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Hereditary colon cancer

Laila Bouguenouch, Imane Samri, Khadija Belhassan, Hanane Sayel, Meriame Abbassi, Sanae Bennis, Dafr Allah Benajah, Adil Ibrahimi, Afaf Amarti, Karim Ouldim
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancers. It increases cancer susceptibility, the risk of colorectal cancer in first-degree, endometrial cancer in women, and to a lesser extent, other cancers (ovarian, small bowel, stomach, urinary tract and hepatobiliary). Thus, the cumulative risk of developing colorectal cancer or endometrial cancer at the age of 80 years rises to 20 and 40% respectively. These cancers are characterized by a positive family history, their occurrence at an early age, and by the development of metachronous cancers in the same individual...
2016: Pan African Medical Journal
Felipe Carneiro DA Silva, Patrik Wernhoff, Constantino Dominguez-Barrera, Mev Dominguez-Valentin
In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have significant phenotypic overlapping that makes clinical diagnosis a challenging task. Distinguishing among the HNPCC disorders is clinically important, as the approach to surveillance for patients and their at-risk family members differs according to risks for colonic and extracolonic cancer associated with each syndrome...
September 2016: Anticancer Research
Benjamin L Solomon, Todd Whitman, Marie E Wood
BACKGROUND: Family history is important for identifying candidates for high risk cancer screening and referral for genetic counseling. We sought to determine the percentage of individuals who would be eligible for high risk cancer screening or genetic referral and testing if family history includes an extended (vs limited) family history. METHODS: Family histories were obtained from 626 women at UVMMC associated mammography centers from 2001 to 2002. ACS guidelines were used to determine eligibility for high risk breast or colon cancer screening...
2016: BMC Family Practice
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
Luis E Mendez, Jacqueline Atlass
Coexisting primary malignancies have been described at length in the literature. While double primary malignancies are relatively common, three synchronous primary malignancies are extremely rare. We describe a case of a 60-year-old woman undergoing surgery for a known endometrial carcinoma. The patient also had a renal mass that was identified as a clear cell renal cell carcinoma and an additional lesion in the colon that was a mucinous adenocarcinoma. Further genetic testing of the patient revealed a deleterious MSH6 mutation suggestive of Lynch syndrome...
August 2016: Gynecologic Oncology Reports
Andrea R Cajal, Tamara A Piñero, Alicia Verzura, Juan Pablo Santino, Angela R Solano, Pablo G Kalfayan, Alejandra Ferro, Carlos Vaccaro
Lynch syndrome is the most frequent syndrome in hereditary colorectal cancer, a family-specific deleterious mutations in genes encoding DNA reparation proteins: MLH1 (mutL homolog 1), MSH2, MSH6 (mutS homolog 2 y 6, respectively), PMS2 (PMS1 homolog 2, mismatch repair system component) y MUTYH (mutY DNA glycosylase). The c.2252_2253delAA, p.Lys751Serfs*3 mutation in MLH1 gene segregates with a haplotype reported in the northern region of Italy and whose origin was attributed to a founder effect. This mutation co-segregates with typical characteristics of Lynch syndrome, including early age at onset and multiple primary tumors in the same individual, a high frequency of pancreatic cancer, high microsatellite instability and lack of PMS2 expression...
2016: Medicina
Mohammad S Alyami, Peter W Lundberg, Eddy G Cotte, Olivier J Glehen
Iatrogenic ileostomies are routinely placed during colorectal surgery for the diversion of intestinal contents to permit healing of the distal anastomosis prior to elective reversal. We present an interesting case of spontaneous closure of a diverting ileostomy without any adverse effects to the patient. A 65-year-old woman, positive for hereditary non-polyposis colorectal cancer type-I, with locally invasive cancer of the distal colon underwent en-bloc total colectomy, hysterectomy, and bilateral salpingoophorectomy with creation of a proximal loop ileostomy...
June 2016: Saudi Medical Journal
Deepanshu Jain, Ankit Chhoda, Jorge Uribe
BACKGROUND: The risk for colorectal adenoma and advanced adenoma among diabetes mellitus II (DM II) has been debated to differ with the type of anti-diabetic therapy. Insulin increases whereas metformin decreases the risk for colon adenoma (Ad) and advanced Ad (AAd). There have been no studies to evaluate the effect of combination treatment with insulin and metformin on colon Ad and AAd. METHODS: The retrospective study included DM II patients undergoing screening colonoscopy...
