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hereditary colorectal cancer

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https://www.readbyqxmd.com/read/28331559/tumor-suppressor-genes-in-familial-adenomatous-polyposis
#1
REVIEW
Nahal Eshghifar, Naser Farrokhi, Tahereh Naji, Mohammadreza Zali
Colorectal cancer (CRC) is mostly due to a series of genetic alterations that are being greatly under the influence of the environmental factors. These changes, mutational or epigenetic modifications at transcriptional forefront and/or post-transcriptional effects via miRNAs, include inactivation and the conversion of proto-oncogene to oncogenes, and/or inactivation of tumor suppressor genes (TSG). Here, a thorough review was carried out on the role of TSGs with the focus on the APC as the master regulator, mutated genes and mal-/dysfunctional pathways that lead to one type of hereditary form of the CRC; namely familial adenomatous polyposis (FAP)...
2017: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/28314294/mismatch-repair-protein-deficiency-is-a-risk-factor-for-aberrant-expression-of-hla-class-i-molecules-a-putative-adaptive-immune-escape-phenomenon
#2
Terufumi Kubo, Yoshihiko Hirohashi, Kazuhiko Matsuo, Tomoko Sonoda, Hiroki Sakamoto, Kiyoshi Furumura, Tomohide Tsukahara, Takayuki Kanaseki, Munehide Nakatsugawa, Hiroshi Hirano, Tomohisa Furuhata, Ichiro Takemasa, Tadashi Hasegawa, Toshihiko Torigoe
Accumulating evidence indicates that immune checkpoint inhibition-mediated cancer immunotherapies greatly improve the prognosis of certain types of cancer. This approach is now becoming a standard therapy, joining surgery, radiotherapy, and chemotherapy. Because the costs of antibody drugs are now a socioeconomic burden in many countries, an urgent need in cancer immunotherapy is the identification of relevant biomarkers that can predict therapy efficacy. Recent studies have reported that colorectal adenocarcinoma with hereditary or sporadic deficiency in mismatch repair (MMR) proteins has high antigenicity and that detection of these proteins could be a promising way to estimate clinical response...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28306219/characterization-of-a-novel-pold1-missense-founder-mutation-in-a-spanish-population
#3
Rosario Ferrer-Avargues, Virginia Díez-Obrero, Ester Martín-Tomás, Eva Hernández-Illán, María-Isabel Castillejo, Alan Codoñer-Alejos, Víctor-Manuel Barberá, Ana-Beatriz Sánchez-Heras, Ángel Segura, María-José Juan, Isabel Tena, Adela Castillejo, José-Luis Soto
BACKGROUND: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain). METHODS: Clinical and molecular data were collected from 4 independent families known to have a POLD1 Leu474Pro mutation. To establish its founder effect, haplotype construction was performed using 14 flanking POLD1 polymorphic markers...
March 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28283864/lower-gastrointestinal-neuroendocrine-neoplasms-associated-with-hereditary-cancer-syndromes-a-case-series
#4
Trilokesh D Kidambi, Christina Pedley, Amie Blanco, Emily K Bergsland, Jonathan P Terdiman
Lower gastrointestinal (GI) neuroendocrine neoplasms (NENs) of the colon and rectum are uncommon and not traditionally associated with hereditary GI cancer syndromes. However, with widespread implementation of colorectal cancer screening programs, lower GI NENs are being identified with increasing frequency. We report the first case series of six patients with lower GI NENs who were diagnosed with hereditary GI cancer syndromes by germline testing. Two patients presented with poorly differentiated rectal neuroendocrine carcinoma (NECs) with colonic polyposis and were found to have Familial Adenomatous Polyposis and MYH-Associated Polyposis, respectively...
