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MULTICENTER STUDY
Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Maehle, Eli Marie Grindedal, Astrid Stormorken, D Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R Teixeira, Louise Izatt, Mohnish Suri, Finlay A Macrae, Nicola Poplawski, Rakefet Chen-Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh, Carole Brewer, Nicholas Pachter, Allan D Spigelman, Ashraf Azzabi, Brian T Helfand, Dorothy Halliday, Saundra Buys, Teresa Ramon Y Cajal, Alan Donaldson, Kathleen A Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K Aaronson, Audrey Ardern-Jones, Chris H Bangma, Elena Castro, David Dearnaley, Alexander Dias, Tim Dudderidge, Diana M Eccles, Kate Green, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Hamdy, Oskar Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J Lindeman, Jan Lubinski, Karol Axcrona, Christos Mikropoulos, Anita V Mitra, Clare Moynihan, Holly Ni Raghallaigh, Gad Rennert, Rebecca Collier, Judith Offman, Zsofia Kote-Jarai, Rosalind A Eeles
BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset aggressive prostate cancer. The IMPACT study is prospectively assessing prostate-specific antigen (PSA) screening in men with germline mismatch repair pathogenic variants...
November 2021: Lancet Oncology
#22
JOURNAL ARTICLE
C Sloane Furniss, Matthew B Yurgelun, Chinedu Ukaegbu, Pamela E Constantinou, Catherine C Lafferty, Eliana R Talcove-Berko, Alison N Schwartz, Jill E Stopfer, Meghan Underhill-Blazey, Barbara Kenner, Scott H Nelson, Sydney Okumura, Sherman Law, Alicia Y Zhou, Tara B Coffin, Nicolette J Rodriguez, Hajime Uno, Allyson J Ocean, Florencia McAllister, Andrew M Lowy, Scott M Lippman, Alison P Klein, Lisa Madlensky, Gloria M Petersen, Judy E Garber, Michael G Goggins, Anirban Maitra, Sapna Syngal
Up to 10% of patients with pancreatic ductal adenocarcinoma (PDAC) carry underlying germline pathogenic variants in cancer susceptibility genes. The GENetic Education Risk Assessment and TEsting (GENERATE) study aimed to evaluate novel methods of genetic education and testing in relatives of patients with PDAC. Eligible individuals had a family history of PDAC and a relative with a germline pathogenic variant in APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11 , or TP53 genes. Participants were recruited at six academic cancer centers and through social media campaigns and patient advocacy efforts...
October 8, 2021: Cancer Prevention Research
#23
JOURNAL ARTICLE
A Shaukat, T L Marsh, S D Crockett, S Syngal, R S Bresalier, D E Brenner
Prior studies have reported the prevalence of colorectal cancer (CRC) in average-risk screening population ages 50-75 to be 0.7%-1.0%.1,2 However, no estimates from studies enrolling individuals undergoing screening colonoscopy have been reported. The experience of ongoing studies enrolling average-risk individuals is that the prevalence rates are substantially lower. A 2020 study from a community-based cohort undergoing CRC screening with fecal immunochemical testing followed by diagnostic colonoscopy reported a CRC prevalence rate of 1...
September 20, 2021: Clinical Gastroenterology and Hepatology
#24
JOURNAL ARTICLE
Fang-Chi Hsu, Nicholas J Roberts, Erica Childs, Nancy Porter, Kari G Rabe, Ayelet Borgida, Chinedu Ukaegbu, Michael G Goggins, Ralph H Hruban, George Zogopoulos, Sapna Syngal, Steven Gallinger, Gloria M Petersen, Alison P Klein
Importance: Pathogenic germline variants in the ATM gene have been associated with pancreatic cancer risk. Although genetic testing identifies these variants in approximately 1% to 3% of unselected patients with pancreatic cancer, the lifetime risk of pancreatic cancer among individuals with pathogenic ATM variants has not been well estimated. Objective: To estimate age-specific penetrance of pancreatic cancer in individuals with a pathogenic variant in the ATM gene...
September 16, 2021: JAMA Oncology
#25
REVIEW
Britt B S L Houwen, Nahid Mostafavi, Jasper L A Vleugels, Robert Hüneburg, Christof Lamberti, Liseth Rivero-Sánchez, María Pellisé, Elena M Stoffel, Sapna Syngal, Jasmijn F Haanstra, Jan J Koornstra, Evelien Dekker, Yark Hazewinkel
INTRODUCTION: The additional diagnostic value of dye-based chromoendosocpy (CE) for surveillance of patients with Lynch syndrome is subject of debate. METHODS: To clarify this debate, we performed an individual patient data meta-analysis of randomized studies that compared CE with WLE for the detection of adenomas in patients with Lynch syndrome. RESULTS: Three randomized studies comprising 533 patients were included. The adenoma detection rate was 74/265 (28%) in patients randomized to WLE compared with 83/266 (31%) in patients randomized to CE (odds ratio 1...