June 3, 2016: Journal of Gastrointestinal Cancer
Luigi Ricciardiello, Dennis J Ahnen, Patrick M Lynch
Colorectal cancer (CRC) is potentially preventable. Chemoprevention, a focus of research for the past three decades, aims to prevent or delay the onset of cancer through the regression or prevention of colonic adenomas. Ideal pharmacological agents for chemoprevention should be cheap and nontoxic. Although data indicate that aspirin can reduce the risk of CRC in the general population, the highest return from chemopreventive strategies would be expected in patients with the highest risk of developing the disease, particularly those with a defined hereditary predisposition...
June 2016: Nature Reviews. Gastroenterology & Hepatology
Jordan J Karlitz, Meredith R Sherrill, Daniel V DiGiacomo, Mei-Chin Hsieh, Beth Schmidt, Xiao-Cheng Wu, Vivien W Chen
OBJECTIVES: Early-onset colorectal cancer (CRC) incidence rates are rising. This group is susceptible to heritable conditions (i.e., Lynch syndrome (LS)) and inflammatory bowel disease (IBD) with high metachronous CRC rates after segmental resection. Hence, extended colonic resection (ECR) is often performed and considered generally in young patients. As there are no population-based studies analyzing resection extent in early-onset CRC, we used CDC Comparative Effectiveness Research (CER) data to assess state-wide operative practices...
2016: Clinical and Translational Gastroenterology
Jeremy L Humphris, Andrew V Biankin
Hereditary pancreatic cancer can be diagnosed through family history and/or a personal history of pancreatitis or clinical features suggesting one of the known pancreatic cancer predisposition syndromes. This chapter describes the currently known hereditary pancreatic cancer predisposition syndromes, including Peutz-Jeghers syndrome, familial atypical multiple mole melanoma, hereditary breast and ovarian cancer, Li-Fraumeni syndrome, hereditary non-polyposis colon cancer and familial adenomatous polyposis. Strategies for genetic testing for hereditary pancreatic cancer and the appropriate options for surveillance and cancer risk reduction are discussed...
2016: Recent Results in Cancer Research
Cornelius A Thiels, Nimesh D Naik, John R Bergquist, Blake A Spindler, Elizabeth B Habermann, Scott R Kelley, Bruce G Wolff, Kellie L Mathis
BACKGROUND: Synchronous colon cancers, defined as two or more primary colon cancer detected simultaneously at the time of initial diagnosis, account for up to 5% of all colon cancer diagnoses. Management principles and outcomes remain largely undefined. METHODS: A retrospective institutional review of patients undergoing curative intent resection for colon adenocarcinoma (Stages I-III) from 1995 to 2007 was performed. Hereditary causes or inflammatory bowel disease were excluded...
July 2016: Journal of Surgical Oncology
Seth Septer, Caitlin E Lawson, Shrikant Anant, Thomas Attard
Familial adenomatous polyposis (FAP) is a hereditary condition with a near 100 % lifetime risk of colorectal cancer without prophylactic colectomy. Most patients with FAP have a mutation in the adenomatous polyposis coli gene on chromosome 5q22. This condition frequently presents in children with polyps developing most frequently in the second decade of life and surveillance colonoscopy is required starting at age ten. Polyps are found not only in the colon, but in the stomach and duodenum. Knowledge of the natural history of FAP is important as there are several extra-colonic sequelae which also require surveillance...
July 2016: Familial Cancer
Wael M Abdel-Rahman, Johanna E Lotsari-Salomaa, Sippy Kaur, Anni Niskakoski, Sakari Knuutila, Heikki Järvinen, Jukka-Pekka Mecklin, Päivi Peltomäki
All colorectal cancer cell lines except RKO displayed active β-catenin/TCF regulated transcription. This feature of RKO was noted in familial colon cancers; hence our aim was to dissect its carcinogenic mechanism. MFISH and CGH revealed distinct instability of chromosome structure in RKO. Gene expression microarray of RKO versus 7 colon cancer lines (with active Wnt signaling) and 3 normal specimens revealed 611 differentially expressed genes. The majority of the tested gene loci were susceptible to LOH in primary tumors with various β-catenin localizations as a surrogate marker for β-catenin activation...
