Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999.

abstract：:New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primaril...

journal_title：Familial cancer

authors： Hakkaart C,Ellison-Loschmann L,Day R,Sporle A,Koea J,Harawira P,Cheng S,Gray M,Whaanga T,Pearce N,Guilford P

更新日期：2019-01-01 00:00:00

abstract：:Tylosis with esophageal cancer (TOC) is a rare familial cancer syndrome inherited in an autosomal-dominant manner and characterized by esophageal cancer susceptibility and hyperkeratotic skin lesions. Two heterozygous missense mutations in the RHBDF2 gene were recently reported to be associated with TOC in three famil...

journal_title：Familial cancer

authors： Saarinen S,Vahteristo P,Lehtonen R,Aittomäki K,Launonen V,Kiviluoto T,Aaltonen LA

更新日期：2012-09-01 00:00:00

abstract：:PTCH1 and SUFU are both regulators of the sonic hedgehog signalling pathway. Germline inactivating mutations in both genes are associated with multisystem phenotypes including medulloblastoma. Somatic inactivating mutations in PTCH1 and SUFU each occur in approximately 10% of medulloblastomas. Recently, SUFU mutations...

journal_title：Familial cancer

authors： Slade I,Murray A,Hanks S,Kumar A,Walker L,Hargrave D,Douglas J,Stiller C,Izatt L,Rahman N

更新日期：2011-06-01 00:00:00

abstract：PURPOSE:The aim of the present descriptive study was to investigate the experience of sharing genetic information among cancer genetic counselees and their at-risk relatives. METHODS:In total, 147 cancer genetic counselees and 81 of their at-risk relatives answered to a study specific questionnaire and/or were intervi...

journal_title：Familial cancer

authors： Hayat Roshanai A,Lampic C,Rosenquist R,Nordin K

更新日期：2010-12-01 00:00:00

abstract：:Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas). These lesions are typically associated with tumors that belong to the spectrum of hereditary nonpol...

journal_title：Familial cancer

authors： Vernez M,Hutter P,Monnerat C,Halkic N,Gugerli O,Bouzourene H

更新日期：2007-01-01 00:00:00

abstract：:Genetic services are receiving increasing numbers of referrals of people with a family history of cancer for assessment of genetic risk, and therefore need to find cost-effective ways of meeting this rising demand. General Practitioners (GPs) are known to be reluctant to take on genetic consultations. Current evidence...

journal_title：Familial cancer

authors： Gulzar Z,Goff S,Njindou A,Hearty H,Rafi I,Savage R,Matta G,Ferras J,Hodgson S

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:Identification of a genetic basis underlying certain types of cancer has led to an increase in demand for genetic counseling about individual risks of the disease. We conducted a systematic review of the literature to determine the quality and strength of evidence relating to psychological outcomes of geneti...

journal_title：Familial cancer

authors： Braithwaite D,Emery J,Walter F,Prevost AT,Sutton S

更新日期：2006-01-01 00:00:00

abstract：:This study reports a randomized clinical trial evaluating the efficacy of an intervention to prepare individuals to communicate BRCA1/BRCA2 results to family members. Women aged 18 years and older, who had genetic testing, and who had adult first-degree relatives, were randomly assigned to a communication skills-build...

journal_title：Familial cancer

authors： Montgomery SV,Barsevick AM,Egleston BL,Bingler R,Ruth K,Miller SM,Malick J,Cescon TP,Daly MB

更新日期：2013-09-01 00:00:00

abstract：:MicroRNAs are a new class of non-proteincoding, small RNAs that function as tumor suppressors or oncogenes. They participate in diverse biological pathways and function as gene regulators. A G>C polymorphism (rs2910164), which is located in the sequence of miR-146a precursor, results in a change from G:U to C:U in its...

journal_title：Familial cancer

authors： Guo H,Wang K,Xiong G,Hu H,Wang D,Xu X,Guan X,Yang K,Bai Y

更新日期：2010-12-01 00:00:00

abstract：:African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process...

journal_title：Familial cancer

authors： Ding YC,Adamson AW,Steele L,Bailis AM,John EM,Tomlinson G,Neuhausen SL

更新日期：2018-04-01 00:00:00

abstract：:Possession of a BRCA1/2 mutation increases risk of contralateral breast and ovarian cancer recurrence and may have an impact on health management decisions, such as imaging screening, preventive surgical interventions and systemic therapies. A hospital-based study was conducted to assess the frequency and spectrum of ...

journal_title：Familial cancer

authors： Gaj P,Kluska A,Nowakowska D,Bałabas A,Piątkowska M,Dabrowska M,Niwińska A,Ostrowski J

更新日期：2012-12-01 00:00:00

abstract：:Increased insight into the information needs of people about cancer genetic predisposition could allow materials to be developed to improve decision-making for those at high risk, whilst those at lower risk could have their anxiety reduced without the need for referral to genetics services. This study aimed to identif...

journal_title：Familial cancer

authors： Metcalfe A,Werrett J,Burgess L,Chapman C,Clifford C

更新日期：2009-01-01 00:00:00

abstract：:Pheochromocytoma is a tumor that originates from the adrenal cortex and sympathetic chains. Most pheochromocytomas are sporadic, whereas others occur as hereditary syndromes. Familial pheochromocytoma has been frequently found in association with various mutations in genes of the succinate dehydrogenase family. A 21-y...

