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Sapna syngal

Jaclyn C Watkins, Eric J Yang, Michael G Muto, Colleen M Feltmate, Ross S Berkowitz, Neil S Horowitz, Sapna Syngal, Matthew B Yurgelun, Anu Chittenden, Jason L Hornick, Christopher P Crum, Lynette M Sholl, Brooke E Howitt
Although consensus has yet to be reached on universal mismatch-repair (MMR) protein immunohistochemical (IHC) screening for Lynch syndrome (LS) in endometrial cancer (EC), an increasing number of institutions have adopted universal screening protocols similar to those used for colorectal carcinoma. Here we describe our institution's experience with a prospective universal screening protocol in which all ECs resected over a period of 19 months (n=242) were screened for MLH1, PMS2, MSH2, and MSH6 deficiencies using IHC, followed by MLH1 promoter methylation testing when appropriate...
August 23, 2016: International Journal of Gynecological Pathology
Jan T Lowery, Dennis J Ahnen, Paul C Schroy, Heather Hampel, Nancy Baxter, C Richard Boland, Randall W Burt, Lynn Butterly, Megan Doerr, Mary Doroshenk, W Gregory Feero, Nora Henrikson, Uri Ladabaum, David Lieberman, Elizabeth G McFarland, Susan K Peterson, Martha Raymond, N Jewel Samadder, Sapna Syngal, Thomas K Weber, Ann G Zauber, Robert Smith
Persons with a family history (FH) of colorectal cancer (CRC) or adenomas that are not due to known hereditary syndromes have an increased risk for CRC. An understanding of these risks, screening recommendations, and screening behaviors can inform strategies for reducing the CRC burden in these families. A comprehensive review of the literature published within the past 10 years has been performed to assess what is known about cancer risk, screening guidelines, adherence and barriers to screening, and effective interventions in persons with an FH of CRC and to identify FH tools used to identify these individuals and inform care...
September 1, 2016: Cancer
Rosa M Xicola, Sneha Bontu, Brian J Doyle, Jamie Rawson, Pilar Garre, Esther Lee, Miguel de la Hoya, Xavier Bessa, Joan Clofent, Luis Bujanda, Francesc Balaguer, Sergi Castellví-Bel, Cristina Alenda, Rodrigo Jover, Clara Ruiz-Ponte, Sapna Syngal, Montserrat Andreu, Angel Carracedo, Antoni Castells, Polly A Newcomb, Noralane Lindor, John D Potter, John A Baron, Nathan A Ellis, Trinidad Caldes, Xavier LLor
The purpose of this study was to identify novel colorectal cancer (CRC)-causing alleles in unexplained familial CRC cases. In order to do so, coding regions in five candidate genes (MGMT, AXIN2, CTNNB1, TGFBR1 and TGFBR2) were sequenced in 11 unrelated microsatellite-stable hereditary non-polyposis CRC (MSS HNPCC) cases. Selected genetic variants were genotyped in a discovery set of 27 MSS HNPCC cases and 85 controls. One genetic variant, rs67687202, in TGFBR1 emerged as significant (P = 0.002), and it was genotyped in a replication set of 87 additional MSS HNPCC-like cases and 338 controls where it was also significantly associated with MSS HNPCC cases (P = 0...
August 2016: Carcinogenesis
Erica J Childs, Kari G Chaffee, Steven Gallinger, Sapna Syngal, Ann G Schwartz, Michele L Cote, Melissa L Bondy, Ralph H Hruban, Stephen J Chanock, Robert N Hoover, Charles S Fuchs, David N Rider, Laufey T Amundadottir, Rachael Stolzenberg-Solomon, Brian M Wolpin, Harvey A Risch, Michael G Goggins, Gloria M Petersen, Alison P Klein
Individuals from pancreatic cancer families are at increased risk, not only of pancreatic cancer, but also of melanoma, breast, ovarian, and colon cancers. While some of the increased risk may be due to mutations in high-penetrance genes (i.e., BRCA2, PALB2, ATM, p16/CDKN2A or DNA mismatch repair genes), common genetic variants may also be involved. In a high-risk population of cases with either a family history of pancreatic cancer or early-onset pancreatic cancer (diagnosis before the age of 50 years), we examined the role of genetic variants previously associated with risk of pancreatic, breast, ovarian, or prostate cancer...