March 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28264871/immune-microenvironment-in-microsatellite-instable-endometrial-cancers-hereditary-or-sporadic-origin-matters
#5
Janelle B Pakish, Qian Zhang, Zhongyuan Chen, Han Liang, Gary Chisholm, Ying Yuan, Samuel C Mok, Russell J Broaddus, Karen Lu, Melinda S Yates
PURPOSE: Recent studies show that colorectal tumors with high microsatellite instability (MSI-H) have increased immunogenicity and response to immunotherapy compared to microsatellite stable (MSS) tumors. It is not yet clear if MSI-H endometrial cancer (EC) may also benefit from these therapies. It is also unknown whether immune response is equivalent in MSI-H EC with sporadic or inherited Lynch syndrome origins. EXPERIMENTAL DESIGN: Multiplexed fluorescent immunohistochemistry (IHC) was used to compare matched MSI-H (n=60) and MSS (n=96) EC specimens by evaluating immune cell populations in tumor and stroma compartments...
March 6, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28260708/adenomatous-polyposis-a-note-of-the-new-guidelines-of-clinical-practice-for-the-hereditary-colorectal-cancer-and-its-actual-practice
#6
Takeshi Nakajima, Hideki Ishikawa, Yutaka Saito
No abstract text is available yet for this article.
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/28251689/germline-mutations-in-patients-with-multiple-colorectal-polyps-in-china
#7
Chen-Guang Li, Peng Jin, Lang Yang, Wan-Chun Zang, Qian Kang, Na Li, Yuqi He, Junfeng Xu, Chen Zhang, Xin Wang, Jian-Qiu Sheng
BACKGROUND AND AIM: Multiple colorectal polyps are relevant in hereditary colorectal cancer (CRC) syndromes, which are thought to be caused by multiple events including germline mutations. This study was aimed to characterize germline mutations in Chinese patients with multiple colorectal polyps. METHODS: Patients with >10 colorectal polyps at the Department of Gastroenterology of the PLA Army General Hospital were enrolled from January 2014 to December 2015...
March 2, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28250766/novel-implications-in-molecular-diagnosis-of-lynch-syndrome
#8
REVIEW
Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28246467/familial-pancreatic-cancer-concept-management-and-issues
#9
REVIEW
Hiroyuki Matsubayashi, Kyoichi Takaori, Chigusa Morizane, Hiroyuki Maguchi, Masamichi Mizuma, Hideaki Takahashi, Keita Wada, Hiroko Hosoi, Shinichi Yachida, Masami Suzuki, Risa Usui, Toru Furukawa, Junji Furuse, Takamitsu Sato, Makoto Ueno, Yoshimi Kiyozumi, Susumu Hijioka, Nobumasa Mizuno, Takeshi Terashima, Masaki Mizumoto, Yuzo Kodama, Masako Torishima, Takahisa Kawaguchi, Reiko Ashida, Masayuki Kitano, Keiji Hanada, Masayuki Furukawa, Ken Kawabe, Yoshiyuki Majima, Toru Shimosegawa
Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion (< 20%) and the familial aggregation is usually modest...
February 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28243543/development-and-validation-of-a-36-gene-sequencing-assay-for-hereditary-cancer-risk-assessment
#10
Valentina S Vysotskaia, Gregory J Hogan, Genevieve M Gould, Xin Wang, Alex D Robertson, Kevin R Haas, Mark R Theilmann, Lindsay Spurka, Peter V Grauman, Henry H Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S Chu, Kevin Iori, Jared R Maguire, Kaylene Ready, Eric A Evans, Hyunseok P Kang, Imran S Haque
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can lead to reductions in morbidity and mortality through targeted risk management options. Additionally, advances in gene sequencing technology now permit the development of multigene hereditary cancer testing panels. Here, we describe the 2016 revision of the Counsyl Inherited Cancer Screen for detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy number variants (CNVs) in 36 genes associated with an elevated risk for breast, ovarian, colorectal, gastric, endometrial, pancreatic, thyroid, prostate, melanoma, and neuroendocrine cancers...
2017: PeerJ
https://www.readbyqxmd.com/read/28242209/features-of-patients-with-hereditary-mixed-polyposis-syndrome-caused-by-duplication-of-grem1-and-implications-for-screening-and-surveillance
#11
S Lieberman, T Walsh, M Schechter, T Adar, E Goldin, R Beeri, N Sharon, H Baris, L Ben Avi, E Half, I Lerer, B H Shirts, C C Pritchard, I Tomlinson, M C King, E Levy-Lahad, T Peretz, Y Goldberg
Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a non-coding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with GREM1 duplications have been described, so there are many questions about detection and management. We report 4 extended families with the duplication near GREM1 previously found in Ashkenazi Jews; 3 families were identified at cancer genetic clinics in Israel and 1 family was identified in a cohort of patients with familial colorectal cancer...
