Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls

מאת Lilyquist, Jenna, LaDuca, Holly, Polley, Eric, Davis, Brigette Tippin, Shimelis, Hermela, Hu, Chunling, Hart, Steven N., Dolinsky, Jill S., Couch, Fergus J., Goldgar, David E.
הוצא לאור ב Gynecol Oncol (2017)

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

מאת 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.
הוצא לאור ב Genet Med (2017)

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

מאת 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
הוצא לאור ב Breast Cancer Res Treat (2016)

Diagnosing hereditary cancer predisposition in men with prostate cancer

מאת 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.
הוצא לאור ב Genet Med (2020)

Mutation prevalence tables for hereditary cancer derived from multigene panel testing

מאת 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.
הוצא לאור ב Hum Mutat (2020)

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

מאת 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
הוצא לאור ב Genet Med (2014)

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

מאת 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
הוצא לאור ב J Natl Cancer Inst (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...

מאת 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.
הוצא לאור ב Genet Med (2019)

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

מאת Lu, Hsiao-Mei, Li, Shuwei, Black, Mary Helen, Lee, Shela, Hoiness, Robert, Wu, Sitao, Mu, Wenbo, Huether, Robert, Chen, Jefferey, Sridhar, Srijani, Tian, Yuan, McFarland, Rachel, Dolinsky, Jill, Tippin Davis, Brigette, Mexal, Sharon, Dunlop, Charles, Elliott, Aaron
הוצא לאור ב JAMA Oncol (2018)

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

מאת 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.
הוצא לאור ב JCO Precis Oncol (2018)

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

מאת Couch, Fergus J., Shimelis, Hermela, Hu, Chunling, Hart, Steven N., Polley, Eric C., Na, Jie, Hallberg, Emily, Moore, Raymond, Thomas, Abigail, Lilyquist, Jenna, Feng, Bingjian, McFarland, Rachel, Pesaran, Tina, Huether, Robert, LaDuca, Holly, Chao, Elizabeth C., Goldgar, David E., Dolinsky, Jill S.
הוצא לאור ב JAMA Oncol (2017)

Somatic TP53 variants frequently confound germline testing results

מאת 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
הוצא לאור ב Genet Med (2017)

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

מאת Fortuno, Cristina, Mester, Jessica, Pesaran, Tina, Weitzel, Jeffrey N., Dolinsky, Jill, Yussuf, Amal, McGoldrick, Kelly, Garber, Judy E., Savage, Sharon A., Khincha, Payal P., Evans, D. Gareth, Achatz, Maria Isabel, Nichols, Kim E., Maxwell, Kara, Schiffman, Joshua D., Sandoval, Renata, James, Paul A., Spurdle, Amanda B.
הוצא לאור ב Hum Mutat (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...

מאת 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.
הוצא לאור ב Genet Med (2019)

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

מאת 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
הוצא לאור ב JAMA Netw Open (2019)

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

מאת Powers, Jacquelyn, Pinto, Emilia M., Barnoud, Thibaut, Leung, Jessica C., Martynyuk, Tetyana, Kossenkov, Andrew V., Philips, Aaron H., Desai, Heena, Hausler, Ryan, Kelly, Gregory, Le, Anh N., Li, Marilyn M., MacFarland, Suzanne P., Pyle, Louise C., Zelley, Kristin, Nathanson, Katherine L., Domchek, Susan M., Slavin, Thomas P., Weitzel, Jeffrey N., Stopfer, Jill E., Garber, Judy E., Joseph, Vijai, Offit, Kenneth, Dolinsky, Jill S., Gutierrez, Stephanie, McGoldrick, Kelly, Couch, Fergus J., Levin, Brooke, Edelman, Morris C., Levy, Carolyn Fein, Spunt, Sheri L., Kriwacki, Richard W., Zambetti, Gerard P., Ribeiro, Raul C., Murphy, Maureen E., Maxwell, Kara N.
הוצא לאור ב Cancer Res (2020)

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

מאת 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
הוצא לאור ב J Natl Cancer Inst (2020)

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

מאת Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Åke, Blomqvist, Carl, Claes, Kathleen B.M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S.G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Mohd Taib, Nur Aishah, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo I., Ottini, Laura, Penkert, Judith, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, van Overeem Hansen, Thomas, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H.L., Balmaña, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., Tischkowitz, Marc
הוצא לאור ב J Clin Oncol (2020)