Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer

Authors: Holter, Spring, Hall, Michael J., Hampel, Heather, Jasperson, Kory, Kupfer, Sonia S., Larsen Haidle, Joy, Mork, Maureen E., Palaniapppan, Selvi, Senter, Leigha, Stoffel, Elena M., Weissman, Scott M., Yurgelun, Matthew B.

Source: Journal of genetic counseling. 31(3):568-583

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153844423.0x000001&indx=1&recIds=ETOCvdc_100153844423.0x000001

Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers

Authors: Kim, Soyoun Rachel ^{1, 2, *}, Tone, Alicia ¹, Kim, Raymond ^{3, 4, 5}, Cesari, Matthew ⁶, Clarke, Blaise ⁶, Hart, Tae ⁷, Aronson, Melyssa ⁴, Holter, Spring ⁴, Lytwyn, Alice ⁸, Maganti, Manjula ⁹, Oldfield, Leslie ¹⁰, Gallinger, Steven ¹¹, Bernardini, Marcus Q ^{1, 2}, Oza, Amit M ⁵, Djordjevic, Bojana ⁶, Lerner-Ellis, Jordan ⁶, Van de Laar, Emily ¹, Vicus, Danielle ¹², Pugh, Trevor J ^{13, 14}, Pollett, Aaron ⁶, Ferguson, Sarah Elizabeth ^{1, 2}, Eiriksson, Lua ¹⁵

Source: In International Journal of Gynecological Cancer July 2022 32(7):891-898

Beyond Khorana score 2: Molecular correlates of venous thromboembolism in pancreatic cancer.

Authors: Gerstein, Jonathon Jonah, Chan-Seng-Yue, Michelle, O´Kane, Grainne, Jang, Gun Ho, Fischer, Sandra, Dodd, Anna, Holter, Spring, Wilson, Julie, Zogopoulos, George, Monajemzadeh, Maryam, Elimova, Elena, Prince, Rebecca M., Jang, Raymond Woo-Jun, Moore, Malcolm J., Biagi, Jim Joseph, Notta, Faiyaz, Grant, Robert C, Gallinger, Steven, Knox, Jennifer J., Tsang, Erica S

Source: Journal of Clinical Oncology; 2025 Supplement 4, Vol. 43, p751-751, 121p

Germline pathogenic variants in a cohort of individuals with biliary tract cancer.

Authors: Holter, Spring, Borgida, Ayelet, Beaudry, Felix, Hildebrand, Maggie, Dodd, Anna, Wang, Xin, Knox, Jennifer J., Vogel, Arndt, Tsang, Erica S, Jang, Raymond Woo-Jun, Elimova, Elena, Moulton, Carol-Anne, Reichman, Trevor, Shwaartz, Chaya, Sapisochin, Gonzalo, Gallinger, Steven, Grant, Robert C

Source: Journal of Clinical Oncology; 2025 Supplement 4, Vol. 43, p559-559, 132p

Standardization of EUS imaging and reporting in high-risk individuals of pancreatic adenocarcinoma: consensus statement of the Pancreatic Cancer Early Detection Consortium

Authors: Amundadottir, Laufey, Beyer, Georg, Bi, Yan, Brentnall, Teresa, Carpizo, Darren, Carrato, Alfredo, Chandarana, Hersh, Chun, Jennifer, Chung, Daniel, Dudley, Beth, Earl, Julia, Everett, Jessica, Fava, Melissa, Gaddam, Srinivas, Gallinger, Steve, Golan, Talia, Graff, John, Greenhalf, William, Grossberg, Aaron, Hart, Philip, Holter, Spring, Huang, Chenchan, Idos, Gregory, Kanth, Priyanka, Kastrinos, Fay, Katona, Bryson, Kaul, Vivek, Klute, Kelsey, Kupfer, Sonia, Liau, Joy, Lin, James, Lindberg, James, Lowy, Andrew, Lucas, Aimee, Mayerle, Julia, Merchant, Nipun, Paiella, Salvatore, Permuth, Jennifer, Schrader, Intan, Sears, Rosalie, Siveke, Jens, Sussman, Daniel, Zogopoulos, George, Gonda, Tamas A., Farrell, James, Wallace, Michael, Khanna, Lauren, Janec, Eileen, Kwon, Richard, Saunders, Michael, Siddiqui, Uzma D., Brand, Randall, Simeone, Diane M.

