Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility

Authors: Pinto, Emilia M., Fridman, Cintia, Figueiredo, Bonald C., Salvador, Hector, Teixeira, Manuel R., Pinto, Carla, Pinheiro, Manuela, Kratz, Christian P., Lavarino, Cinzia, Legal, Edith A.M. F., Le, Anh, Kelly, Gregory, Koeppe, Erika, Stoffel, Elena M., Breen, Kelsey, Hahner, Stefanie, Heinze, Britta, Techavichit, Piti, Krause, Amanda, Ogata, Tsutomu, Fujisawa, Yasuko, Walsh, Michael F., Rana, Huma Q., Maxwell, Kara N., Garber, Judy E., Rodriguez-Galindo, Carlos, Ribeiro, Raul C., Zambetti, Gerard P.

Source: In Human Genetics and Genomics Advances 11 January 2024 5(1)

Pancreatic Cancer: Changing Epidemiology and New Approaches to Risk Assessment, Early Detection, and Prevention

Authors: Stoffel, Elena M., Brand, Randall E., Goggins, Michael

Source: In Gastroenterology April 2023 164(5):752-765

Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines

Authors: Cavestro, Giulia Martina, Mannucci, Alessandro, Balaguer, Francesc, Hampel, Heather, Kupfer, Sonia S., Repici, Alessandro, Sartore-Bianchi, Andrea, Seppälä, Toni T., Valentini, Vincenzo, Boland, Clement Richard, Brand, Randall E., Buffart, Tineke E., Burke, Carol A., Caccialanza, Riccardo, Cannizzaro, Renato, Cascinu, Stefano, Cercek, Andrea, Crosbie, Emma J., Danese, Silvio, Dekker, Evelien, Daca-Alvarez, Maria, Deni, Francesco, Dominguez-Valentin, Mev, Eng, Cathy, Goel, Ajay, Guillem, Josè G., Houwen, Britt B.S.L., Kahi, Charles, Kalady, Matthew F., Kastrinos, Fay, Kühn, Florian, Laghi, Luigi, Latchford, Andrew, Liska, David, Lynch, Patrick, Malesci, Alberto, Mauri, Gianluca, Meldolesi, Elisa, Møller, Pål, Monahan, Kevin J., Möslein, Gabriela, Murphy, Caitlin C., Nass, Karlijn, Ng, Kimmie, Oliani, Cristina, Papaleo, Enrico, Patel, Swati G., Puzzono, Marta, Remo, Andrea, Ricciardiello, Luigi, Ripamonti, Carla Ida, Siena, Salvatore, Singh, Satish K., Stadler, Zsofia K., Stanich, Peter P., Syngal, Sapna, Turi, Stefano, Urso, Emanuele Damiano, Valle, Laura, Vanni, Valeria Stella, Vilar, Eduardo, Vitellaro, Marco, You, Yi-Qian Nancy, Yurgelun, Matthew B., Zuppardo, Raffaella Alessia, Stoffel, Elena M.

Source: In Clinical Gastroenterology and Hepatology March 2023 21(3):581-603

American Society for Gastrointestinal Endoscopy guideline on screening for pancreatic cancer in individuals with genetic susceptibility: methodology and review of evidence

Authors: Calderwood, Audrey H., Sawhney, Mandeep S., Thosani, Nirav C., Rebbeck, Timothy R., Wani, Sachin, Canto, Marcia I., Fishman, Douglas S., Golan, Talia, Hidalgo, Manuel, Kwon, Richard S., Riegert-Johnson, Douglas L., Sahani, Dushyant V., Stoffel, Elena M., Vollmer, Charles M., Jr., Al-Haddad, Mohammad A., Amateau, Stuart K., Buxbaum, James L., DiMaio, Christopher J., Fujii-Lau, Larissa L., Jamil, Laith H., Jue, Terry L., Law, Joanna K., Lee, Jeffrey K., Naveed, Mariam, Pawa, Swati, Storm, Andrew C., Qumseya, Bashar J.

