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https://www.readbyqxmd.com/read/28331556/the-genetic-basis-of-colonic-adenomatous-polyposis-syndromes
#1
REVIEW
Bente A Talseth-Palmer
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diagnosis of FAP might molecularly show a different diagnosis...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28314770/cribriform-morular-variant-of-papillary-thyroid-carcinoma-a-distinctive-type-of-thyroid-cancer
#2
REVIEW
Alfred King-Yin Lam, Nassim Saremi
The aim of this systematic review is to study the features of cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) by analysing the 129 documented cases in the English literature. The disease occurred almost exclusively in women. The median age of presentation for CMV-PTC was 24 years. Slightly over half of the patients with CMV-PTC had familial adenomatous polyposis (FAP). CMV-PTC presented before the colonic manifestations in approximately half of the patients with FAP. Patients with FAP often have multifocal tumours in the thyroid...
April 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28314254/synchronous-endometrial-and-ovarian-cancer-in-young-women-case-report-and-review-of-the-literature
#3
REVIEW
Askin Dogan, Beate Schultheis, Günther A Rezniczek, Ziad Hilal, Cem Cetin, Günther Häusler, Clemens B Tempfer
BACKGROUND: Young women with endometrial cancer (EC) have an increased risk of synchronous ovarian cancer. The prognosis of women with synchronous endometrial and ovarian cancer (SEOC) is good. A high proportion of affected women have hereditary non-polyposis colon cancer syndrome (HNPCC). CASE PRESENTATION: We present the case of a 45-year-old woman with histologically proven endometrioid adenocarcinoma of the endometrium (pT1B, G2, R0 without lymphovascular space invasion)...
March 2017: Anticancer Research
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/28282712/a-patient-with-desmoid-tumors-and-familial-fap-having-frame-shift-mutation-of-the-apc-gene
#5
Sanambar Sadighi, Mahsa Ghaffari-Moghaddam, Mojtaba Saffari, Mohammad Ali Mohagheghi, Reza Shirkoohi
Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (FAP) as an extra-colonic manifestation of the disease. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. Although mild or attenuated FAP may follow mutations in 5΄ extreme of the gene, it is more likely that 3΄ extreme mutations haveamore severe manifestation of thedisease. A 28-year-old woman was admitted to the Cancer Institute of Iran with an abdominal painful mass...
February 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28271232/gastric-tumours-in-fap
#6
Sarah-Jane Walton, Ian M Frayling, Susan K Clark, Andrew Latchford
Gastric cancer is not a recognised extra-colonic manifestation of FAP, except in countries with a high prevalence of gastric cancer. Data regarding gastric adenomas in FAP are sparse. The aim of this study was to review the clinical characteristics of gastric tumours occurring within an FAP population from the largest European polyposis registry. All patients that developed a gastric adenoma or carcinoma were identified from a prospectively maintained registry database. The primary outcome measure was the occurrence of gastric adenoma or adenocarcinoma...
March 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28271094/clinical-outcomes-of-gastric-polyps-and-neoplasms-in-patients-with-familial-adenomatous-polyposis
#7
Keiko Nakamura, Satoru Nonaka, Takeshi Nakajima, Tatsuo Yachida, Seiichiro Abe, Taku Sakamoto, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Takahisa Matsuda, Shigeki Sekine, Yukihide Kanemitsu, Hitoshi Katai, Yutaka Saito, Seiichi Hirota
Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP...
March 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28266097/dispelling-misconceptions-in-the-management-of-familial-adenomatous-polyposis
#8
REVIEW
Timothy J Chittleborough, Satish K Warrier, Alexander G Heriot, Matthew Kalady, James Church
Patients with familial adenomatous polyposis require surgical intervention at some point in their lives. The diagnosis is often apparent from their phenotype and family history, however, this is not always the case. Many factors can influence the surgical strategy although the polyposis burden and distribution remain the main consideration. While prophylactic removal of the rectum and colon is often required, sparing the rectum at the index surgery is safe in select patients. This article aims to dispel misconceptions in the diagnosis and treatment of patients with familial adenomatous polyposis...
March 7, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28248733/early-transcriptomic-changes-in-the-ileal-pouch-provide-insight-into-the-molecular-pathogenesis-of-pouchitis-and-ulcerative-colitis
#9
Yong Huang, Sushila Dalal, Dionysios Antonopoulos, Nathaniel Hubert, Laura H Raffals, Kyle Dolan, Christopher Weber, Jeannette S Messer, Bana Jabri, Albert Bendelac, A Murat Eren, David T Rubin, Mitch Sogin, Eugene B Chang
BACKGROUND: Ulcerative colitis (UC) only involves the colonic mucosa. Yet, nearly 50% of patients with UC who undergo total proctocolectomy with ileal pouch anal anastomosis develop UC-like inflammation of the ileal pouch (pouchitis). By contrast, patients with familial adenomatous polyposis (FAP) with ileal pouch anal anastomosis develop pouchitis far less frequently. We hypothesized that pathogenic events associated with the development of UC are recapitulated by colonic-metaplastic transcriptomic reprogramming of the UC pouch...
