Read by QxMD icon Read

Lynch syndrome

Tae Jun Kim, Eun Ran Kim, Sung Noh Hong, Young-Ho Kim, Jung Wook Huh, Yoon Ah Park, Yong Beom Cho, Seong Hyeon Yun, Hee Cheol Kim, Woo Yong Lee, Kiyoun Kim, Kyunga Kim, Dong Kyung Chang
BACKGROUND: The survival benefit of extensive colectomy is controversial in Lynch syndrome, and risk factors for metachronous colorectal cancer (CRC) after segmental colectomy are unclear. OBJECTIVE: The aim of this study was to investigate the survival outcome and risk of metachronous CRC after surgery in Lynch syndrome patients diagnosed with their first CRC. METHODS: Overall, 106 patients with Lynch syndrome who underwent surgery for CRC were included in the study...
October 20, 2016: Annals of Surgical Oncology
Takashi Takeda, Kouji Banno, Megumi Yanokura, Masataka Adachi, Moito Iijima, Haruko Kunitomi, Kanako Nakamura, Miho Iida, Yuya Nogami, Kiyoko Umene, Kenta Masuda, Yusuke Kobayashi, Wataru Yamagami, Akira Hirasawa, Eiichiro Tominaga, Nobuyuki Susumu, Daisuke Aoki
Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (MLH1) and MutS homolog 2 (MSH2) has been detected in peripheral blood cells of patients with colorectal cancer. This methylation is referred to as epimutation. Methylation of these genes has not been studied in an unselected series of endometrial cancer cases. Therefore, we examined methylation of MLH1, MSH2, and MSH6 promoter regions of peripheral blood cells in 206 patients with endometrial cancer using a methylation-specific polymerase chain reaction (MSP)...
October 14, 2016: Genes
E Stelloo, A M L Jansen, E M Osse, R A Nout, C L Creutzberg, D Ruano, D N Church, H Morreau, V T H B M Smit, T van Wezel, T Bosse
BACKGROUND: Mismatch repair (MMR)-deficiency analysis is increasingly recommended for all endometrial cancers, as it identifies Lynch syndrome-patients, and is emerging as a prognostic classifier to guide adjuvant treatment. The aim of this study was to define the optimal approach for MMR-deficiency testing and to clarify discrepancies between microsatellite instability (MSI) analysis and immunohistochemical (IHC) analysis of MMR protein expression. PATIENTS AND METHODS: 696 endometrial cancers were analyzed for MSI (pentaplex panel) and MMR protein expression (IHC)...
October 13, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Marina J Corines, Jada G Hamilton, Emily Glogowski, Chris A Anrig, Rachael Goldberg, Kate Niehaus, Erin Salo-Mullen, Megan Harlan, Margaret R Sheehan, Magan Trottier, Asad Ahsraf, Christina Tran, Lauren Jacobs, Rohini Rau-Murthy, Anne G Lincoln, Mark E Robson, Jose G Guillem, Arnold J Markowitz, Kenneth Offit, Zsofia K Stadler
Few reports of educational and counseling support resources exist for Lynch syndrome (LS), a disorder requiring multi-organ cancer screening and specialized medical care throughout adult life. Here we describe the development and efficacy of two resources designed to address this need, the Memorial Sloan Kettering Cancer Center Clinical Genetics Service annual Lynch Syndrome Educational Workshop (LSEW), and a quarterly Lynch Syndrome Patient Advocacy Network (LSPAN) support group. The LSEW and LSPAN were implemented beginning in 2012...
October 12, 2016: Journal of Genetic Counseling
Rossella Graffeo, Luca Livraghi, Olivia Pagani, Aron Goldhirsch, Ann H Partridge, Judy E Garber
PURPOSE: Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals at high risk for these diseases. Genetic counseling and testing have been incorporated into oncological care to help and complete management and treatment strategies. Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e...
October 12, 2016: Breast Cancer Research and Treatment
Jennifer M Johnson, Jason Chen, Siraj M Ali, Inderpreet K Dardi, Madalina Tuluc, David Cognetti, Barbara Campling, Ashwin R Sama
No abstract text is available yet for this article.
