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Hereditary colon cancer

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https://www.readbyqxmd.com/read/29237405/prevalence-and-characteristics-of-hereditary-non-polyposis-colorectal-cancer-hnpcc-syndrome-in-immigrant-asian-colorectal-cancer-patients
#1
Jasmine Lee, Yin-Yi Xiao, Yan Yu Sun, Jasminka Balderacchi, Bradley Clark, Jatin Desani, Vivek Kumar, Angela Saverimuthu, Khin Than Win, Yiwu Huang, Yiqing Xu
BACKGROUND: The prevalence of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is 2 to 5% in the Caucasian population. HNPCC is caused by genomic mutations in DNA mismatch repair genes (MMR), namely MLH1, MSH2, MSH6, PMS2, and EPCAM. A non-hereditary, acquired process of hypermethylation of the MLH1 promoter can also lead to silencing of MLH1 protein expression. Diagnosis of HNPCC in patients with colorectal and other related cancers is important in the clinical treatment and surveillance of related cancers...
December 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29203393/pyrin-inflammasome-regulates-tight-junction-integrity-to-restrict-colitis-and-tumorigenesis
#2
Deepika Sharma, Ankit Malik, Clifford S Guy, Rajendra Karki, Peter Vogel, Thirumala-Devi Kanneganti
BACKGROUND & AIMS: Inflammatory bowel diseases (IBD) increase risk for colorectal cancer. Mutations in the Mediterranean fever gene (MEFV or pyrin) are associated with hereditary autoinflammatory disease and severe IBD. Expression of MEFV, a sensor protein that the initiates assembly of the inflammasome complex, is increased in colon biopsies from patients with IBD. We investigated the role of pyrin in intestinal homeostasis in mice. METHODS: Mefv-/- mice and C57/BL6 mice (controls) were given azoxymethane followed by multiple rounds of dextran sodium sulfate (DSS) to induce colitis and tumorigenesis...
December 1, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29174953/signature-celebration-of-gastroenterology-colorectal-cancer
#3
Andrew T Chan, Paul Moayyedi
Gastroenterology has published many seminal articles that have transformed our understanding of colorectal cancer (CRC) as well as being influential in promoting colorectal cancer screening which has saved many people from developing the disease. CRC has a hereditary component most notably highlighted in Lynch syndrome. A key paper reported that the majority of mutations in patients with hereditary nonpolyposis colorectal cancer harbored mutations in the MLH1 or MSH2 mismatch repair proteins. Continuing on the gene mutation theme, another paper...
November 23, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29133258/when-should-patients-undergo-genetic-testing-for-hereditary-colon-cancer-syndromes
#4
Gregory Idos, Samir Gupta
No abstract text is available yet for this article.
November 10, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29096939/familial-colorectal-cancer-type-x-fcctx-and-the-correlation-with-various-genes-a-systematic-review
#5
REVIEW
Mahdieh Nejadtaghi, Hamideh Jafari, Effat Farrokhi, Keihan Ghatreh Samani
Familial Colorectal Cancer Type X (FCCTX) is a type of hereditary nonpolyposis colorectal cancer in accordance to Amsterdam criteria-1 for Lynch syndrome, with no related mutation in mismatch repair gene. FCCTX is microsatellite stable and is accounted for 40% of families with Amsterdam criteria-1 with a high age of onset. Thus, the carcinogenesis of FCCTX is different compared to Lynch syndrome. In addition to the microsatellite stability and the presence of less predominant tumors in proximal colon, various clinical features have also been associated with FCCTX in comparison with Lynch syndrome such as no increased risk of extra-colonic cancers, older age of diagnosis and higher adenoma/carcinoma rate...