February 13, 2017: Inflammatory Bowel Diseases
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
#10
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/28221248/early-transcriptomic-changes-in-the-ileal-pouch-provide-insight-into-the-molecular-pathogenesis-of-pouchitis-and-ulcerative-colitis
#11
Yong Huang, Sushila Dalal, Dionysios Antonopoulos, Nathaniel Hubert, Laura H Raffals, Kyle Dolan, Christopher Weber, Jeannette S Messer, Bana Jabri, Albert Bendelac, A Murat Eren, David T Rubin, Mitch Sogin, Eugene B Chang
BACKGROUND: Ulcerative colitis (UC) only involves the colonic mucosa. Yet, nearly 50% of patients with UC who undergo total proctocolectomy with ileal pouch anal anastomosis develop UC-like inflammation of the ileal pouch (pouchitis). By contrast, patients with familial adenomatous polyposis (FAP) with ileal pouch anal anastomosis develop pouchitis far less frequently. We hypothesized that pathogenic events associated with the development of UC are recapitulated by colonic-metaplastic transcriptomic reprogramming of the UC pouch...
March 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28197371/prophylactic-vaccination-targeting-erbb3-decreases-polyp-burden-in-a-mouse-model-of-human-colorectal-cancer
#12
David J Bautz, Ang T Sherpa, David W Threadgill
Prophylactic vaccination is typically utilized for the prevention of communicable diseases such as measles and influenza but, with the exception of vaccines to prevent cervical cancer, is not widely used as a means of preventing or reducing the incidence of cancer. Here, we utilize a peptide-based immunotherapeutic approach targeting ERBB3, a pseudo-kinase member of the EGFR/ERBB family of receptor tyrosine kinases, as a means of preventing occurrence of colon polyps. Administration of the peptide resulted in a significant decrease in the development of intestinal polyps in C57BL/6J-Apc(Min) mice, a model of familial adenomatous polyposis (FAP)...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28184015/dual-pi3k-mtor-inhibition-in-colorectal-cancers-with-apc-and-pik3ca-mutations
#13
Tyler M Foley, Susan N Payne, Cheri A Pasch, Alex E Yueh, Dana R Van De Hey, Demetra P Korkos, Linda Clipson, Molly E Maher, Kristina A Matkowskyj, Michael A Newton, Dustin A Deming
Therapeutic targeting of the PI3K pathway is an active area of research in multiple cancer types, including breast and endometrial cancers. This pathway is commonly altered in cancer and plays an integral role in numerous vital cellular functions. Mutations in the PIK3CA gene, resulting in a constitutively active form of PI3K, often occur in colorectal cancer, though the population of patients who would benefit from targeting this pathway has yet to be identified. In human colorectal cancers, PIK3CA mutations most commonly occur concomitantly with loss of adenomatous polyposis coli (APC)...
February 9, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28148261/dclk1-a-tumor-stem-cell-marker-regulates-pro-survival-signaling-and-self-renewal-of-intestinal-tumor-cells
#14
Parthasarathy Chandrakesan, Jiannan Yao, Dongfeng Qu, Randal May, Nathaniel Weygant, Yang Ge, Naushad Ali, Sripathi M Sureban, Modhi Gude, Kenneth Vega, Eddie Bannerman-Menson, Lijun Xia, Michael Bronze, Guangyu An, Courtney W Houchen
BACKGROUND: More than 80% of intestinal neoplasia is associated with the adenomatous polyposis coli (APC) mutation. Doublecortin-like kinase 1 (Dclk1), a kinase protein, is overexpressed in colorectal cancer and specifically marks tumor stem cells (TSCs) that self-renew and increased the tumor progeny in Apc (Min/+) mice. However, the role of Dclk1 expression and its contribution to regulating pro-survival signaling for tumor progression in Apc mutant cancer is poorly understood. METHODS: We analyzed DCLK1 and pro-survival signaling gene expression datasets of 329 specimens from TCGA Colon Adenocarcinoma Cancer Data...
