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https://www.readbyqxmd.com/read/28643760/validation-of-microsatellite-instability-histology-scores-with-bethesda-guidelines-in-hereditary-nonpolyposis-colorectal-cancer
#1
Mustafa Kaya, Fatih Basak, Abdullah Sisik, Mustafa Hasbahceci, Gurhan Bas, Orhan Alimoglu, Cumhur Selçuk Topal, Gozde Kir
AIMS: Hereditary nonpolyposis colorectal cancer (HNPCC) is a subgroup of colorectal cancer (CRC) which should be differentiated because of the high risk for additional cancers and risk evaluation for other family members, especially for CRC. It is not practical to perform genetic testing for all CRC patients; therefore, various prediction modalities, for example, Bethesda guideline (BG) were studied in the literature. We aimed to assess the association of microsatellite instability (MSI), histology scores, and BG for predicting HNPCC risk...
April 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28643286/identifying-primary-care-physicians-continuing-education-needs-by-examining-clinical-practices-attitudes-and-barriers-to-screening-across-multiple-cancers
#2
Brenna Lynn, Alexandra Hatry, Chloe Burnett, Lisa Kan, Tunde Olatunbosun, Bob Bluman
Population-based cancer screening for cervical, breast, and colorectal cancers improves patient outcomes, yet screening rates remain low for some cancers. Despite studies investigating physician perceptions and practices for screening, many have focused on individual cancers and lack primary care physicians' (PCPs) realities around screening for multiple cancers. We surveyed 887 PCPs in British Columbia (BC) to examine practices, beliefs, barriers, and learning needs towards cancer screening across breast, cervical, colorectal, prostate, as well as hereditary predisposition to cancer...
June 22, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/28643016/screening-for-lynch-syndrome-in-young-saudi-colorectal-cancer-patients-using-microsatellite-instability-testing-and-next-generation-sequencing
#3
Masood Alqahtani, Caitlin Edwards, Natasha Buzzacott, Karen Carpenter, Khalid Alsaleh, Abdulmalik Alsheikh, Waleed Abozeed, Miral Mashhour, Afnan Almousa, Yousef Housawi, Shareefa Al Hawwaj, Barry Iacopetta
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients...
June 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28640387/dna-mismatch-repair-deficiency-and-hereditary-syndromes-in-latino-patients-with-colorectal-cancer
#4
Charité N Ricker, Diana L Hanna, Cheng Peng, Nathalie T Nguyen, Mariana C Stern, Stephanie L Schmit, Greg E Idos, Ravi Patel, Steven Tsai, Veronica Ramirez, Sonia Lin, Vinay Shamasunadara, Afsaneh Barzi, Heinz-Josef Lenz, Jane C Figueiredo
BACKGROUND: The landscape of hereditary syndromes and clinicopathologic characteristics among US Latino/Hispanic individuals with colorectal cancer (CRC) remains poorly understood. METHODS: A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Information regarding CRC risk factors was elicited through interviews, and treatment and survival data were abstracted from clinical charts. Tumor studies and germline genetic testing results were collected from medical records or performed using standard molecular methods...
June 22, 2017: Cancer
https://www.readbyqxmd.com/read/28633170/teaching-primary-care-genetics-a-randomized-controlled-trial-comparison
#5
Deanna Telner, June C Carroll, Glenn Regehr, Diana Tabak, Kara Semotiuk, Risa Freeman
BACKGROUND AND OBJECTIVE: Given the increasing discussions of the impact of genetic medicine within family medicine, it is important to determine the most effective way of teaching this material to family medicine residents (FMRs). The objective of this study was to evaluate and compare the impact of three methods of delivering primary care genetic content to FMRs. METHODS: Curriculum materials and assessment tools were created to teach and evaluate knowledge, skills, and attitudes around four core competencies in primary care genetics, with a focus on hereditary colorectal cancer (CRC)...
June 2017: Family Medicine
https://www.readbyqxmd.com/read/28624559/hereditary-factors-are-unlikely-behind-unusual-pattern-of-early-onset-colorectal-cancer-in-egyptians-a-study-of-family-history-and-pathology-features-in-egyptians-with-large-bowel-cancer-cross-sectional-study
#6
Ahmed A Abou-Zeid, Wael A Jumuah, Essam F Ebied, Karim Sabry Abd El Samee Atia, Yasser El Ghamrini, Dina A Somaie
BACKGROUND: Colorectal cancer in Egypt has a higher incidence in young patients compared to western countries, where the disease is more prevalent in the old age group. This difference has been attributed to higher incidence of hereditary cancers in young Egyptian patients. The aim of this study is to compare the family history criteria and pathology features of tumors in young (≤40 years) and old (>40 years) Egyptian patients with adenocarcinoma of the colon and rectum. MATERIALS AND METHODS: This is the analysis of our prospectively collected data on the pathology features of tumors in 313 consecutive patients (133 young, 180 old) with colorectal cancer presenting to the Department of Surgery within an eight-year period...