April 2021: American Journal of Gastroenterology
#26
JOURNAL ARTICLE
Bryson W Katona, Nadim Mahmud, Mohamad Dbouk, Nuzhat Ahmad, Ankit Chhoda, Beth Dudley, Umar Hayat, Richard S Kwon, Linda S Lee, Anil K Rustgi, Chinedu Ukaegbu, Lisa Vasquez, Sarah Volk, Randall E Brand, Marcia I Canto, Amitabh Chak, James J Farrell, Fay Kastrinos, Elena M Stoffel, Sapna Syngal, Michael Goggins
BACKGROUND: COVID-19 pandemic-related disruptions to EUS-based pancreatic cancer surveillance in high-risk individuals remain uncertain. METHODS: Analysis of enrolled participants in the CAPS5 Study, a prospective multicenter study of pancreatic cancer surveillance in high-risk individuals. RESULTS: Amongst 693 enrolled high-risk individuals under active surveillance, 108 (16%) had an EUS scheduled during the COVID-19 pandemic-related shutdown (median length of 78 days) in the spring of 2020, with 97% of these procedures being canceled...
April 20, 2021: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
#27
JOURNAL ARTICLE
Leah H Biller, Miki Horiguchi, Hajime Uno, Chinedu Ukaegbu, Sapna Syngal, Matthew B Yurgelun
BACKGROUND & AIMS: Lynch syndrome (LS) is associated with increased risks of various gastrointestinal, gynecologic, genitourinary, and other cancers. Many clinical practice guidelines recommend that LS carriers' screening strategies be devised based on their family history of various cancers, in addition to age-, sex-, and gene-specific considerations. The aim of this study was to examine the association between family history and other clinical factors with LS carriers' histories of various cancers...
March 29, 2021: Gastroenterology
#28
Leah H Biller, Sapna Syngal, Matthew B Yurgelun
No abstract text is available yet for this article.
March 25, 2021: Familial Cancer
#29
JOURNAL ARTICLE
Kathleen F Mittendorf, Chinedu Ukaegbu, Marian J Gilmore, Nangel M Lindberg, Tia L Kauffman, Donna J Eubanks, Elizabeth Shuster, Jake Allen, Carmit McMullen, Heather Spencer Feigelson, Katherine P Anderson, Michael C Leo, Jessica Ezzell Hunter, Sonia Okuyama Sasaki, Jamilyn M Zepp, Sapna Syngal, Benjamin S Wilfond, Katrina A B Goddard
Lynch syndrome (LS) is the most common inherited cause of colorectal and endometrial cancers. Identifying individuals at risk for LS without personal cancer history requires detailed collection and assessment of family health history. However, barriers exist to family health history collection, especially in historically underserved populations. To improve LS risk assessment in historically underserved populations, we adapted the provider-facing PREdiction Model for gene Mutations (PREMM5 ™ model), a validated LS risk assessment model, into a patient-facing electronic application through an iterative development process involving expert and patient stakeholders...
March 23, 2021: Familial Cancer
#30
JOURNAL ARTICLE
Britt B S L Houwen, Nahid Mostafavi, Jasper L A Vleugels, Robert Hüneburg, Christof Lamberti, Liseth Rivero-Sánchez, María Pellisé, Elena M Stoffel, Sapna Syngal, Jasmijn F Haanstra, Jan J Koornstra, Evelien Dekker, Yark Hazewinkel
INTRODUCTION: The additional diagnostic value of dye-based chromoendosocpy (CE) for surveillance of patients with Lynch syndrome is subject of debate. METHODS: To clarify this debate, we performed an individual patient data meta-analysis of randomized studies that compared CE with WLE for the detection of adenomas in patients with Lynch syndrome. RESULTS: Three randomized studies comprising 533 patients were included. The adenoma detection rate was 74/265 (28%) in patients randomized to WLE compared with 83/266 (31%) in patients randomized to CE (odds ratio 1...
February 11, 2021: American Journal of Gastroenterology
#31
JOURNAL ARTICLE
Anu Chittenden, Sigurdis Haraldsdottir, Chinedu Ukaegbu, Meghan Underhill-Blazey, Shraddha Gaonkar, Hajime Uno, Lauren K Brais, Kimberly Perez, Brian M Wolpin, Sapna Syngal, Matthew B Yurgelun
PURPOSE: National guidelines recommend genetic counseling and multigene germline testing (GC/MGT) for all patients with pancreatic ductal adenocarcinoma (PDAC). This study's aim was to assess real-world effectiveness of implementing systematic GC/MGT for all patients with PDAC at a high-volume academic institution. METHODS: An iterative process for systematizing GC/MGT was developed in which gastrointestinal oncology providers at the Dana-Farber Cancer Institute were recommended to refer all patients with PDAC for GC/MGT (clinician-directed referral)...
January 13, 2021: JCO oncology practice
#32
Aasma Shaukat, Tonya Kaltenbach, Jason A Dominitz, Douglas J Robertson, Joseph C Anderson, Michael Cruise, Carol A Burke, Samir Gupta, David Lieberman, Sapna Syngal, Douglas K Rex
No abstract text is available yet for this article.