July 2016: Cancer Epidemiology, Biomarkers & Prevention
Aparna R Parikh, Nancy L Keating, Pang-Hsiang Liu, Stacy W Gray, Carrie N Klabunde, Katherine L Kahn, David A Haggstrom, Sapna Syngal, Benjamin Kim
PURPOSE: Little is known about the roles of genetic and molecular testing and Lynch syndrome screening in the formulation of predictive and prognostic assessments for patients with stage II colorectal cancer (CRC). METHODS: From 2012 to 2013, we surveyed medical oncologists in the Cancer Care Outcomes Research and Surveillance Consortium and evaluated oncologists' selection of microsatellite instability (MSI) and/or immunohistochemistry (IHC) for mismatch repair (MMR) proteins, germline testing for MMR genes, BRAF and KRAS mutation analysis, and Oncotype DX in stage II CRC...
March 2016: Journal of Oncology Practice
Nicholas J Roberts, Alexis L Norris, Gloria M Petersen, Melissa L Bondy, Randall Brand, Steven Gallinger, Robert C Kurtz, Sara H Olson, Anil K Rustgi, Ann G Schwartz, Elena Stoffel, Sapna Syngal, George Zogopoulos, Syed Z Ali, Jennifer Axilbund, Kari G Chaffee, Yun-Ching Chen, Michele L Cote, Erica J Childs, Christopher Douville, Fernando S Goes, Joseph M Herman, Christine Iacobuzio-Donahue, Melissa Kramer, Alvin Makohon-Moore, Richard W McCombie, K Wyatt McMahon, Noushin Niknafs, Jennifer Parla, Mehdi Pirooznia, James B Potash, Andrew D Rhim, Alyssa L Smith, Yuxuan Wang, Christopher L Wolfgang, Laura D Wood, Peter P Zandi, Michael Goggins, Rachel Karchin, James R Eshleman, Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein, Ralph H Hruban, Alison P Klein
UNLABELLED: Pancreatic cancer is projected to become the second leading cause of cancer-related death in the United States by 2020. A familial aggregation of pancreatic cancer has been established, but the cause of this aggregation in most families is unknown. To determine the genetic basis of susceptibility in these families, we sequenced the germline genomes of 638 patients with familial pancreatic cancer and the tumor exomes of 39 familial pancreatic adenocarcinomas. Our analyses support the role of previously identified familial pancreatic cancer susceptibility genes such as BRCA2, CDKN2A, and ATM, and identify novel candidate genes harboring rare, deleterious germline variants for further characterization...
February 2016: Cancer Discovery
Fay Kastrinos, Rohit P Ojha, Celine Leenen, Carmelita Alvero, Rowena C Mercado, Judith Balmaña, Irene Valenzuela, Francesc Balaguer, Roger Green, Noralane M Lindor, Stephen N Thibodeau, Polly Newcomb, Aung Ko Win, Mark Jenkins, Daniel D Buchanan, Lucio Bertario, Paola Sala, Heather Hampel, Sapna Syngal, Ewout W Steyerberg
BACKGROUND: Recent guidelines recommend the Lynch Syndrome prediction models MMRPredict, MMRPro, and PREMM1,2,6 for the identification of MMR gene mutation carriers. We compared the predictive performance and clinical usefulness of these prediction models to identify mutation carriers. METHODS: Pedigree data from CRC patients in 11 North American, European, and Australian cohorts (6 clinic- and 5 population-based sites) were used to calculate predicted probabilities of pathogenic MLH1, MSH2, or MSH6 gene mutations by each model and gene-specific predictions by MMRPro and PREMM1,2,6...
February 2016: Journal of the National Cancer Institute
Mark E Robson, Angela R Bradbury, Banu Arun, Susan M Domchek, James M Ford, Heather L Hampel, Stephen M Lipkin, Sapna Syngal, Dana S Wollins, Noralane M Lindor
The American Society of Clinical Oncology (ASCO) has long affirmed that the recognition and management of individuals with an inherited susceptibility to cancer are core elements of oncology care. ASCO released its first statement on genetic testing in 1996 and updated that statement in 2003 and 2010 in response to developments in the field. In 2014, the Cancer Prevention and Ethics Committees of ASCO commissioned another update to reflect the impact of advances in this area on oncology practice. In particular, there was an interest in addressing the opportunities and challenges arising from the application of massively parallel sequencing-also known as next-generation sequencing-to cancer susceptibility testing...
