey N., Kidd, John, Bernhisel, Ryan, Shehayeb, Susan, Frankel, Paul, Blazer, Kathleen R., Turco, Diana, Nehoray, Bita, McGreevy, Kim, Svirsky, Kira, Brown, Krystal, Gardiner, Anna, Daly, Mary, Hughes, Elisha, Cummings, Shelly, Saam, Jennifer, Slavin, Thomas P.

“…Purpose The prevalence, penetrance, and spectrum of pathogenic variants that predispose women to two or more breast cancers is largely unknown. Methods We…”
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When Clinical Care Depends on the Answer: The Challenges of Assessing Germline Cancer Gene Variants by Slavin, Thomas P, Blazer, Kathleen R, Weitzel, Jeffrey N

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The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients by Chavarri‐Guerra, Yanin, Hendricks, Carolyn B., Brown, Sandra, Marcum, Catherine, Hander, Mary, Segota, Zdenka E., Hake, Chris, Sand, Sharon, Slavin, Thomas P., Hurria, Arti, Soto‐Perez‐de‐Celis, Enrique, Nehoray, Bita, Blankstein, Kenneth B., Blazer, Kathleen R., Weitzel, Jeffrey N.

“…BACKGROUND/OBJECTIVES Women diagnosed with breast cancer (BC) at an older age are less likely to undergo genetic cancer risk assessment and genetic testing…”
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Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer by Weitzel, Jeffrey N, Lagos, Veronica I, Cullinane, Carey A, Gambol, Patricia J, Culver, Julie O, Blazer, Kathleen R, Palomares, Melanie R, Lowstuter, Katrina J, MacDonald, Deborah J

“…CONTEXT An autosomal dominant pattern of hereditary breast cancer may be masked by small family size or transmission through males given sex-limited…”
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Prevalence of BRCA Mutations and Founder Effect in High-Risk Hispanic Families by WEITZEL, Jeffrey N, LAGOS, Veronica, BLAZER, Kathleen R, NELSON, Rebecca, RICKER, Charité, HERZOG, Josef, MCGUIRE, Colleen, NEUHAUSEN, Susan

“…Approximately 12% of the U.S. population is Hispanic, with the majority residing in urban centers such as Los Angeles. The prevalence of BRCA mutations among…”
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Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings by Blazer, Kathleen R, Nehoray, Bita, Solomon, Ilana, Niell-Swiller, Mariana, Culver, Julie O, Uman, Gwen C, Weitzel, Jeffrey N

“…Advances in next-generation sequencing (NGS) technologies are driving a shift from single-gene to multigene panel testing for clinical genetic cancer risk…”
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Uptake of Risk-Reducing Surgeries in an International Real-World Cohort of Hispanic Women by Chavarri-Guerra, Yanin, Ferrigno-Guajardo, Ana, Villarreal-Garza, Cynthia, Martinez-Cannon, Bertha Alejandra, Abugattas-Saba, Julio, Fontaine, Annette C, Horcasitas, Darling J, Mora-Alferez, Pamela, Unzeitig, Gary W, Brown, Sandra, Mohar-Betancourt, Alejandro, Nehoray, Bita, Del Toro-Valero, Azucena, Daneri-Navarro, Adrian, Ganschow, Pamela, Komenaka, Ian, Rodriguez, Yenni, Gutierrez Seymour, Gubidxa, Valdez, Leonora, Blazer, Kathleen R, Ellis, Shellie, Weitzel, Jeffrey N

“…Women with pathogenic variants (PVs) in breast cancer (BC) and ovarian cancer (OC) associated genes are candidates for cancer risk-reducing strategies. Limited…”
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Cross‐sectional clinical cancer genomics community of practice survey analysis of provider attitudes and beliefs regarding the use of deceased family member tissue to guide living family member genetic cancer risk assessment by Nehoray, Bita, Slavin, Thomas P., Sun, Can‐Lan, Hurley, Karen, King, Elisabeth, Tsang, Kevin K., Cervantes, Aleck, Mokhnatkin, Janet V., Sand, Sharon, Mejia, Rosa, Reb, Anne, Samimi, Goli, Gray, Stacy, Blazer, Kathleen R., Weitzel, Jeffrey N.

“…Next‐generation tumor tissue sequencing techniques may result in the detection of putative germline pathogenic variants (PVs), raising the possibility that…”
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Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing by Trottier, Magan, Green, Dina, Ovadia, Hannah, Catchings, Amanda, Gruberg, Julia, Groner, Victoria, Fanjoy, Catherine, Dandiker, Sita, Blazer, Kathleen, Hamilton, Jada G., Offit, Kenneth

“…Background Consumer genomic testing (CGT), including direct‐to‐consumer and consumer‐initiated testing, is increasingly widespread yet has limited regulatory…”
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Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk by West, Allison H., Blazer, Kathleen R., Stoll, Jessica, Jones, Matthew, Weipert, Caroline M., Nielsen, Sarah M., Kupfer, Sonia S., Weitzel, Jeffrey N., Olopade, Olufunmilayo I.

“…Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and…”
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Increased Reach of Genetic Cancer Risk Assessment as a Tool for Precision Management of Hereditary Breast Cancer by Blazer, Kathleen R, Slavin, Thomas, Weitzel, Jeffrey N

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Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico by Blazer, Kathleen R, Chavarri-Guerra, Yanin, Villarreal Garza, Cynthia, Nehoray, Bita, Mohar, Alejandro, Daneri-Navarro, Adrian, Del Toro, Azucena, Aguilar, Dione, Arteaga, Jazmin, Álvarez, Rosa Maria, Mejia, Rosa, Herzog, Josef, Castillo, Danielle, Fernandez, Maria, Weitzel, Jeffrey N

“…Genomic cancer risk assessment (GCRA) is standard-of-care practice that uses genomic tools to identify individuals with increased cancer risk, enabling…”
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Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families by WEITZEL, Jeffrey N, LAGOS, Veronica I, SCHOLL, Tom, HERZOG, Josef S, JUDKINS, Thaddeus, HENDRICKSON, Brant, HO, Jason S, RICKER, Charité N, LOWSTUTER, Katrina J, BLAZER, Kathleen R, TOMLINSON, Gail

“…Background: Large rearrangements account for 8% to 15% of deleterious BRCA mutations, although none have been characterized previously in individuals of…”
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