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Hereditary colon cancer

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https://www.readbyqxmd.com/read/28103454/phenotypic-heterogeneity-by-germline-mismatch-repair-gene-defect-in-lynch-syndrome-patients
#1
Jorge Hernâni-Eusébio, Elisabete Barbosa
INTRODUCTION: Lynch syndrome is the most common form of hereditary colorectal cancer, being also responsible for endometrial and other types of cancers. It is associated with germline mutations in DNA mismatch repair genes and microsatellite instability. MLH1 and MSH2 mutations have a "classical" Lynch syndrome phenotype, with MSH2 having a higher association with extracolonic cancer. MSH6 and PMS2 mutations have an atypical phenotype. Clinical expression is heterogeneous, with correlation between mismatch repair mutated gene and phenotypic patterns...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#2
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/28039328/outcome-of-24%C3%A2-years-national-surveillance-in-different-hereditary-colorectal-cancer-subgroups-leading-to-more-individualised-surveillance
#3
Lars Joachim Lindberg, Steen Ladelund, Birgitte Lidegaard Frederiksen, Lars Smith-Hansen, Inge Bernstein
BACKGROUND: Individuals with hereditary non-polyposis colorectal cancer (HNPCC) have a high risk of colorectal cancer (CRC). The benefits of colonic surveillance in Lynch syndrome and Amsterdam-positive (familial CRC type X familial colorectal cancer type X (FCCTX)) families are clear; only the interval between colonoscopies is debated. The potential benefits for families not fulfilling the Amsterdam criteria are uncertain. The aim of this study was to compare the outcome of colonic surveillance in different hereditary subgroups and to evaluate the surveillance programmes...
December 30, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27989630/-specificities-of-carcinomas-in-adolescents-and-young-adults
#4
REVIEW
Brice Fresneau, Marie-Emilie Dourthe, Anaïs Jouin, Valérie Laurence, Guénolée de Lambert, Christelle Colas, Mathilde Coret, Anne Laprie, Céleste Rebours, Daniel Orbach, Charlotte Demoor-Goldschmidt
Carcinomas are rare tumors of the adolescent-young adult (AYA) with a different spectrum from those of adults. The most common sites outside of the thyroid is the nasopharynx, salivary gland, colon-rectum and ovaries. If nasopharyngeal carcinoma or salivary gland tumors are good prognosis, others are more reserved prognosis, such as digestive carcinomas, gynecological or midline. The revelation modes are non-specific and depend on the location: mass, tumor syndrome, pain, impaired general condition. The unusual of pediatric carcinomas led to propose a systematic oncogenetic exploration...
December 15, 2016: Bulletin du Cancer
https://www.readbyqxmd.com/read/27881072/patients-with-longstanding-ulcerative-colitis-in-remission-do-not-have-more-irritable-bowel-syndrome-like-symptoms-than-controls
#5
D Lundgren, J Rutegård, V Eklöf, R Palmqvist, P Karling
BACKGROUND: Irritable bowel syndrome (IBS) is more common in patients with ulcerative colitis (UC) than expected. The prevalence of IBS in patients with UC with longstanding disease is not known. We investigated the prevalence of IBS-like symptoms in patients with UC in remission and longstanding disease in comparison to control subjects. METHODS: Sixty-eight patients with UC and 33 patients with hereditary familiar colon cancer and who underwent colonoscopy surveillance were included...
November 24, 2016: BMC Gastroenterology
https://www.readbyqxmd.com/read/27872975/identification-of-recurrence-predictive-indicators-in-stage-i-colorectal-cancer
#6
Jun Ho Lee, Jong Lyul Lee, In Ja Park, Seok-Byung Lim, Chang Sik Yu, Jin Cheon Kim
BACKGROUND: Patients with stage I colorectal cancer (CRC) rarely experience recurrences; therefore, few risk factors for recurrence are known. This study was designed to evaluate oncologic outcomes of patients with stage I CRC and to identify risk factors for recurrence after curative surgery. METHODS: A retrospective cohort of 860 patients from a single institution who underwent curative surgery for stage I CRC between July 1995 and June 2010 was enrolled. Patients who were diagnosed with hereditary, synchronous, or metachronous cancer and those who received preoperative chemoradiotherapy were excluded...