Source: In Gastrointestinal Endoscopy May 2022 95(5):827-854

ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations

Authors: Sawhney, Mandeep S., Calderwood, Audrey H., Thosani, Nirav C., Rebbeck, Timothy R., Wani, Sachin, Canto, Marcia I., Fishman, Douglas S., Golan, Talia, Hidalgo, Manuel, Kwon, Richard S., Riegert-Johnson, Douglas L., Sahani, Dushyant V., Stoffel, Elena M., Vollmer, Charles M., Jr., Qumseya, Bashar J.

Source: In Gastrointestinal Endoscopy May 2022 95(5):817-826

Timeline of Development of Pancreatic Cancer and Implications for Successful Early Detection in High-Risk Individuals

Authors: Overbeek, Kasper A., Goggins, Michael G., Dbouk, Mohamad, Levink, Iris J.M., Koopmann, Brechtje D.M., Chuidian, Miguel, Konings, Ingrid C.A.W., Paiella, Salvatore, Earl, Julie, Fockens, Paul, Gress, Thomas M., Ausems, Margreet G.E.M., Poley, Jan-Werner, Thosani, Nirav C., Half, Elizabeth, Lachter, Jesse, Stoffel, Elena M., Kwon, Richard S., Stoita, Alina, Kastrinos, Fay, Lucas, Aimee L., Syngal, Sapna, Brand, Randall E., Chak, Amitabh, Carrato, Alfredo, Vleggaar, Frank P., Bartsch, Detlef K., van Hooft, Jeanin E., Cahen, Djuna L., Canto, Marcia Irene, Bruno, Marco J.

Source: In Gastroenterology March 2022 162(3):772-785

Racial and Ethnic Disparities in Germline Genetic Testing of Patients With Young-Onset Colorectal Cancer

Authors: Dharwadkar, Pooja, Greenan, Garrett, Stoffel, Elena M., Burstein, Ezra, Pirzadeh-Miller, Sara, Lahiri, Sayoni, Mauer, Caitlin, Singal, Amit G., Murphy, Caitlin C.

Source: In Clinical Gastroenterology and Hepatology February 2022 20(2):353-361

Initial Findings from a High Genetic Risk Prostate Cancer Clinic

Authors: Sessine, Michael S., Das, Sanjay, Park, Bumsoo, Salami, Simpa S., Kaffenberger, Samuel D., Kasputis, Amy, Solorzano, Marissa, Luke, Mallory, Vince, Randy A., Kaye, Deborah R., Borza, Tudor, Stoffel, Elena M., Cobain, Erin, Merajver, Sofia D., Jacobs, Michelle F., Milliron, Kara J., Caba, Laura, van Neste, Leander, Mondul, Alison M., Morgan, Todd M.

Source: In Urology October 2021 156:96-103

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Authors: Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, Jenkins, Mark A. ^*

Source: In The Lancet Oncology July 2021 22(7):1014-1022

Impact of barriers and motivators on intention and confidence to undergo hereditary cancer genetic testing.

Authors: Austin, Sarah, Hanson, Erika N., Delacroix, Emerson, Bacon, Elizabeth, Rice, John, Gerido, Lynette Hammond, Rizzo, Elizabeth, Pleasant, Versha, Stoffel, Elena M., Griggs, Jennifer J., Resnicow, Ken

Source: Journal of Genetic Counseling; Feb2025, Vol. 34 Issue 1, p1-11, 11p

Rethinking the rise of early-onset gastrointestinal cancers: a call to action.

Authors: Weinberg, Benjamin A, Murphy, Caitlin C, Freyer, David R, Greathouse, K Leigh, Blancato, Jan K, Stoffel, Elena M, Drewes, Julia L, Blaes, Anne, Salsman, John M, You, Y Nancy, Arem, Hannah, Mukherji, Reetu, Kanth, Priyanka, Hu, Xin, Fabrizio, Anne, Hartley, Marion L, Giannakis, Marios, Marshall, John L

Source: JNCI Cancer Spectrum; Feb2025, Vol. 9 Issue 1, p1-9, 9p

Subject Terms: GASTROINTESTINAL cancer, BLOOD collection, COLON cancer, RECTAL cancer, COLORECTAL cancer

Detection of Germline Variants in Patients With Localized and Metastatic Prostate Cancer Through Guideline-Based Testing.