November 2020: Gastrointestinal Endoscopy
#33
REVIEW
Aasma Shaukat, Tonya Kaltenbach, Jason A Dominitz, Douglas J Robertson, Joseph C Anderson, Michael Cruise, Carol A Burke, Samir Gupta, David Lieberman, Sapna Syngal, Douglas K Rex
No abstract text is available yet for this article.
November 2020: Gastroenterology
#34
JOURNAL ARTICLE
Aasma Shaukat, Tonya Kaltenbach, Jason A Dominitz, Douglas J Robertson, Joseph C Anderson, Michael Cruise, Carol A Burke, Samir Gupta, David Lieberman, Sapna Syngal, Douglas K Rex
No abstract text is available yet for this article.
November 2020: American Journal of Gastroenterology
#35
JOURNAL ARTICLE
Aasma Shaukat, Tonya Kaltenbach, Jason A Dominitz, Douglas J Robertson, Joseph C Anderson, Michael Cruise, Carol A Burke, Samir Gupta, David Lieberman, Sapna Syngal, Douglas K Rex
No abstract text is available yet for this article.
November 4, 2020: American Journal of Gastroenterology
#36
JOURNAL ARTICLE
Suzanne P MacFarland, Jessica E Ebrahimzadeh, Kristin Zelley, Lubna Begum, Lee M Bass, Randall E Brand, Beth Dudley, Douglas S Fishman, Amanda Ganzak, Eve Karloski, Alicia Latham, Xavier Llor, Sharon Plon, Mary K Riordan, Sarah R Scollon, Zsofia K Stadler, Sapna Syngal, Chinedu Ukaegbu, Jennifer M Weiss, Matthew B Yurgelun, Garrett M Brodeur, Petar Mamula, Bryson W Katona
Juvenile polyposis syndrome (JPS) is a clinically diagnosed hamartomatous polyposis syndrome that increases the risk of gastrointestinal cancer. Approximately 40-50% of JPS is caused by a germline disease-causing variant (DCV) in the SMAD4 or BMPR1A genes. The aim of this study is to characterize the phenotype of DCV-negative JPS and compare it to DCV-positive JPS. Herein we analyze a cohort of 145 individuals with JPS from nine institutions, including both pediatric and adult centers. Data analyzed included age at diagnosis, family history, cancer history, need for colectomy/gastrectomy, and polyp number and location...
October 23, 2020: Cancer Prevention Research
#37
RANDOMIZED CONTROLLED TRIAL
Carol A Burke, Evelien Dekker, Patrick Lynch, N Jewel Samadder, Francesc Balaguer, Robert Hüneburg, John Burn, Antoni Castells, Steven Gallinger, Ramona Lim, Elena M Stoffel, Samir Gupta, Alex Henderson, Frank G Kallenberg, Priyanka Kanth, Victorine H Roos, Gregory G Ginsberg, Frank A Sinicrope, Christian P Strassburg, Eric Van Cutsem, James Church, Fiona Lalloo, Field F Willingham, Paul E Wise, William M Grady, Molly Ford, Jennifer M Weiss, Robert Gryfe, Anil K Rustgi, Sapna Syngal, Alfred Cohen
BACKGROUND: The efficacy and safety of combination therapy with eflornithine and sulindac, as compared with either drug alone, in delaying disease progression in patients with familial adenomatous polyposis are unknown. METHODS: We evaluated the efficacy and safety of the combination of eflornithine and sulindac, as compared with either drug alone, in adults with familial adenomatous polyposis. The patients were stratified on the basis of anatomical site with the highest polyp burden and surgical status; the strata were precolectomy (shortest projected time to disease progression), rectal or ileal pouch polyposis after colectomy (longest projected time), and duodenal polyposis (intermediate projected time)...
September 10, 2020: New England Journal of Medicine
#38
JOURNAL ARTICLE
Chinedu Ukaegbu, Zohar Levi, Tara D Fehlmann, Hajime Uno, Anu Chittenden, Jennifer A Inra, Shilpa Grover, Fay Kastrinos, Sapna Syngal, Matthew B Yurgelun
Germline variants in the APC and MUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in individuals of different ancestries. The aim of this study was to evaluate the prevalence of APC, monoallelic MUTYH and biallelic MUTYH germline variants in Ashkenazi Jewish (AJ) and Other Ancestry (OA) individuals with colorectal adenomas. We studied 7225 individuals with colorectal adenomas who had germline APC and MUTYH testing at a commercial laboratory. Cross-sectional medical history data were extracted from provider-completed test requisition forms...
August 3, 2020: Familial Cancer
#39
Tonya Kaltenbach, Joseph C Anderson, Carol A Burke, Jason A Dominitz, Samir Gupta, David Lieberman, Douglas J Robertson, Aasma Shaukat, Sapna Syngal, Douglas K Rex
No abstract text is available yet for this article.
March 2020: Gastroenterology
#40
Tonya Kaltenbach, Joseph C Anderson, Carol A Burke, Jason A Dominitz, Samir Gupta, David Lieberman, Douglas J Robertson, Aasma Shaukat, Sapna Syngal, Douglas K Rex
No abstract text is available yet for this article.
March 2020: Gastrointestinal Endoscopy
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