June 15, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#7
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28607805/simplified-microsatellite-instability-detection-protocol-provides-equivalent-sensitivity-to-robust-detection-strategies-in-lynch-syndrome-patients
#8
Hadi Babaei, Mehrdad Zeinalian, Mohammad Hassan Emami, Mortaza Hashemzadeh, Najmeh Farahani, Rasoul Salehi
OBJECTIVE: : Germline mutations in mismatch repair (MMR) genes cause Lynch syndrome (LS). LS is an inherited disease, and an important consequence of MMR deficiency is microsatellite instability (MSI) phenotype. MSI phenotype influences the efficacy of 5 fluorouracil (5-FU) chemotherapy. Reproducible, cost effective, and easy to perform laboratory tests are required to include MSI detection in routine laboratory practice. Evaluation of CAT25 as monomorphic short tandem repeat sequence enables CAT25 to be an efficient screening tool among hereditary nonpolyposis colorectal cancer (HNPCC) patients compared with other methods used currently...
May 2017: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/28600700/co-occurrence-of-lynch-syndrome-and-juvenile-polyposis-syndrome-confirmed-by-multigene-panel-testing
#9
Rachel Silva-Smith, Daniel A Sussman
Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first report of an individual having these two hereditary colorectal cancer syndromes. This discovery highlights the benefit of multigene testing over traditional stepwise genetic testing, particularly when a clinical presentation suggests more than one underlying genetic cause...
June 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28587529/colonoscopic-surveillance-a-cost-effective-method-to-prevent-hereditary-and-familial-colorectal-cancer
#10
Olle Sjöström, Lars Lindholm, Beatrice Melin
OBJECTIVE: Approximately 20-30% of all colorectal cancer (CRC) cases may have a familial contribution. The family history of CRC can be prominent (e.g., hereditary colorectal cancer (HCRC)) or more moderate (e.g., familial colorectal cancer (FCRC)). For family members at risk, colonoscopic surveillance is a well-established method to prevent both HCRC and FCRC, although the evidence for the exact procedures of the surveillance is limited. Surveillance can come at a high price if individuals are frequently examined, as this may result in unnecessary colonoscopies in relation to actual risk for CRC...
June 6, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28585041/clinical-impact-of-mismatch-repair-protein-testing-on-outcome-of-early-staged-colorectal-carcinomas
#11
Jatin Sundersham Gandhi, Malini Goswami, Anila Sharma, Parul Tanwar, Gurudutt Gupta, Nikhil Gupta, Sunil Pasricha, Anurag Mehta, Shivender Singh, Mohit Agarwal, Nitin Gupta
INTRODUCTION: Colorectal cancer is the third most common cancer in men and second most common in women globally. In the present study, we aimed to analyse the proportion of patients with loss of immunostaining for mismatch repair (MMR) proteins in all newly diagnosed stage II cases of colorectal cancer for the purpose of prognostication, for determination of further chemotherapeutic strategy and for familial screening. METHOD: From January 2014 to December 2015, 62 consecutive newly diagnosed cases of stage II colorectal cancer were included in the study...
June 5, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28573495/rnf43-is-mutated-less-frequently-in-lynch-syndrome-compared-with-sporadic-microsatellite-unstable-colorectal-cancers
#12
Lochlan J Fennell, Mark Clendenning, Diane M McKeone, Saara H Jamieson, Samanthy Balachandran, Jennifer Borowsky, John Liu, Futoshi Kawamata, Catherine E Bond, Christophe Rosty, Matthew E Burge, Daniel D Buchanan, Barbara A Leggett, Vicki L J Whitehall
The WNT signaling pathway is commonly altered during colorectal cancer development. The E3 ubiquitin ligase, RNF43, negatively regulates the WNT signal through increased ubiquitination and subsequent degradation of the Frizzled receptor. RNF43 has recently been reported to harbor frequent truncating frameshift mutations in sporadic microsatellite unstable (MSI) colorectal cancers. This study assesses the relative frequency of RNF43 mutations in hereditary colorectal cancers arising in the setting of Lynch syndrome...