Authors: Abusamra, Sophia M., Solorzano, Marissa A., Quarles, Jake, Luke, Mallory, Patel, Milan, Vince Jr, Randy, Jiang, Ralph, Volin, Joshua, Jacobs, Michelle F., Kaffenberger, Samuel D., Salami, Simpa S., Palmbos, Phillip, Caram, Megan E. V., Hollenbeck, Brent K., Palapattu, Ganesh S., Merajver, Sofia D., Stoffel, Elena M., Hafron, Jason, Morgan, Todd M., Reichert, Zachery R.

Source: Urology Practice; Jan2025, Vol. 12 Issue 1, p63-72, 10p

Risk Factors for Serrated Polyps: Results From a Large, Multicenter Colonoscopy-Based Study.

Authors: Crockett, Seth D., Shaukat, Aasma, Delau, Olivia, Stoffel, Elena M., Church, Timothy R., Syngal, Sapna, Bresalier, Robert

Source: American Journal of Gastroenterology (Lippincott Williams & Wilkins); Dec2024, Vol. 119 Issue 12, p2532-2539, 8p

Epidemiology and Mechanisms of the Increasing Incidence of Colon and Rectal Cancers in Young Adults

Authors: Stoffel, Elena M., Murphy, Caitlin C.

Source: In Gastroenterology January 2020 158(2):341-353

Outcomes of Endoscopic Surveillance in Individuals With Genetic Predisposition to Hereditary Diffuse Gastric Cancer

Authors: Jacobs, Michelle F., Dust, Henry, Koeppe, Erika, Wong, Sandra, Mulholland, Michael, Choi, Eun-Young, Appelman, Henry, Stoffel, Elena M.

Source: In Gastroenterology July 2019 157(1):87-96

Assessing Risk for Gastrointestinal Cancers: Forewarned Is Forearmed…˙

Authors: Stoffel, Elena M., Eng, Charis

Source: In Gastroenterology April 2023 164(5):705-706

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes.

Authors: Jacobs, Michelle F., Koeppe, Erika S., Chase, Colby L., Martinez, Julia, Henry, Marie‐Louise, Osborne, Jenae M., Stoffel, Elena M., Quinonez, Shane C.

Source: Journal of Genetic Counseling; Oct2024, Vol. 33 Issue 5, p1035-1044, 10p

Germline Genetic Features of Young Individuals With Colorectal Cancer

Authors: Stoffel, Elena M., Koeppe, Erika, Everett, Jessica, Ulintz, Peter, Kiel, Mark, Osborne, Jenae, Williams, Linford, Hanson, Kristen, Gruber, Stephen B., Rozek, Laura S.

Source: In Gastroenterology March 2018 154(4):897-905

Family history in colonoscopy patients: feasibility and performance of electronic and paper-based surveys for colorectal cancer risk assessment in the outpatient setting

Authors: Guivatchian, Tannaz, Koeppe, Erika S., Baker, Jason R., Moisa, Cristina, Demerath, Matthew, Foor-Pessin, Caitlin, Chey, William D., Eswaran, Shanti L., Kolars, Joseph C., Menees, Stacy B., Rajala, Michael, Rice, Michael D., Rizk, Rafat, Rubenstein, Joel H., Sharma, Pratima, Todisco, Andrea, Stoffel, Elena M.

Source: In Gastrointestinal Endoscopy October 2017 86(4):684-691

Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC).

Authors: Jacobs, Michelle F., Stoffel, Elena M.

Source: Familial Cancer; Aug2024, Vol. 23 Issue 3, p221-232, 12p

Subject Terms: PANCREATIC duct, HEREDITARY cancer syndromes, ADENOCARCINOMA, ENVIRONMENTAL risk, SURVIVAL rate, BIOSURVEILLANCE