Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations

por Horton, Carolyn, Blanco, Kirsten, Lo, Min-Tzu, Speare, Virginia, LaDuca, Holly, Dolinsky, Jill S, Kurian, Allison W
Publicado 2022

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

por Harrison, Steven M., Dolinsky, Jill S., Knight Johnson, Amy E., Pesaran, Tina, Azzariti, Danielle R., Bale, Sherri, Chao, Elizabeth C., Das, Soma, Vincent, Lisa, Rehm, Heidi L.
Publicado 2017

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

por Pritzlaff, Mary, Summerour, Pia, McFarland, Rachel, Li, Shuwei, Reineke, Patrick, Dolinsky, Jill S., Goldgar, David E., Shimelis, Hermela, Couch, Fergus J., Chao, Elizabeth C., LaDuca, Holly
Publicado 2016

Diagnosing hereditary cancer predisposition in men with prostate cancer

por Pritzlaff, Mary, Tian, Yuan, Reineke, Patrick, Stuenkel, A. J., Allen, Kyle, Gutierrez, Stephanie, Jackson, Michelle, Dolinsky, Jill S., LaDuca, Holly, Xu, Jianfeng, Black, Mary Helen, Helfand, Brian T.
Publicado 2020

Mutation prevalence tables for hereditary cancer derived from multigene panel testing

por Hart, Steven N., Polley, Eric C., Yussuf, Amal, Yadav, Siddhartha, Goldgar, David E., Hu, Chunling, LaDuca, Holly, Smith, Laura P., Fujimoto, June, Li, Shuwei, Couch, Fergus J., Dolinsky, Jill S.
Publicado 2020

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

por LaDuca, Holly, Stuenkel, A J, Dolinsky, Jill S., Keiles, Steven, Tandy, Stephany, Pesaran, Tina, Chen, Elaine, Gau, Chia-Ling, Palmaer, Erika, Shoaepour, Kamelia, Shah, Divya, Speare, Virginia, Gandomi, Stephanie, Chao, Elizabeth
Publicado 2014

The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

por Hu, Chunling, Polley, Eric C, Yadav, Siddhartha, Lilyquist, Jenna, Shimelis, Hermela, Na, Jie, Hart, Steven N, Goldgar, David E, Shah, Swati, Pesaran, Tina, Dolinsky, Jill S, LaDuca, Holly, Couch, Fergus J
Publicado 2020

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel te...

por Li, Hongyan, LaDuca, Holly, Pesaran, Tina, Chao, Elizabeth C., Dolinsky, Jill S., Parsons, Michael, Spurdle, Amanda B., Polley, Eric C., Shimelis, Hermela, Hart, Steven N., Hu, Chunling, Couch, Fergus J., Goldgar, David E.
Publicado 2019

Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes

por Hu, Chunling, LaDuca, Holly, Shimelis, Hermela, Polley, Eric C., Lilyquist, Jenna, Hart, Steven N., Na, Jie, Thomas, Abigail, Lee, Kun Y., Davis, Brigette Tippin, Black, Mary Helen, Pesaran, Tina, Goldgar, David E., Dolinsky, Jill S., Couch, Fergus J.
Publicado 2018

Somatic TP53 variants frequently confound germline testing results

por Weitzel, Jeffrey N., Chao, Elizabeth C., Nehoray, Bita, Van Tongeren, Lily R., LaDuca, Holly, Blazer, Kathleen R., Slavin, Thomas, Pesaran, Tina, Rybak, Christina, Solomon, Ilana, Niell-Swiller, Mariana, Dolinsky, Jill S., Castillo, Danielle, Elliott, Aaron, Gau, Chia-Ling, Speare, Virginia, Jasperson, Kory
Publicado 2017

Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer

por Yadav, Siddhartha, LaDuca, Holly, Polley, Eric C, Hu, Chunling, Niguidula, Nancy, Shimelis, Hermela, Lilyquist, Jenna, Na, Jie, Lee, Kun Y, Gutierrez, Stephanie, Yussuf, Amal, Hart, Steven N, Davis, Brigette Tippin, Chao, Elizabeth C, Pesaran, Tina, Goldgar, David E, Dolinsky, Jill S, Couch, Fergus J
Publicado 2020