June 1, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28556580/a-family-history-questionnaire-sent-to-patients-prior-to-colonoscopy-enhances-genetic-counseling-for-hereditary-colorectal-cancer
#13
Koen Kessels, Joey D Eisinger, Tom G Letteboer, G Johan A Offerhaus, Peter D Siersema, Leon M G Moons
AIM: We investigated whether sending a family history questionnaire (FHQ) to patients prior to undergoing colonoscopy results in an increase of an available family history and genetic counseling. METHODS: A FHQ was sent by mail to patients before undergoing outpatient colonoscopy at a university hospital in 2013. Additional characteristics and referral for genetic evaluation of patients undergoing colonoscopy in 2013 were retrieved from the electronic medical record (EMR)...
May 29, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28516436/the-growing-challenge-of-young-adults-with-colorectal-cancer
#14
REVIEW
Benjamin A Weinberg, John L Marshall, Mohamed E Salem
Although the incidence of colorectal cancer is declining in the overall US population, the rates of colorectal cancer are rising among adolescent and young adult (AYA) patients-defined as individuals under 45 years of age. This population includes patients deemed too young for routine colorectal cancer screening, which in the United States is typically initiated at age 50 for men and women at average risk. Clinicopathologic differences have long been observed between AYAs and older patients with colorectal cancer...
May 15, 2017: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/28515260/multigene-testing-for-hereditary-cancer-when-why-and-how
#15
Kenneth Offit
Multigene testing is a complicated area, with advantages and disadvantages of testing for hereditary cancer syndromes. Currently, NCCN does not endorse routing multiplex testing outside of a research setting, and/or intensive genetic counseling regarding risks and benefits. The 2017 NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian and Colorectal provide suggestions for mutation carriers identified by panel tests.
May 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28514183/multigene-panel-testing-provides-a-new-perspective-on-lynch-syndrome
#16
Carin R Espenschied, Holly LaDuca, Shuwei Li, Rachel McFarland, Chia-Ling Gau, Heather Hampel
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies...
May 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28501250/hereditary-colorectal-cancer-syndromes
#17
REVIEW
Katerina Wells, Paul E Wise
Awareness of hereditary colorectal cancer syndromes is important to facilitate their identification because affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies, and certain extracolonic malignancies depending on the syndrome. Identification of an affected individual allows for screening and early interventions for patients and their at-risk kindred. Genetic counseling and testing is important to the care of these patients. As knowledge of the genetic basis of these syndromes grows, unique genotype-phenotype profiles allow clinicians to tailor surveillance and treatment strategies based on individual risk...
June 2017: Surgical Clinics of North America
https://www.readbyqxmd.com/read/28492537/advantages-and-some-remaining-challenges-in-hereditary-gastrointestinal-cancer-panel-testing
#18
Tara Maga, Lara Balay, Barbara Jung
Colorectal cancer affects 1 in 20 men and women in their lifetime. About 30% of these cases have been shown to be familial while only about 5% are associated with a highly penetrant hereditary colon cancer syndrome. In many familial cases, however, no mutation in the commonly implicated CRC genes is found. With the development of next-generation sequencing, testing laboratories are now able to offer hereditary gastrointestinal panel testing, which allows for the simultaneous sequencing of a much broader set of genes associated with CRC...
May 11, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28481244/incomplete-segregation-of-msh6-frameshift-variants-with-phenotype-of-lynch-syndrome
#19
Raffaella Liccardo, Marina De Rosa, Giovanni Battista Rossi, Nicola Carlomagno, Paola Izzo, Francesca Duraturo
Abstract: Lynch syndrome (LS), the most frequent form of hereditary colorectal cancer, involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 subjects negative for mutations in MLH1 and MSH2. By direct sequencing, we identified 27 MSH6 variants, of which, nine were novel. To verify the pathogenicity of these novel variants, we performed in silico and segregation analyses. Three novel variants were predicted by in silico analysis as damaging mutations and segregated with the disease phenotype; while a novel frameshift deletion variant that was predicted to yield a premature stop codon did not segregate with the LS phenotype in three of four cases in the family...
May 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28476895/regression-of-apoptosis-resistant-colorectal-tumors-by-induction-of-necroptosis-in-mice
#20
Gui-Wei He, Claudia Günther, Veronika Thonn, Yu-Qiang Yu, Eva Martini, Barbara Buchen, Markus F Neurath, Michael Stürzl, Christoph Becker
Cancer cells often acquire capabilities to evade cell death induced by current chemotherapeutic treatment approaches. Caspase-8, a central initiator of death receptor-mediated apoptosis, for example, is frequently inactivated in human cancers via multiple mechanisms such as mutation. Here, we show an approach to overcome cell death resistance in caspase-8-deficient colorectal cancer (CRC) by induction of necroptosis. In both a hereditary and a xenograft mouse model of caspase-8-deficient CRC, second mitochondria-derived activator of caspase (SMAC) mimetic treatment induced massive cell death and led to regression of tumors...
June 5, 2017: Journal of Experimental Medicine
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