Source: In Gastrointestinal Endoscopy April 2022 95(4):723-732

Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma

Authors: Golan, Talia, O’Kane, Grainne M., Denroche, Robert E., Raitses-Gurevich, Maria, Grant, Robert C., Holter, Spring, Wang, Yifan, Zhang, Amy, Jang, Gun Ho, Stossel, Chani, Atias, Dikla, Halperin, Sharon, Berger, Raanan, Glick, Yulia, Park, J. Patrick, Cuggia, Adeline, Williamson, Laura, Wong, Hui-Li, Schaeffer, David F., Renouf, Daniel J., Borgida, Ayelet, Dodd, Anna, Wilson, Julie M., Fischer, Sandra E., Notta, Faiyaz, Knox, Jennifer J., Zogopoulos, George, Gallinger, Steven

Source: In Gastroenterology May 2021 160(6):2119-2132

Understanding the clinical implication of mismatch repair deficiency in endometrioid endometrial cancer through a prospective study

Authors: Kim, Soyoun Rachel, Tone, Alicia, Kim, Raymond H., Cesari, Matthew, Clarke, Blaise A., Eiriksson, Lua, Hart, Tae, Aronson, Melyssa, Holter, Spring, Lytwyn, Alice, Lajkosz, Katherine, Oldfield, Leslie, Gallinger, Steven, Bernardini, Marcus Q., Oza, Amit M., Djordjevic, Bojana, Lerner-Ellis, Jordan, Van de Laar, Emily, Vicus, Danielle, Pugh, Trevor, Pollett, Aaron, Ferguson, Sarah E.

Source: In Gynecologic Oncology April 2021 161(1):221-227

An Integrative DNA Sequencing and Methylation Panel to Assess Mismatch Repair Deficiency

Authors: Oldfield, Leslie E., Li, Tiantian, Tone, Alicia, Aronson, Melyssa, Edwards, Melissa, Holter, Spring, Quevedo, Rene, Van de Laar, Emily, Lerner-Ellis, Jordan, Pollett, Aaron, Clarke, Blaise, Tabori, Uri, Gallinger, Steven, Ferguson, Sarah E., Pugh, Trevor J.

Source: In The Journal of Molecular Diagnostics February 2021 23(2):242-252

Maximizing cancer prevention through genetic navigation for Lynch syndrome detection in women with newly diagnosed endometrial and nonserous/nonmucinous epithelial ovarian cancer

Authors: Kim, Soyoun Rachel, Tone, Alicia, Kim, Raymond H., Cesari, Matthew, Clarke, Blaise A., Eiriksson, Lua, Hart, Tae L., Aronson, Melyssa, Holter, Spring, Lytwyn, Alice, Maganti, Manjula, Oldfield, Leslie, Gallinger, Steven, Bernardini, Marcus Q., Oza, Amit M., Djordjevic, Bojana, Lerner‐Ellis, Jordan, Van de Laar, Emily, Vicus, Danielle, Pugh, Trevor J., Pollett, Aaron, Ferguson, Sarah E.

Source: Cancer. 127(17):3082-3091

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125702319.0x000001&indx=1&recIds=ETOCvdc_100125702319.0x000001

Tumor site discordance in mismatch repair deficiency in synchronous endometrial and ovarian cancers

Authors: Kim, Soyoun Rachel ^{1, 2}, Tone, Alicia ¹, Kim, Raymond ^{3, 4, 5}, Cesari, Matthew ⁶, Clarke, Blaise ⁶, Eiriksson, Lua ⁷, Hart, Tae ^{4, 8}, Aronson, Melyssa ⁴, Holter, Spring ⁴, Lytwyn, Alice ⁹, Maganti, Manjula ¹⁰, Oldfield, Leslie ¹¹, Gallinger, Steven ¹², Bernardini, Marcus Q ^{1, 2}, Oza, Amit M ⁵, Djordjevic, Bojana ^{6, 13}, Lerner-Ellis, Jordan ⁶, Van de Laar, Emily ¹, Vicus, Danielle ^{1, 2, 13}, Pugh, Trevor J ^{11, 14}, Pollett, Aaron ^{6, 15}, Ferguson, Sarah Elizabeth ^{1, 2, *}