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk pa...

por LaDuca, Holly, Polley, Eric C., Yussuf, Amal, Hoang, Lily, Gutierrez, Stephanie, Hart, Steven N., Yadav, Siddhartha, Hu, Chunling, Na, Jie, Goldgar, David E., Fulk, Kelly, Smith, Laura Panos, Horton, Carolyn, Profato, Jessica, Pesaran, Tina, Gau, Chia-Ling, Pronold, Melissa, Davis, Brigette Tippin, Chao, Elizabeth C., Couch, Fergus J., Dolinsky, Jill S.
Publicado 2019

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

por Karam, Rachid, Conner, Blair, LaDuca, Holly, McGoldrick, Kelly, Krempely, Kate, Richardson, Marcy E., Zimmermann, Heather, Gutierrez, Stephanie, Reineke, Patrick, Hoang, Lily, Allen, Kyle, Yussuf, Amal, Farber-Katz, Suzette, Rana, Huma Q., Culver, Samantha, Lee, John, Nashed, Sarah, Toppmeyer, Deborah, Collins, Debra, Haynes, Ginger, Pesaran, Tina, Dolinsky, Jill S., Tippin Davis, Brigette, Elliott, Aaron, Chao, Elizabeth
Publicado 2019

Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

por Shimelis, Hermela, LaDuca, Holly, Hu, Chunling, Hart, Steven N, Na, Jie, Thomas, Abigail, Akinhanmi, Margaret, Moore, Raymond M, Brauch, Hiltrud, Cox, Angela, Eccles, Diana M, Ewart-Toland, Amanda, Fasching, Peter A, Fostira, Florentia, Garber, Judy, Godwin, Andrew K, Konstantopoulou, Irene, Nevanlinna, Heli, Sharma, Priyanka, Yannoukakos, Drakoulis, Yao, Song, Feng, Bing-Jian, Tippin Davis, Brigette, Lilyquist, Jenna, Pesaran, Tina, Goldgar, David E, Polley, Eric C, Dolinsky, Jill S, Couch, Fergus J
Publicado 2018

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

por Hu, Chunling, Nagaraj, Anil Belur, Shimelis, Hermela, Montalban, Gemma, Lee, Kun Y., Huang, Huaizhi, Lumby, Carolyn A., Na, Jie, Susswein, Lisa R., Roberts, Maegan E., Marshall, Megan L., Hiraki, Susan, LaDuca, Holly, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Neuhausen, Susan L., Haiman, Christopher A., Kraft, Peter, Lindstrom, Sara, Palmer, Julie R., Teras, Lauren R., Vachon, Celine M., Yao, Song, Ong, Irene, Nathanson, Katherine L., Weitzel, Jeffrey N., Boddicker, Nicholas, Gnanaolivu, Rohan, Polley, Eric C., Mer, Georges, Cui, Gaofeng, Karam, Rachid, Richardson, Marcy E., Domchek, Susan M., Yadav, Siddhartha, Hruska, Kathleen S., Dolinsky, Jill, Weroha, S. John, Hart, Steven N., Simard, Jacques, Masson, Jean Yves, Pang, Yuan-Ping, Couch, Fergus J.
Publicado 2023

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

por Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, Dieter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S, LaDuca, Holly, Ramus, Susan J, Menon, Usha, Rosenthal, Adam N, Jacobs, Ian, Gayther, Simon A, Dicks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M, Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V O, Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D, Traficante, Nadia, Diez, Orland, Balmaña, Judith, Gruber, Stephen B, Chenevix-Trench, Georgia, Investigators, kConFab, Jensen, Allan, Kjær, Susanne K, Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J, Robson, Mark, Gronwald, Jacek, Domchek, Susan M, Culver, Julie O, de la Hoya, Miguel, Easton, Douglas F, Foulkes, William D, Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K, Pharoah, Paul D P, Antoniou, Antonis C
Publicado 2020