October 6, 2016: Journal of Gastrointestinal Cancer
Holly L Harper, Jesse K McKenney, Brandie Heald, Andrew Stephenson, Steven C Campbell, Thomas Plesec, Cristina Magi-Galluzzi
Increased risk for upper tract urothelial carcinoma is described in patients with Lynch syndrome, caused by germline mutations in mismatch repair genes. We aimed to identify the frequency of mismatch repair protein loss in upper tract urothelial carcinoma and its potential for identifying an association with Lynch syndrome. We queried our database to identify upper tract urothelial carcinomas. Patients were cross-referenced for history of colorectal carcinoma or other common Lynch syndrome-associated neoplasms to enrich for potential Lynch syndrome cases...
October 7, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Yvonne Bombard, Linda Rozmovits, Anne Sorvari, Corinne Daly, June C Carroll, Erin Kennedy, Linda Rabeneck, Nancy N Baxter
PURPOSE: Population-based reflex testing of colorectal tumors can identify individuals with Lynch syndrome (LS), but there is debate regarding the type of patient discretion such a program warrants. We examined health-care providers' views and experiences to inform the design of a reflex-testing program and their perspectives regarding an opt-out option. METHODS: We interviewed providers managing LS or colorectal cancer patients, including surgeons, genetic counselors, oncologists, primary-care physicians, and gastroenterologists...
October 6, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Kyle E Horst, Susan C Modesitt
OBJECTIVES: Endometrial cancer remains the fourth most common malignancy among US women, and hormonal contraceptives drastically reduce this risk. The study objectives were to assess the prescribing patterns, counseling practices, and knowledge of family physicians and obstetrician/gynecologists (OB/GYNs) regarding hormonal contraceptives, obesity, and cancer prevention. METHODS: A 25-question survey was mailed to 4600 OB/GYNs and family practitioners licensed in Virginia to assess self-reported hormonal contraceptive prescription practices, patient evaluation and counseling, and gynecologic oncology knowledge...
October 2016: Southern Medical Journal
P S Parfrey, E Dicks, O Parfrey, P J McNicholas, H Noseworthy, M O Woods, C Negriin, J Green
As Newfoundland has the highest rate of familial CRC in the world, we started a population-based clinic to provide colonoscopic and Lynch syndrome (LS) screening recommendations to families of CRC patients based on family risk. Of 1091 incident patients 52% provided a family history. Seventy-two percent of families were at low or intermediate-low risk of CRC and colonoscopic screening recommendations were provided by letter. Twenty eight per cent were at high and intermediate-high risk and were referred to the genetic counsellor, but only 30% (N = 48) were interviewed by study end...
October 3, 2016: Clinical Genetics
P Flanagan, P O'Lorcain, S Cotter, J Connell, B Lynch, R Cunney, D O'Flanagan
Acute Flaccid Paralysis (AFP) surveillance, including case investigation and specimen collection is a gold standard method for poliomyelitis surveillance. The expected annual non-polio AFP rate <15 years of age in Ireland is = 1/100 000 population. This study reviewed all cases of AFP reported to the Irish Paediatric Surveillance Unit and the Health Protection Surveillance Centre between January 2009 and December 2014 and compared reporting rates with the expected incidence rate annually. We assessed quality of surveillance data in terms of completeness of investigation for each case reported...
2016: Irish Medical Journal
Rajvinder Singh, Leonardo Zorrón Cheng Tao Pu, Doreen Koay, Alastair Burt
It is currently known that colorectal cancers (CRC) arise from 3 different pathways: the adenoma to carcinoma chromosomal instability pathway (50%-70%); the mutator "Lynch syndrome" route (3%-5%); and the serrated pathway (30%-35%). The World Health Organization has classified serrated polyps into three types of lesions: hyperplastic polyps (HP), sessile serrated adenomas/polyps (SSA/P) and traditional serrated adenomas (TSA), the latter two strongly associated with development of CRCs. HPs do not cause cancer and TSAs are rare...
September 14, 2016: World Journal of Gastroenterology: WJG
Yanni Chen, Michelle Peate, Rajneesh Kaur, Bettina Meiser, Tim Wong, Judy Kirk, Robyn L Ward, Annabel Goodwin, Finlay Macrae, Janet Hiller, Alison H Trainer, Gillian Mitchell
Recent research has shown that aspirin reduces the risk of cancers associated with Lynch Syndrome. However, uncertainty exists around the optimal dosage, treatment duration and whether the benefits of aspirin as a risk-reducing medication (RRM) outweigh adverse medication related side-effects. Little is known about clinicians' attitudes, current practice, and perceived barriers to recommending aspirin as a RRM. To explore the attitudes of clinicians who discuss risk management options with patients with Lynch Syndrome towards using aspirin as a RRM...