Source: In International Journal of Gynecological Cancer December 2020 30(12):1951-1958

Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer

Authors: Kim, Soyoun Rachel, Tone, Alicia, Kim, Raymond H., Cesari, Matthew, Clarke, Blaise A., Eiriksson, Lua, Hart, Tae, Aronson, Melyssa, Holter, Spring, Lytwyn, Alice, Maganti, Manjula, Oldfield, Leslie, Gallinger, Steven, Bernardini, Marcus Q., Oza, Amit M., Djordjevic, Bojana, Lerner‐Ellis, Jordan, Van de Laar, Emily, Vicus, Danielle, Pugh, Trevor J., Pollett, Aaron, Ferguson, Sarah E.

Source: Cancer. 126(22):4886-4894

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121038175.0x000001&indx=1&recIds=ETOCvdc_100121038175.0x000001

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Authors: Lebo, Matthew S., Zakoor, Kathleen-Rose, Chun, Kathy, Speevak, Marsha D., Waye, John S., McCready, Elizabeth, Parboosingh, Jillian S., Lamont, Ryan E., Feilotter, Harriet, Bosdet, Ian, Tucker, Tracy, Young, Sean, Karsan, Aly, Charames, George S., Agatep, Ronald, Spriggs, Elizabeth L., Chisholm, Caitlin, Vasli, Nasim, Daoud, Hussein, Jarinova, Olga, Tomaszewski, Robert, Hume, Stacey, Taylor, Sherryl, Akbari, Mohammad R., Lerner-Ellis, Jordan, Agatep, Ron, Ainsworth, Peter, Aronson, Melyssa, Basran, Raveen, Blavier, Andre, Blumenthal, Andrea, Boycott, Kym, Brudno, Michael, Buckley, Kathleen, Campbell, Jodi, M. Campeau, Philippe, Care, Melanie, Carson, Nancy, Carter, Ronald, Charames, George, Chitayat, David, Chong, George, Chouinard, Edmond, Craddock, Kenneth J., Docking, Rod, Eisen, Andrea, Faghfoury, Hanna, Farrell, Sandra, Fernandez, Bridget, Fiume, Marc, Forster-Gibson, Cynthia, Friedman, Jan, Foulkes, William, Goodhand, Peter, Gu, Jessica, Hegele, Robert, Holter, Spring, Horsburgh, Sheri, Hughes, Lauren, Jewett, Franny, Junker, Anne, Khalouei, Sam, Knoll, Joan, Kolomeitz, Elena, Knoppers, Bartha, Lamont, Ryan, Lebo, Matthew, Maire, Georges, Marshall, Christian, Mitchell, Grant, J Moorhouse, Michael, Morel, Chantal, Nelson, Tanya, Noor, Abdul, O'Connor, Brian, O'Rielly, Darren, Ouellette, Francis, Parboosingh, Jillian, Racher, Hilary, Ray, Peter, Rehm, Heidi, Riddell, Christie, Riviere, Jean-Baptiste, Rosenblatt, David S., Rouleau, Guy, Ruchon, Andrea, Sabatini, Peter, Sadikovic, Bekim, Semotiuk, Kara, Scherer, Stephen W., Shuman, Cheryl, Silver, Josh, Siminovitch, Katherine, Solomon-Izsak, Lesley, Soucy, Jean-Francois, Speevak, Marsha, Stavropoulos, James, Stein, Lincoln, Tannenbaum, Rhonda, Terespolsky, Deborah, Wintle, Richard F., Wong, Beatrix, Wong, Nora, Wang, Marina, Watkins, Nicholas, White, Shana, Woods, Michael O., Wyatt, Philip

Source: In Genetics in Medicine March 2018 20(3):294-302

Patient-physician relationships, health self-efficacy, and gynecologic cancer screening among women with Lynch syndrome

Authors: McGarragle, Kaitlin, Aronson, Melyssa, Semotiuk, Kara, Holter, Spring, Hare, Crystal, Ferguson, Sarah, Cohen, Zane, Hart, Tae

Source: Hereditary cancer in clinical practice. 17(1):1-9

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191720500.0x000001&indx=1&recIds=ETOCvdc_100191720500.0x000001