February 1, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28137882/e3-ubiquitin-ligase-mule-targets-%C3%AE-catenin-under-conditions-of-hyperactive-wnt-signaling
#15
Carmen Dominguez-Brauer, Rahima Khatun, Andrew J Elia, Kelsie L Thu, Parameswaran Ramachandran, Shakiba P Baniasadi, Zhenyue Hao, Lisa D Jones, Jillian Haight, Yi Sheng, Tak W Mak
Wnt signaling, named after the secreted proteins that bind to cell surface receptors to activate the pathway, plays critical roles both in embryonic development and the maintenance of homeostasis in many adult tissues. Two particularly important cellular programs orchestrated by Wnt signaling are proliferation and stem cell self-renewal. Constitutive activation of the Wnt pathway resulting from mutation or improper modulation of pathway components contributes to cancer development in various tissues. Colon cancers frequently bear inactivating mutations of the adenomatous polyposis coli (APC) gene, whose product is an important component of the destruction complex that regulates β-catenin levels...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28133351/-a-case-of-duodenal-papilla-cancer-22-years-after-total-proctocolectomy-for-familial-adenomatous-polyposis
#16
Takashi Takeda, Masakazu Miyake, Mamoru Uemura, Masataka Ikeda, Sakae Maeda, Kazuyoshi Yamamoto, Naoki Hama, Kazuhiro Nishikawa, Atsushi Miyamoto, Michihiko Miyazaki, Motohiro Hirao, Shoji Nakamori, Mitsugu Sekimoto
Familial adenomatous polyposis has an autosomal dominant pattern of inheritance. Colon cancer occurs frequently as a result of colorectal adenoma. The standard treatment is total proctocolectomy. However, it is reported that duodenal papilla cancer and desmoid tumors can also occur alongside colon cancer. We report a patient with duodenal papilla cancer who underwent total proctocolectomy 22 years previously. The patient was a 47-year-old man who had undergone a total proctocolectomy at the age of 25 years for familial adenomatous polyposis...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28130546/yap-il-6st-autoregulatory-loop-activated-on-apc-loss-controls-colonic-tumorigenesis
#17
Koji Taniguchi, Toshiro Moroishi, Petrus R de Jong, Michal Krawczyk, Britta Moyo Grebbin, Huiyan Luo, Rui-Hua Xu, Nicole Golob-Schwarzl, Caroline Schweiger, Kepeng Wang, Giuseppe Di Caro, Ying Feng, Eric R Fearon, Eyal Raz, Lukas Kenner, Henner F Farin, Kun-Liang Guan, Johannes Haybaeck, Christian Datz, Kang Zhang, Michael Karin
Loss of tumor suppressor adenomatous polyposis coli (APC) activates β-catenin to initiate colorectal tumorigenesis. However, β-catenin (CTNNB1) activating mutations rarely occur in human colorectal cancer (CRC). We found that APC loss also results in up-regulation of IL-6 signal transducer (IL-6ST/gp130), thereby activating Src family kinases (SFKs), YAP, and STAT3, which are simultaneously up-regulated in the majority of human CRC. Although, initial YAP activation, which stimulates IL6ST gene transcription, may be caused by reduced serine phosphorylation, sustained YAP activation depends on tyrosine phosphorylation by SFKs, whose inhibition, along with STAT3-activating JAK kinases, causes regression of established colorectal tumors...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#18
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (APC) contains 15 coding exons. The mutation spectrum of the APC gene is broad in that 87% of causative mutations are point mutations (including other sequence variants) and around 10% to 15% are intragenic deletions and duplications...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28063287/clinical-practice-guidelines-for-the-use-of-video-capsule%C3%A2-endoscopy
#19
Robert A Enns, Lawrence Hookey, David Armstrong, Charles N Bernstein, Steven J Heitman, Christopher Teshima, Grigorios I Leontiadis, Frances Tse, Daniel Sadowski
BACKGROUND & AIMS: Video capsule endoscopy (CE) provides a noninvasive option to assess the small intestine, but its use with respect to endoscopic procedures and cross-sectional imaging varies widely. The aim of this consensus was to provide guidance on the appropriate use of CE in clinical practice. METHODS: A systematic literature search identified studies on the use of CE in patients with Crohn's disease, celiac disease, gastrointestinal bleeding, and anemia...
January 4, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28057861/cellular-context-dependent-consequences-of-apc-mutations-on-gene-regulation-and-cellular-behavior
#20
Kyoichi Hashimoto, Yosuke Yamada, Katsunori Semi, Masaki Yagi, Akito Tanaka, Fumiaki Itakura, Hitomi Aoki, Takahiro Kunisada, Knut Woltjen, Hironori Haga, Yoshiharu Sakai, Takuya Yamamoto, Yasuhiro Yamada
The spectrum of genetic mutations differs among cancers in different organs, implying a cellular context-dependent effect for genetic aberrations. However, the extent to which the cellular context affects the consequences of oncogenic mutations remains to be fully elucidated. We reprogrammed colon tumor cells in an Apc(Min/+) (adenomatous polyposis coli) mouse model, in which the loss of the Apc gene plays a critical role in tumor development and subsequently, established reprogrammed tumor cells (RTCs) that exhibit pluripotent stem cell (PSC)-like signatures of gene expression...
January 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
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