November 21, 2016: World Journal of Surgery
https://www.readbyqxmd.com/read/27866339/recurrent-tp53-missense-mutation-in-cancer-patients-of-arab-descent
#7
Aviad Zick, Luna Kadouri, Sherri Cohen, Michael Frohlinger, Tamar Hamburger, Naama Zvi, Morasha Plaser, Eilat Avital, Shani Breuier, Firase Elian, Azzam Salah, Yael Goldberg, Tamar Peretz
Hereditary cancer comprises more than 10% of all breast cancer cases. Identification of germinal mutations enables the initiation of a preventive program that can include early detection or preventive treatment and may also have a major impact on cancer therapy. Several recurrent mutations were identified in the BRCA1/2 genes in Jewish populations however, in other ethnic groups in Israel, no recurrent mutations were identified to date. Our group established panel sequencing in cancer patients to identify recurrent, founder, and new mutations in the heterogeneous and diverse populations in Israel, We evaluated five breast cancer patients of Arab descent diagnosed with cancer before the age of 50 years and identified the previously described TP53 mutation, c...
November 19, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27856366/advanced-stage-colorectal-cancer-in-persons-younger-than-50-years-not-associated-with-longer-duration-of-symptoms-or-time-to-diagnosis
#8
Frank W Chen, Vandana Sundaram, Thomas A Chew, Uri Ladabaum
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) is increasing in the United States among adults younger than the age of 50 years. Studies of young-onset CRC have focused on outcomes and treatment patterns. We examined patient presentation, provider evaluation, and time to diagnosis, which can affect stage and prognosis. METHODS: In a retrospective study, we collected data from patients with a diagnosis of colorectal adenocarcinoma, confirmed by pathologists, seen at the Stanford Cancer Institute from January 1, 2008, through December 31, 2014...
November 14, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27844240/identification-of-a-rare-germline-nbn-gene-mutation-by-whole-exome-sequencing-in-a-lung-cancer-survivor-from-a-large-family-with-various-types-of-cancer
#9
Makia J Marafie, Mohammed Dashti, Fahd Al-Mulla
Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of malignancy. We have investigated an individual with lung cancer from an extended family segregating different types of hereditary cancer over several generations, including lung, breast, ovarian, colon, prostate and renal cancers...
November 14, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27785421/lynch-syndrome-and-exposure-to-aristolochic-acid-in-upper-tract-urothelial-carcinoma-its-clinical-impact
#10
REVIEW
Pierre Colin, Thomas Seisen, Romain Mathieu, Sharohkh F Shariat, Morgan Rouprêt
The purpose of the current review was to describe the clinical risk for Lynch syndrome (LS) after exposure to aristolochic acid (AA) in cases of upper urinary-tract urothelial carcinoma (UTUC). A systematic review of the scientific literature was performed using the Medline database (National Library of Medicine, PubMed) using the following keywords: epidemiology, risk factor, AA, Balkan nephropathy (BNe), LS, hereditary cancer, hereditary non-polyposis colorectal cancer (HNPCC), mismatch repair genes, urothelial carcinomas, upper urinary tract, renal pelvis, ureter, Amsterdam criteria, genetic counselling, mismatch repair genes, genetic instability, microsatellite, and Bethesda guidelines...
October 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27777639/differences-in-neuropsychological-and-behavioral-parameters-and-brain-structure-in-patients-with-familial-adenomatous-polyposis-a-sibling-paired-study
#11
Ana Sánchez Azofra, Trilokesh D Kidambi, Rita J Jeremy, Peggy Conrad, Amie Blanco, Megan Myers, James Barkovich, Jonathan P Terdiman
BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case reports have noted an association with FAP and intellectual disability and animal studies have shown that APC is implicated in neural development and function, but no studies have investigated neuropsychological, behavioral, or structural brain characteristics of patients with FAP...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27642480/-lynch-syndrome-case-report-and-review-of-the-literature
#12
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
https://www.readbyqxmd.com/read/27630275/update-on-hereditary-colorectal-cancer
#13
REVIEW
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...
2016: Anticancer Research
https://www.readbyqxmd.com/read/27580697/contribution-of-extended-family-history-in-assessment-of-risk-for-breast-and-colon-cancer
#14
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
https://www.readbyqxmd.com/read/27477802/hamartomatous-polyps-a-clinical-and-molecular-genetic-study
#15
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
https://www.readbyqxmd.com/read/27331139/triple-synchronous-primary-malignancies-of-the-colon-endometrium-and-kidney-in-a-patient-with-lynch-syndrome-treated-via-minimally-invasive-techniques
#16
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
https://www.readbyqxmd.com/read/27295708/-founder-mutation-in-lynch-syndrome
#17
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
https://www.readbyqxmd.com/read/27279518/spontaneous-ileostomy-closure
#18
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
https://www.readbyqxmd.com/read/27256336/effect-of-insulin-and-metformin-combination-treatment-on-colon-adenoma-and-advanced-adenoma-among-dm-ii
#19
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...
December 2016: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/27095653/chemoprevention-of-hereditary-colon-cancers-time-for-new-strategies
#20
REVIEW
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
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