October 18, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/29049220/the-association-between-ccnd1-g870a-polymorphism-and-colorectal-cancer-risk-a-meta-analysis
#6
REVIEW
Mei Xie, Fen Zhao, Xiaoling Zou, Shuai Jin, Shaoquan Xiong
BACKGROUND: CyclinD1 (CCND1) is a key cell cycle regulatory protein. A large number of epidemiological studies have assessed the potential correlation between the CCND1 G870A polymorphism and the risk of colorectal cancer (CRC), but their findings have been inconsistent. To obtain a more precise understanding of the association between the G870A polymorphism in the CCND1 gene and the CRC risk, we conducted a more comprehensive meta-analysis. METHODOLOGY: We searched PubMed, Ovid, Springer, Weipu, China National Knowledge Infrastructure (CNKI), and Wanfang databases, covering all publications (the last search was updated on January 10, 2017)...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28955708/a-systematic-review-on-the-existing-screening-pathways-for-lynch-syndrome-identification
#7
Alessia Tognetto, Maria Benedetta Michelazzo, Giovanna Elisa Calabró, Brigid Unim, Marco Di Marco, Walter Ricciardi, Roberta Pastorino, Stefania Boccia
BACKGROUND: Lynch syndrome (LS) is the most common hereditary colon cancer syndrome, accounting for 3-5% of colorectal cancer (CRC) cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for LS...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28926134/early-genetic-aberrations-in-patients-with-sporadic-colorectal-cancer
#8
Brooke R Druliner, Xiaoyang Ruan, Hugues Sicotte, Daniel O'Brien, Hongfang Liu, Jean-Pierre A Kocher, Lisa Boardman
Chromosome instability (CIN) is widely observed in both sporadic and hereditary colorectal cancer (CRC). Defects in APC and WNT signaling are primarily associated with CIN in hereditary CRC, but the genetic causes for CIN in sporadic CRC remain elusive. Using high-density SNP array and exome data from The Cancer Genome Atlas, we characterized loss of heterozygosity (LOH) and copy number variation (CNV) in the peripheral blood, normal colon and corresponding tumor tissue in 15 CRC patients with proficient mismatch repair (MMR) and 24 CRC patients with deficient MMR...
September 19, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28865167/colorectal-surveillance-after-segmental-resection-for-young-onset-colorectal-cancer-is-there-evidence-for-extended-resection
#9
V N Kozak, M F Kalady, M M Gamaleldin, J Liang, J M Church
AIM: Although sporadic colorectal cancer (CRC) usually occurs in patients over 50, recent evidence suggests that the incidence is increasing in younger patients. Such patients are theoretically at high risk of metachronous neoplasia and may be candidates for extended, prophylactic, colectomy. This study aimed to define the risk of metachronous cancer/adenomas during follow-up of younger patients who underwent segmental colectomy for CRC. METHOD: A CRC database was used to identify patients aged less than 50 who underwent surgery for CRC between 1994 and 2010...
September 2, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28832487/committee-opinion-no-716-the-role-of-the-obstetrician-gynecologist-in-the-early-detection-of-epithelial-ovarian-cancer-in-women-at-average-risk
#10
(no author information available yet)
Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovarian cancer syndrome (BRCA mutation) or hereditary nonpolyposis colorectal cancer (Lynch syndrome), and these women are at increased risk of developing ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28832478/committee-opinion-no-716-summary-the-role-of-the-obstetrician-gynecologist-in-the-early-detection-of-epithelial-ovarian-cancer-in-women-at-average-risk
#11
(no author information available yet)
Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovarian cancer syndrome (BRCA mutation) or hereditary nonpolyposis colorectal cancer (Lynch syndrome), and these women are at increased risk of developing ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28819720/immunohistochemical-null-phenotype-for-mismatch-repair-proteins-in-colonic-carcinoma-associated-with-concurrent-mlh1-hypermethylation-and-msh2-somatic-mutations
#12
Tao Wang, Zsofia K Stadler, Liying Zhang, Martin R Weiser, Olca Basturk, Jaclyn F Hechtman, Efsevia Vakiani, Lenard B Saltz, David S Klimstra, Jinru Shia
Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficiency in solid tumors. The IHC test, however, can show varied staining patterns, posing challenges in the interpretation of the staining results in some cases. Here we report a case of an 80-year-old female with a colonic adenocarcinoma that exhibited an unusual "null" IHC staining pattern with complete loss of all four MMR proteins (MLH1, MSH2, MSH6, and PMS2)...
