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Family adenomatous polyposis

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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/28331556/the-genetic-basis-of-colonic-adenomatous-polyposis-syndromes
#2
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/28317691/duodenal-adenomas-in-sporadic-and-familial-adenomatous-polyposis-patients-birds-of-a-feather
#3
EDITORIAL
Priyanka Kanth, N Jewel Samadder, James DiSario
No abstract text is available yet for this article.
April 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28314770/cribriform-morular-variant-of-papillary-thyroid-carcinoma-a-distinctive-type-of-thyroid-cancer
#4
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/28306719/chromosome-19q13-disruption-alters-expressions-of-cyp2a7-mia-and-mia-rab4b-lncrna-and-contributes-to-fap-like-phenotype-in-apc-mutation-negative-familial-colorectal-cancer-patients
#5
Lai Fun Thean, Yu Hui Wong, Michelle Lo, Carol Loi, Min Hoe Chew, Choong Leong Tang, Peh Yean Cheah
Familial adenomatous polyposis (FAP) is an autosomal-dominantly inherited form of colorectal cancer (CRC) caused by mutation in the adenomatous polyposis coli (APC) gene. Our ability to exhaustively screen for APC mutations identify microsatellite-stable and APC-mutation negative familial CRC patients, enabling us to search for novel genes. We performed genome-wide scan on two affected siblings of one family and 88 ethnicity- and gender-matched healthy controls to identify deletions shared by the siblings. Combined loss of heterozygosity, copy number and allelic-specific copy number analysis uncovered 5 shared deletions...
2017: PloS One
https://www.readbyqxmd.com/read/28296825/frequency-and-risk-factors-of-clostridium-difficile-infection-in-hospitalized-patients-with-pouchitis-a-population-based-study
#6
Gaurav Kistangari, Rocio Lopez, Bo Shen
BACKGROUND: Clostridium difficile infection (CDI) in patients with the ileal pouch after proctocolectomy has been increasingly recognized. We sought to evaluate the frequency and risk factors of CDI in patients with the primary or secondary discharge diagnosis of pouchitis in the United States. METHODS: We reviewed the National Inpatient Sample of the Healthcare Cost and Utilization Project and identified patients admitted for pouchitis with underlying inflammatory bowel disease (IBD) or familial adenomatous polyposis (FAP), between 2010 and 2012...
April 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28285810/-gastric-adenoma-of-pyloric-type-associated-with-familial-adenomatous-polyposis-a-rare-histological-type-not-to-be-overlooked
#7
Jérôme Didier, Peggy Dartigues, Ranya Soufan, David Malka, Pascal Burtin, Jean-Yves Scoazec
We report here two cases of gastric adenomas of pyloric type diagnosed during the follow-up of familial adenomatous polyposis (FAP). This rare histological lesion has been only recently described in this particular context and its clinical and pathological spectrum remains to be evaluated. Our two cases were very different in their clinical and endoscopic presentation. In the first patient, the lesion was diagnosed late during the evolution of FAP; it was very large and protruded above the adjacent mucosa; because of its large size, its treatment proved to be difficult...
March 9, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28283864/lower-gastrointestinal-neuroendocrine-neoplasms-associated-with-hereditary-cancer-syndromes-a-case-series
#8
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
#9
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/28271094/clinical-outcomes-of-gastric-polyps-and-neoplasms-in-patients-with-familial-adenomatous-polyposis
#10
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
#11
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/28258930/the-impact-of-hospitalization-on-the-performance-of-capsule-endoscopy-ce
#12
Heinz Albrecht, Marcel Vetter, Wolfgang Dauth, Flavius Zoicas, Markus Friedrich Neurath, Alexander Fritzkarl Hagel
BACKGROUND: For proper evaluation of capsule endoscopy (CE), a complete examination is necessary. AIM: We evaluated risk factors of an incomplete CE with focus on patient hospitalization. METHODS: We retrospectively evaluated 161 consecutive patients who underwent CE between 01.07.2013 and 13.03.2016. Main indications were active bleeding, iron deficiency anemia (IDA), inflammatory bowel disease (IBD), abdominal pain, and familial adenomatous polyposis (FAP)...