September 27, 2016: Familial Cancer
Michelle Chi, Isaac P Syrop, Jonas M Sokolof
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Basilio Pecorino, Cinzia Rubino, Vito Fabio Guardalà, Antonio Galia, Paolo Scollo
OBJECTIVE: To evaluate the importance of Lynch syndrome associated risk screening in the patients aged less than 50 years affected from endometrial cancer. METHODS: From 2007 to 2014, 41 patients affected from endometrial cancer and aged less than 50 years underwent surgery at the Complex Operative Unit of Gynecology and Obstetrics, Cannizzaro Hospital of Catania, Italy. They were selected to undergo mismatch repair gene mutation analysis using immunohistochemistry (IHC; four markers: MLH1, MSH2, MSH6, PMS2) and microsatellite instability (MSI) test...
September 1, 2016: Journal of Gynecologic Oncology
Laila Bouguenouch, Imane Samri, Khadija Belhassan, Hanane Sayel, Meriame Abbassi, Sanae Bennis, Dafr Allah Benajah, Adil Ibrahimi, Afaf Amarti, Karim Ouldim
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancers. It increases cancer susceptibility, the risk of colorectal cancer in first-degree, endometrial cancer in women, and to a lesser extent, other cancers (ovarian, small bowel, stomach, urinary tract and hepatobiliary). Thus, the cumulative risk of developing colorectal cancer or endometrial cancer at the age of 80 years rises to 20 and 40% respectively. These cancers are characterized by a positive family history, their occurrence at an early age, and by the development of metachronous cancers in the same individual...
2016: Pan African Medical Journal
Henry T Lynch, Marc Rendell, Trudy G Shaw, Peter Silberstein, Binh T Ngo
In this issue of Cancer Research, Almassalha and colleagues have proposed a new concept of the development of malignancy, that of the greater genomic landscape. They propose a stressor-related exploration of intracellular genomic sites as a response mechanism. This process can express sites with beneficial or deleterious effects, among them those that promote cell proliferation. They point out that their conception is broader, although certainly inclusive, of the process of gene induction. The authors view the physical process of chromatin reorganization as central to the exploration of the genomic landscape...
October 1, 2016: Cancer Research
Avrum Spira, Mary L Disis, John T Schiller, Eduardo Vilar, Timothy R Rebbeck, Rafael Bejar, Trey Ideker, Janine Arts, Matthew B Yurgelun, Jill P Mesirov, Anjana Rao, Judy Garber, Elizabeth M Jaffee, Scott M Lippman
Prevention is an essential component of cancer eradication. Next-generation sequencing of cancer genomes and epigenomes has defined large numbers of driver mutations and molecular subgroups, leading to therapeutic advances. By comparison, there is a relative paucity of such knowledge in premalignant neoplasia, which inherently limits the potential to develop precision prevention strategies. Studies on the interplay between germ-line and somatic events have elucidated genetic processes underlying premalignant progression and preventive targets...
September 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
Jinhua Piao, Paul Friedman, Sameer Siddiqui, Jula Veerapong, Jin-Ping Lai
Synchronous colorectal cancer (CRC) and renal cell carcinoma (RCC) is relatively rare, particularly when the synchronous RCC is of papillary subtype, which is exceedingly rare. We report a case of a 63-year-old Caucasian man with synchronous CRC and type 1 papillary RCC. After the patient presented with three episodes of melena, colonoscopy followed by biopsy confirmed rectal adenocarcinoma. The computed tomographic imaging also showed an incidental mass of the upper pole of the left kidney suspicious for RCC...
September 2016: Anticancer Research
Felipe Carneiro DA Silva, Patrik Wernhoff, Constantino Dominguez-Barrera, Mev Dominguez-Valentin
In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have significant phenotypic overlapping that makes clinical diagnosis a challenging task. Distinguishing among the HNPCC disorders is clinically important, as the approach to surveillance for patients and their at-risk family members differs according to risks for colonic and extracolonic cancer associated with each syndrome...
September 2016: Anticancer Research
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"