February 24, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28224029/designing-clinical-and-genetic-guidelines-of-colorectal-cancer-screening-as-an-effective-roadmap-for-risk-management
#12
Mohammad Reza Zali, Reza Safdari, Elham Maserat, Hamid Asadzadeh Aghdaei
AIM: We aimed to present clinical and genetic guidelines of colorectal cancer screening for risk assessment of populations at risk. BACKGROUND: National guidelines can be used as a guide for choosing the method of screening for each individual. These guidelines facilitate decision making and support the delivery of cancer screening service. METHODS: In the first step, a comparative study was performed by using secondary data extracted from the literature review...
December 2016: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/28210747/extent-of-field-change-in-colorectal-cancers-with-braf-mutation
#13
Aaron Poh, Heidi Sian Ying Chang, Kok Yang Tan, Xin Xiu Sam, Avery Khoo, Shoa Nian Choo, Min En Nga, Wei Keat Wan
INTRODUCTION: Sporadic colorectal cancers with BRAF mutations constitute two distinct subgroups of colorectal cancers. Recent studies have linked the presence of the BRAF mutation to a familial inheritance pattern. This was a proof-of-concept study that aimed to examine: (a) the extent of field change in sporadic colorectal cancers with BRAF mutation; and (b) the extent of resection margins required and the pattern of DNA mismatch repair protein loss in these tumours. METHODS: Eight microsatellite instability-high (MSI-H) tumours with positive BRAF mutation from an existing histopathological database were selected for BRAF mutation and mismatch repair protein analysis...
February 17, 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28197815/choosing-not-to-undergo-predictive-genetic-testing-for-hereditary-colorectal-cancer-syndromes-expanding-our-understanding-of-decliners-and-declining
#14
Louise A Keogh, Heather Niven, Alison Rutstein, Louisa Flander, Clara Gaff, Mark Jenkins
While medical research continues to investigate the genetic basis of cancer, and personalised prevention gains momentum, little research has been conducted with the individuals who decline predictive genetic testing for cancer. We recruited individuals who had been offered genetic testing for Lynch syndrome or bi-allelic MUTYH mutations due to their participation in a large, population-based, Australia-wide colorectal cancer study. Thirty-three individuals in mutation-carrying families, unaffected by cancer, who had actively or passively declined testing at one of four decision-making points, took part in a qualitative interview about their decision...
February 14, 2017: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/28188963/high-risk-epithelial-ovarian-cancer-patients-for-hereditary-ovarian-cancer
#15
Seksit Chirasophon, Tarinee Manchana, Chinachote Teerapakpinyo
AIM: Risk assessment to identify patients at risk for hereditary ovarian cancer is important. The objectives of this study were to evaluate the frequency of high-risk epithelial ovarian cancer (EOC) patients and the frequency of germline mutation in these patients. METHODS: A total of 335 patients with histologically confirmed non-mucinous EOC were included. High-risk patients were defined as patients who had: (i) significant family history of breast/ovarian/colorectal/endometrial cancers; (ii) synchronous breast/endometrial/colorectal cancer; or (iii) high-grade serous carcinoma...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28176204/universal-screening-for-lynch-syndrome-among-patients-with-colorectal-cancer-patient-perspectives-on-screening-and-sharing-results-with-at-risk-relatives
#16
Jessica Ezzell Hunter, Kathleen A Arnold, Jennifer E Cook, Jamilyn Zepp, Marian J Gilmore, Alan F Rope, James V Davis, Kellene M Bergen, Elizabeth Esterberg, Kristin R Muessig, Susan K Peterson, Sapna Syngal, Louise Acheson, Georgia Wiesner, Jacob Reiss, Katrina A B Goddard
Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC) could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated cancers. Given universal screening includes all patients, irrespective of high risk factors such early age at onset or family history of CRC, it is important to understand perspectives of all patients and not just those at high risk. As part of a study to assess the feasibility and implementation of universal screening, 189 patients newly diagnosed with CRC were surveyed about their interest in screening for LS and communication of results with at-risk family members...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28174125/family-history-in-colonoscopy-patients-feasibility-and-performance-of-electronic-and-paper-based-surveys-for-colorectal-cancer-risk-assessment-in-the-outpatient-setting
#17
Tannaz Guivatchian, Erika S Koeppe, Jason R Baker, Cristina Moisa, Matthew Demerath, Caitlin Foor-Pessin, William D Chey, Shanti L Eswaran, Joseph C Kolars, Stacy B Menees, Michael Rajala, Michael D Rice, Rafat Rizk, Joel H Rubenstein, Pratima Sharma, Andrea Todisco, Elena M Stoffel
BACKGROUND AND AIMS: Family history is crucial in stratifying patients' risk for colorectal cancer (CRC). Previous risk assessment tools developed for use in clinic or endoscopy settings have demonstrated suboptimal specificity for identifying patients with hereditary cancer syndromes. Our aim was to test the feasibility and performance of 2 family history surveys (paper and electronic) in individuals presenting for outpatient colonoscopy. METHODS: Patients presenting for outpatient colonoscopy at a tertiary care center were asked to complete a 5 question paper risk assessment survey (short paper survey) either alone or in conjunction with a second, comprehensive electronic family risk assessment survey (comprehensive tablet survey)...
February 4, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28141798/oxidative-dna-damage-induces-hypomethylation-in-a-compromised-base-excision-repair-colorectal-tumourigenesis
#18
Daniela Furlan, Davide Trapani, Enrico Berrino, Carla Debernardi, Mara Panero, Laura Libera, Nora Sahnane, Cristina Riva, Maria Grazia Tibiletti, Fausto Sessa, Anna Sapino, Tiziana Venesio
BACKGROUND: A compromised base excision repair (BER) promotes carcinogenesis by accumulating oxidative DNA-damaged products as observed in MUTYH-associated polyposis, a hereditary colorectal cancer syndrome marked by adenomas and cancers with an accumulation of 8-oxoguanine. Remarkably, DNA global demethylation has been shown to be mediated by BER, suggesting a relevant interplay with early colorectal tumourigenesis. To check this hypothesis, we investigated a cohort of 49 adenomas and 10 carcinomas, derived from 17 MUTYH-associated polyposis patients; as adenoma controls, we used a set of 36 familial adenomatous polyposis and 24 sporadic polyps...
March 14, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28135145/cancer-susceptibility-gene-mutations-in-individuals-with-colorectal-cancer
#19
Matthew B Yurgelun, Matthew H Kulke, Charles S Fuchs, Brian A Allen, Hajime Uno, Jason L Hornick, Chinedu I Ukaegbu, Lauren K Brais, Philip G McNamara, Robert J Mayer, Deborah Schrag, Jeffrey A Meyerhardt, Kimmie Ng, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup, Sapna Syngal
Purpose Hereditary factors play an important role in colorectal cancer (CRC) risk, yet the prevalence of germline cancer susceptibility gene mutations in patients with CRC unselected for high-risk features (eg, early age at diagnosis, personal/family history of cancer or polyps, tumor microsatellite instability [MSI], mismatch repair [MMR] deficiency) is unknown. Patients and Methods We recruited 1,058 participants who received CRC care in a clinic-based setting without preselection for age at diagnosis, personal/family history, or MSI/MMR results...
January 30, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28127413/hereditary-cancer-syndromes-in-latino-populations-genetic-characterization-and-surveillance-guidelines
#20
REVIEW
Marcia Cruz-Correa, Julyann Pérez-Mayoral, Julie Dutil, Miguel Echenique, Rafael Mosquera, Keila Rivera-Román, Sharee Umpierre, Segundo Rodriguez-Quilichini, Maria Gonzalez-Pons, Myrta I Olivera, Sherly Pardo
Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers...
2017: Hereditary Cancer in Clinical Practice
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