February 20, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28253712/novel-strategies-for-comprehensive-mutation-screening-of-the-apc-gene
#13
L Wachsmannova, M Mego, V Stevurkova, V Zajac, S Ciernikova
Colorectal cancer is the 4th most common cause of cancer related deaths worldwide and new possibilities in accurate diagnosis and targeted treatment are highly required. Mutations in adenomatous polyposis coli (APC) gene play a pivotal role in adenoma-carcinoma pathway of colorectal tumorigenesis. The quarter century from its´ first cloning, APC became one of the most frequently mutated, known driver genes in colorectal cancer. Intensive routine molecular testing of APC has brought the benefits for patients with family history of polyposis or colorectal cancer...
March 3, 2017: Neoplasma
https://www.readbyqxmd.com/read/28252348/an-unusual-haemorrhagic-complication-of-an-anastomotic-leak-and-a-novel-method-of-controlling-the-haemorrhage
#14
S Martin, A Armstrong
Introduction Restorative proctocolectomy (RP) is undertaken for patients with familial adenomatous polyposis (FAP) and ulcerative colitis, but is associated with a risk of anastomotic leak. Case history A 20-year-old male with a family history of FAP had a RP with a double-stapled J-pouch and covering loop ileostomy. At ileostomy reversal 21 months later, he presented with significant anal bleeding. He proceeded to theatre for endoscopy. Pouchoscopy showed a pouch full of blood and a foreign object trapped in a diverticulum...
March 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28251376/the-treatment-of-desmoid-tumors-associated-with-familial-adenomatous-polyposis-the-results-of-a-japanese-multicenter-observational-study
#15
Yasuhiro Inoue, Hideyuki Ishida, Hideki Ueno, Hirotoshi Kobayashi, Tatsuro Yamaguchi, Tsuyoshi Konishi, Naohiro Tomita, Nagahide Matsubara, Fumio Ishida, Takao Hinoi, Yukihide Kanemitsu, Toshiaki Watanabe, Kenichi Sugihara
PURPOSE: Familial adenomatous polyposis (FAP)-associated desmoid tumor (DT) is sometimes life threatening. However, the optimal treatment for DTs has not been established. The aim of this study was to analyze the outcomes of surgical and pharmacological treatments for DT in Japanese FAP patients. METHODS: We retrospectively reviewed the data of 303 patients who underwent colectomy for FAP between 2000 and 2012. We analyzed 41 patients with DTs in which the location was apparent...
March 1, 2017: Surgery Today
https://www.readbyqxmd.com/read/28250766/novel-implications-in-molecular-diagnosis-of-lynch-syndrome
#16
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/28248733/early-transcriptomic-changes-in-the-ileal-pouch-provide-insight-into-the-molecular-pathogenesis-of-pouchitis-and-ulcerative-colitis
#17
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/28247059/a-mucinous-cystadenoma-in-rectal-cuff-of-a-patient-with-familial-adenomatous-polyposis
#18
Seyed Reza Fatemi, Fakhri Alsadat Anaraki, Behzad Hatami, Zhaleh Mohsenifar
INTRODUCTION: Familial adenomatous polyposis (FAP) may be associated with some extracolonic manifestations which in this vein, it is known as Gardner's syndrome. To our knowledge, so far, there is no report of mucinous cystadenoma in association with FAP. CASE PRESENTATION: We report a 31-year-old woman with FAP who underwent total proctocolectomy with ileal pouch-anal anastomosis 5 years earlier. During endoscopic surveillance, she was found to have a submucosal lesion in rectal cuff...
February 28, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28246467/familial-pancreatic-cancer-concept-management-and-issues
#19
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/28221248/early-transcriptomic-changes-in-the-ileal-pouch-provide-insight-into-the-molecular-pathogenesis-of-pouchitis-and-ulcerative-colitis
#20
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
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