2016: Gastroenterology Research and Practice
Marina Frimer, Kelly S Levano, Alicia Rodriguez-Gabin, Yanhua Wang, Gary L Goldberg, Susan Band Horwitz, June Y Hou
OBJECTIVE: Treatment options are limited for patients with uterine serous carcinoma (USC). Knowledge of USC's somatic mutation landscape is rapidly increasing, but its role in hereditary cancers remains unclear. We aim to evaluate the frequency and characteristics of germline mutations in genes commonly implicated in carcinogenesis, including those within homologous recombination (HR) and mismatch repair (MMR) pathways in patients with pure USC. METHODS: By using targeted capture exome sequencing, 43 genes were analyzed in a cohort of 7 consecutive patients with paired tumor and non-tumor USC samples in our institutional tumor repository...
April 2016: Gynecologic Oncology
Stephanie A Cohen, Christopher A Tan, Ryan Bisson
The utilization of next-generation sequencing technology to interrogate multiple genes simultaneously is being utilized more frequently in hereditary cancer testing. While this has benefits of reducing cost and allowing clinicians to cast a wide net in the elucidation of their patient's cancer, panel testing has the potential to reveal unexpected information. We report on a proband with pathogenic variants resulting in two different hereditary colon cancer syndromes. A 39-year-old male with a history of colon cancer, more than 20 colon polyps and a family history of colon cancer presented for genetic counseling...
2016: Frontiers in Genetics
Yuichiro Yoshioka, Hiroaki Nozawa, Junichiro Tanaka, Takeshi Nishikawa, Toshiaki Tanaka, Tomomichi Kiyomatsu, Kazushige Kawai, Keisuke Hata, Shinsuke Kazama, Hironori Yamaguchi, Soichiro Ishihara, Eiji Sunami, Joji Kitayama, Toshiaki Watanabe
Patients with hereditary hemorrhagic telangiectasia (HHT) are reportedly at a lower overall risk of malignancies, and small bowel adenocarcinoma (SBA) arising in a HHT patient is extremely rare. In this study, the case of a 37-year-old female with HHT who developed a poorly differentiated jejunal adenocarcinoma five years after ileocecal resection for multiple colonic adenomas is presented. The patient underwent curative resection of the cancer invading the ileum and the mesentery of the transverse colon, but had to overcome critical complications perioperatively, stemming from HHT-associated peripheral capillary dilatation and arteriovenous malformation, including nosebleeds and possible infusion-induced air embolism through pulmonary shunts...
March 2016: Oncology Letters
Maysaa El Zoghbi, Linda C Cummings
Colorectal cancer (CRC) is the 2(nd) most common cancer in women and 3(rd) most common cancer in men worldwide. Most CRCs develop from adenomatous polyps arising from glandular epithelium. Tumor growth is initiated by mutation of the tumor suppressor gene APC and involves other genetic mutations in a stepwise process over years. Both hereditary and environmental factors contribute to the development of CRC. Screening has been proven to reduce the incidence of CRC. Screening has also contributed to the decrease in CRC mortality in the United States...
March 10, 2016: World Journal of Gastrointestinal Endoscopy
Stephen K H Li, Alberto Martin
Colorectal cancer (CRC) remains one of the most prevalent cancers worldwide. In sporadic CRC, mutations frequently occur in the DNA mismatch repair (MMR) pathway. In addition, germline MMR mutations have been linked to Lynch syndrome, the most common form of hereditary CRC. Although genetic mutations, diet, inflammation, and the gut microbiota can influence CRC, it is unclear how MMR deficiency relates to these factors to modulate disease. In this review, the association of MMR to the etiology of CRC is examined, particularly in the context of microRNAs (miRNAs), inflammation, and the microbiome...
April 2016: Trends in Molecular Medicine
James Ziai, Ellen Matloff, Jaehyuk Choi, Ninani Kombo, Miguel Materin, Allen E Bale
Hereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1 with mixed polyposis and further defines the phenotype seen with this mutation...
2016: Genetics Research
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