Examining intrafamilial communication of colorectal cancer risk status to family members and kin responses to colonoscopy: a qualitative study

Authors: McGarragle, Kaitlin, Hare, Crystal, Holter, Spring, Facey, Dorian, McShane, Kelly, Gallinger, Steven, Hart, Tae

Source: Hereditary cancer in clinical practice. 17(1):1-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188613343.0x000001&indx=1&recIds=ETOCvdc_100188613343.0x000001

The impact of health anxiety on perceptions of personal and children's health in parents with Lynch syndrome

Authors: Albiani, Jenna J., McShane, Kelly E., Holter, Spring, Semotiuk, Kara, Aronson, Melyssa, Cohen, Zane, Hart, Tae L.

Source: Journal of genetic counseling. 28(3):495-506

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084121453.0x000001&indx=1&recIds=ETOCvdc_100084121453.0x000001

Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer

Authors: Grant, Robert C., Holter, Spring, Borgida, Ayelet, Dhani, Neesha C., Hedley, David W., Knox, Jennifer J., Akbari, Mohammad R., Zogopoulos, George, Gallinger, Steven

Source: Journal of genetic counseling. 27(4):988-995

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124193256.0x000001&indx=1&recIds=ETOCvdc_100124193256.0x000001

Additional germline findings from a tumor profiling program

Authors: Stjepanovic, Neda, Stockley, Tracy, Bedard, Philippe, McCuaig, Jeanna, Aronson, Melyssa, Holter, Spring, Semotiuk, Kara, Leighl, Natasha, Jang, Raymond, Krzyzanowska, Monika, Oza, Amit, Gupta, Abha, Elser, Christine, Ahmed, Lailah, Wang, Lisa, Kamel-Reid, Suzanne, Siu, Lillian, Kim, Raymond

Source: BMC medical genomics. 11(1):1-8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174878158.0x000001&indx=1&recIds=ETOCvdc_100174878158.0x000001

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer

Authors: Smith, Alyssa L., Alirezaie, Najmeh, Connor, Ashton, Chan-Seng-Yue, Michelle, Grant, Robert, Selander, Iris, Bascuñana, Claire, Borgida, Ayelet, Hall, Anita, Whelan, Thomas, Holter, Spring, McPherson, Treasa, Cleary, Sean, Petersen, Gloria M., Omeroglu, Atilla, Saloustros, Emmanouil, McPherson, John, Stein, Lincoln D., Foulkes, William D., Majewski, Jacek, Gallinger, Steven ^*, Zogopoulos, George ^**

Source: In Cancer Letters 28 January 2016 370(2):302-312

PMS2 monoallelic mutation carriers: the known unknown

Authors: Goodenberger, McKinsey L., Thomas, Brittany C., Riegert-Johnson, Douglas, Boland, C. Richard, Plon, Sharon E., Clendenning, Mark, Win, Aung Ko, Senter, Leigha, Lipkin, Steven M., Stadler, Zsofia K., Macrae, Finlay A., Lynch, Henry T., Weitzel, Jeffrey N., de la Chapelle, Albert, Syngal, Sapna, Lynch, Patrick, Parry, Susan, Jenkins, Mark A., Gallinger, Steven, Holter, Spring, Aronson, Melyssa, Newcomb, Polly A., Burnett, Terrilea, Le Marchand, Loïc, Pichurin, Pavel, Hampel, Heather, Terdiman, Jonathan P., Lu, Karen H., Thibodeau, Stephen, Lindor, Noralane M.

Source: In Genetics in Medicine January 2016 18(1):13-19

Characterizing the genomic landscape of locally advanced pancreatic cancer.

Authors: Gonzalez Conchas, Galileo Arturo, O'Kane, Grainne M., Denroche, Robert Edward, Jang, Gun Ho, Fischer, Sandra, Dodd, Anna, Picardo, Sarah Louise, Holter, Spring, Wilson, Julie, Zogopoulos, George, Elimova, Elena, Prince, Rebecca M., Jang, Raymond Woo-Jun, Moore, Malcolm J., Biagi, James Joseph, Notta, Faiyaz, Grant, Robert C, Gallinger, Steven, Tsang, Erica S, Knox, Jennifer J.

Source: Journal of Clinical Oncology; 2024 Supplement 3, Vol. 42, p697-697, 117p