August 17, 2017: Familial Cancer
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
#13
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/28587064/prostaglandin-e2-induced-cox-2-expressions-via-ep2-and-ep4-signaling-pathways-in-human-lovo-colon-cancer-cells
#14
Hsi-Hsien Hsu, Yueh-Min Lin, Chia-Yao Shen, Marthandam Asokan Shibu, Shin-Yi Li, Sheng-Huang Chang, Chien-Chung Lin, Ray-Jade Chen, Vijaya Padma Viswanadha, Hui-Nung Shih, Chih-Yang Huang
Metastasis is the most dangerous risk faced by patients with hereditary non-polyposis colon cancer (HNPCC). The expression of matrix metalloproteinases (MMPs) has been observed in several types of human cancers and regulates the efficacy of many therapies. Here, we show that treatment with various concentrations of prostaglandin E2 (PGE2; 0, 1, 5 or 10 μM) promotes the migration ability of the human LoVo colon cancer cell line. As demonstrated by mRNA and protein expression analyses, EP2 and EP4 are the major PGE2 receptors expressed on the LoVo cell membrane...
May 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28585041/clinical-impact-of-mismatch-repair-protein-testing-on-outcome-of-early-staged-colorectal-carcinomas
#15
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/28492537/advantages-and-some-remaining-challenges-in-hereditary-gastrointestinal-cancer-panel-testing
#16
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/28486497/towards-decision-making-using-individualized-risk-estimates-for-personalized-medicine-a-systematic-review-of-genomic-classifiers-of-solid-tumors
#17
REVIEW
Daniel M Trifiletti, Vanessa N Sturz, Timothy N Showalter, Jennifer M Lobo
Recent advances in the understanding of the genetic underpinnings of cancer offer the promise to customize cancer treatments to the individual through the use of genomic classifiers (GCs). At present, routine clinical utilization of GCs is uncommon and their current scope and status, in a broad sense, are unknown. As part of a registered review (PROSPERO 2014:CRD42014013371), we systematically reviewed the literature evaluating the utility of commercially available GCs by searching Ovid Medline (PubMed), EMBASE, the Cochrane Database of Systematic Reviews, and CINAHL on September 2, 2014...
2017: PloS One
https://www.readbyqxmd.com/read/28473040/individualized-medicine-in-gastroenterology-and-hepatology
#18
REVIEW
Michael C Stephens, Lisa A Boardman, Konstantinos N Lazaridis
After the completion of the Human Genome Project, there has been an acceleration in methodologies on sequencing nucleic acids (DNA and RNA) at a high precision and with ever-decreasing turnaround time and cost. Collectively, these approaches are termed next-generation sequencing and are already affecting the transformation of medical practice. In this symposium article, we highlight the current knowledge of the genetics of selected gastrointestinal tract and liver diseases, namely, inflammatory bowel disease, hereditary cholestatic liver disease, and familial colon cancer syndromes...
May 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28471193/-molecular-pathology-of-colorectal-cancer-microsatellite-instability-the-detection-the-relationship-to-the-pathophysiology-and-prognosis
#19
V Brychtová, R Šefr, R Hrstka, P Vídeňská, B Bencsiková, B Hanáková, L Zdražilová Dubská, R Nenutil, E Budinská
BACKGROUND: Colorectal carcinoma (CRC) is third most common cancer worldwide with very heterogenous character. In most cases, it is caused by sporadic events leading to disruption of epithelial cells of the colon. The minority evolves from germline mutations associated with hereditary cancer syndromes. Mechanisms leading to mutations of oncogenes, tumour suppressors and genes of DNA repair mechanisms include: 1. chromosomal instability, 2. microsatellite instability and 3. CpG island methylator phenotype...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28460341/a-rare-case-of-choroid-plexus-carcinoma-that-led-to-the-diagnosis-of-lynch-syndrome-hereditary-nonpolyposis-colorectal-cancer
#20
Viola W Zhu, Sanjay Hinduja, Stevan R Knezevich, William R Silveira, Celia D DeLozier
Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome. Brian tumors are infrequent, but have been reported in series. Here, we report a case of a 34-year-old Caucasian woman with WHO grade III choroid plexus carcinoma (CPC). Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53...
July 2017: Clinical Neurology and Neurosurgery
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