November 1, 2015: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Matthew B Yurgelun, Serena Masciari, Victoria A Joshi, Rowena C Mercado, Noralane M Lindor, Steven Gallinger, John L Hopper, Mark A Jenkins, Daniel D Buchanan, Polly A Newcomb, John D Potter, Robert W Haile, Raju Kucherlapati, Sapna Syngal
IMPORTANCE: Li-Fraumeni syndrome, usually characterized by germline TP53 mutations, is associated with markedly elevated lifetime risks of multiple cancers, and has been linked to an increased risk of early-onset colorectal cancer. OBJECTIVE: To examine the frequency of germline TP53 alterations in patients with early-onset colorectal cancer. DESIGN, SETTING, AND PARTICIPANTS: This was a multicenter cross-sectional cohort study of individuals recruited to the Colon Cancer Family Registry (CCFR) from 1998 through 2007 (genetic testing data updated as of January 2015)...
May 2015: JAMA Oncology
Jessica Ezzell Hunter, Jamilyn M Zepp, Mari J Gilmore, James V Davis, Elizabeth J Esterberg, Kristin R Muessig, Susan K Peterson, Sapna Syngal, Louise S Acheson, Georgia L Wiesner, Jacob A Reiss, Katrina A B Goddard
BACKGROUND: Universal tumor screening for Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), has been recommended among all patients newly diagnosed with CRC. However, there is limited literature regarding patient perspectives of tumor screening for Lynch syndrome among patients with CRC who are not selected for screening based on family history criteria. METHODS: A total of 145 patients aged 39 to 87 years were administered surveys assessing perceived risk, patient perspectives, and potential benefits of and barriers to tumor screening for Lynch syndrome...
September 15, 2015: Cancer
Meghan Underhill, Donna Berry, Emily Dalton, Jaclyn Schienda, Sapna Syngal
BACKGROUND: Pancreatic cancer (PancCa) is recognized as a component of many well-described hereditary cancer syndromes. Minimal research has focused on patient needs and experiences living with this risk. PURPOSE: To understand the meaning and experience of living with familial PancCa risk and to explore experiences related to screening and prevention of PancCa. METHODS: Participants underwent semi-structured, in-depth interviews. Adults without PancCa and who met familial or hereditary risk criteria were eligible...
2015: Hereditary Cancer in Clinical Practice
Matthew B Yurgelun, Brian Allen, Rajesh R Kaldate, Karla R Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B Roa, Richard J Wenstrup, Anne-Renee Hartman, Sapna Syngal
BACKGROUND & AIMS: Multigene panels are commercially available tools for hereditary cancer risk assessment that allow for next-generation sequencing of numerous genes in parallel. However, it is not clear if these panels offer advantages over traditional genetic testing. We investigated the number of cancer predisposition gene mutations identified by parallel sequencing in individuals with suspected Lynch syndrome. METHODS: We performed germline analysis with a 25-gene, next-generation sequencing panel using DNA from 1260 individuals who underwent clinical genetic testing for Lynch syndrome from 2012 through 2013...
September 2015: Gastroenterology
Eun Ji Shin, Mark Topazian, Michael G Goggins, Sapna Syngal, John R Saltzman, Jeffrey H Lee, James J Farrell, Marcia I Canto
BACKGROUND: Studies comparing linear and radial EUS for the detection of pancreatic lesions in an asymptomatic population with increased risk for pancreatic cancer are lacking. OBJECTIVES: To compare pancreatic lesion detection rates between radial and linear EUS and to determine the incremental diagnostic yield of a second EUS examination. DESIGN: Randomized controlled tandem study. SETTING: Five academic centers in the United States...
November 2015: Gastrointestinal Endoscopy
Jennifer L Schneider, James Davis, Tia L Kauffman, Jacob A Reiss, Cheryl McGinley, Kathleen Arnold, Jamilyn Zepp, Marian Gilmore, Kristin R Muessig, Sapna Syngal, Louise Acheson, Georgia L Wiesner, Susan K Peterson, Katrina A B Goddard
PURPOSE: Evidence-based guidelines recommend that all newly diagnosed colon cancer be screened for Lynch syndrome (LS), but best practices for implementing universal tumor screening have not been extensively studied. We interviewed a range of stakeholders in an integrated health-care system to identify initial factors that might promote or hinder the successful implementation of a universal LS screening program. METHODS: We conducted interviews with health-plan leaders, managers, and staff...
February 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
McKinsey L Goodenberger, Brittany C Thomas, Douglas Riegert-Johnson, C Richard Boland, Sharon E Plon, Mark Clendenning, Aung Ko Win, Leigha Senter, Steven M Lipkin, Zsofia K Stadler, Finlay A Macrae, Henry T Lynch, Jeffrey N Weitzel, Albert de la Chapelle, Sapna Syngal, Patrick Lynch, Susan Parry, Mark A Jenkins, Steven Gallinger, Spring Holter, Melyssa Aronson, Polly A Newcomb, Terrilea Burnett, Loïc Le Marchand, Pavel Pichurin, Heather Hampel, Jonathan P Terdiman, Karen H Lu, Stephen Thibodeau, Noralane M Lindor
Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied, and multiple professional societies have proposed clinical management guidelines for affected individuals. Several studies have demonstrated a reduced penetrance for monoallelic carriers of PMS2 mutations compared with the other mismatch repair (MMR) genes, but clinical management guidelines have largely proposed the same screening recommendations for all MMR gene carriers...
January 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sapna Syngal, Randall E Brand, James M Church, Francis M Giardiello, Heather L Hampel, Randall W Burt
This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives...
February 2015: American Journal of Gastroenterology
Neda Rastegar, Luciana G Matteoni-Athayde, John Eng, Naoki Takahashi, Eric P Tamm, Koenraad J Mortele, Sapna Syngal, Daniel Margolis, Anne Marie Lennon, Christopher L Wolfgang, Elliot K Fishman, Ralph H Hruban, Michael Goggins, Marcia I Canto, Ihab R Kamel
PURPOSE: We investigated the incremental diagnostic yield of S-MRCP in a population with high prevalence of small pancreatic cysts. METHODS: Standard MRCP protocol was performed with and without secretin using 1.5 T units in subjects undergoing pancreatic screening because of a strong family history of pancreatic cancer as part of the multicenter Cancer of the Pancreas Screening-3 trial (CAPS 3). All studies were reviewed prospectively by two independent readers who recorded the presence and number of pancreatic cysts, the presence of visualized ductal communication before and after secretin, and the degree of confidence in the diagnoses...
April 2015: European Journal of Radiology
Jennifer A Inra, Ewout W Steyerberg, Shilpa Grover, Ashley McFarland, Sapna Syngal, Fay Kastrinos
PURPOSE: The aim of this study was to assess whether differences in frequency and phenotype of APC and MUTYH mutations exist among racially/ethnically diverse populations. METHODS: We studied 6,169 individuals with a personal and/or family history of colorectal cancer (CRC) and polyps. APC testing involved full sequencing/large rearrangement analysis (FS/LRA); MUTYH involved "panel testing" (for Y165C, G382D mutations) or FS/LRA performed by Myriad Genetics, a commercial laboratory...
October 2015: Genetics in Medicine: Official Journal of the American College of Medical Genetics
James R Eshleman, Alexis L Norris, Yoshihiko Sadakari, Marija Debeljak, Michael Borges, Colleen Harrington, Elaine Lin, Aaron Brant, Thomas Barkley, J Alejandro Almario, Mark Topazian, James Farrell, Sapna Syngal, Jeffrey H Lee, Jun Yu, Ralph H Hruban, Mitsuro Kanda, Marcia Irene Canto, Michael Goggins
BACKGROUND & AIMS: Pancreatic imaging can identify neoplastic cysts but not microscopic neoplasms. Mutation analysis of pancreatic fluid after secretin stimulation might identify microscopic neoplasias in the pancreatic duct system. We determined the prevalence of mutations in KRAS and guanine nucleotide-binding protein α-stimulating genes in pancreatic juice from subjects undergoing endoscopic ultrasound for suspected pancreatic intraepithelial neoplasia, intraductal papillary mucinous neoplasms, or pancreatic adenocarcinoma...
May 2015: Clinical Gastroenterology and Hepatology
Jennifer A Inra, Sapna Syngal
The incidence and mortality rates of colorectal cancer (CRC) have been decreasing in adults over 50 years of age, however, these rates have been increasing in adults under 50. The majority of CRC in young adults is sporadic, and is likely due to behavioral and environmental causes, however the exact etiology still remains unclear. The minority of CRC in this population is due to inherited CRC syndromes. Young adults with CRC are often symptomatic (abdominal pain, rectal bleeding), and diagnosis is often delayed due to reasons such as under-utilized health care services, and physicians attributing symptoms to diagnoses other than CRC...
March 2015: Digestive Diseases and Sciences
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