journal_title：Familial cancer

authors： Lee SA,Kim EH,Lee YM,Lee W,Min WK,Lee YJ,Huh JR,Lee WJ

更新日期：2010-12-01 00:00:00

abstract：:To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records of 96 probands with CRC diagnosed prior to age 36 from three...

journal_title：Familial cancer

authors： Jasperson KW,Vu TM,Schwab AL,Neklason DW,Rodriguez-Bigas MA,Burt RW,Weitzel JN

更新日期：2010-06-01 00:00:00

abstract：:Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first repor...

journal_title：Familial cancer

authors： Silva-Smith R,Sussman DA

更新日期：2018-01-01 00:00:00

abstract：:This study was aimed to characterize the distribution of colorectal cancer risk using family history of cancers by data mining. Family histories for 10,066 colorectal cancer cases recruited to population cancer registries of the Colon Cancer Family Registry were analyzed using a data mining framework. A novel index wa...

journal_title：Familial cancer

authors： Chau R,Jenkins MA,Buchanan DD,Ait Ouakrim D,Giles GG,Casey G,Gallinger S,Haile RW,Le Marchand L,Newcomb PA,Lindor NM,Hopper JL,Win AK

更新日期：2016-04-01 00:00:00

abstract：:The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigeneti...

journal_title：Familial cancer

authors： Buecher B,De Pauw A,Bazire L,Houdayer C,Fievet A,Moncoutier V,Farkhondeh F,Melaabi S,Lyonnet DS,Golmard L

更新日期：2018-04-01 00:00:00

abstract：:Germline CDH1 mutation carriers are at risk for early-onset diffuse gastric cancer (DGC) and female carriers have an additional risk of lobular breast cancer. The reported literature GC risk of 70% has led to the recommendation for germline mutation carriers to undergo prophylactic total gastrectomy (PTG). The objecti...

journal_title：Familial cancer

authors： Kaurah P,Talhouk A,MacMillan A,Lewis I,Chelcun-Schreiber K,Yoon SS,Huntsman D

更新日期：2019-10-01 00:00:00

abstract：:Lynch Syndrome is caused by mutations in DNA mismatch repair genes. Diagnosis is not always trivial and may be costly. Information regarding incidence, genotype-phenotype correlation, spectrum of mutations and genes involved in specific populations facilitate the diagnostic process and contribute to clinical work-up. ...

journal_title：Familial cancer

authors： Goldberg Y,Kedar I,Kariiv R,Halpern N,Plesser M,Hubert A,Kaduri L,Sagi M,Lerer I,Abeliovich D,Hamburger T,Nissan A,Goldshmidt H,Solar I,Geva R,Strul H,Rosner G,Baris H,Levi Z,Peretz T

更新日期：2014-03-01 00:00:00

abstract：:A new BRCA1 locus product called BRCA1-IRIS has been identified recently. High-risk breast/ovarian families have not been screened for germ-line mutations at the specific BRCA1-IRIS coding sequence, as it was considered merely as part of BRCA1 intron 11. Here we report the first comprehensive screening of germ-line mu...

journal_title：Familial cancer

authors： de la Hoya M,Fernández JM,Sánchez de Abajo A,Tosar A,Díaz-Rubio E,Caldés T

更新日期：2005-01-01 00:00:00

abstract：:In the inherited syndromes, MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colorectal cancer (HNPCC), somatic mutations occur due to loss of the caretaker function that base-repair (BER) and mismatch repair (MMR) genes have, respectively. Recently, we identified a large branch from a MSH6 HNPCC family in...

journal_title：Familial cancer

authors： van Puijenbroek M,Nielsen M,Reinards TH,Weiss MM,Wagner A,Hendriks YM,Vasen HF,Tops CM,Wijnen J,van Wezel T,Hes FJ,Morreau H

更新日期：2007-01-01 00:00:00

abstract：:Inherited colorectal cancer predisposition involves a rather heterogeneous range of rare, yet relatively well-defined disorders, including Familial Adenomatous Polyposis (FAP), Hereditary Non-polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, Peutz-Jeghers syndrome, Juvenile Polyposis, and their respective variant...

journal_title：Familial cancer

authors： Lynch PM

更新日期：2008-01-01 00:00:00

abstract：:Founder mutations in BRCA1/2 genes have been detected in several Jewish communities in Israel, including in Ashkenazi Jews and Jews who immigrated to Israel from Iraq, Yemen, Iran and Afghanistan. We analyzed DNA samples of patients of Sephardic origin (descendents of Jews from the Iberian Peninsula) with breast cance...

journal_title：Familial cancer

authors： Sagi M,Eilat A,Ben Avi L,Goldberg Y,Bercovich D,Hamburger T,Peretz T,Lerer I

更新日期：2011-03-01 00:00:00

abstract：:The hereditary forms of colorectal cancer have been given many names historically as the manifestations have been gradually understood. Lynch syndrome has had several names, most prominently 'Hereditary Nonpolyposis Colorectal Cancer' or HNPCC. Clarification of the genetic basis and full phenotypic expression of this ...

journal_title：Familial cancer

authors： Boland CR

更新日期：2005-01-01 00:00:00

abstract：:Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has...

journal_title：Familial cancer

authors： Gass J,Jackson J,Macklin S,Blackburn P,Hines S,Atwal PS

更新日期：2017-10-01 00:00:00

abstract：:Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In f...

journal_title：Familial cancer

authors： Qureshi N,Dutton B,Weng S,Sheehan C,Chorley W,Robertson JFR,Kendrick D,Kai J

更新日期：2020-06-11 00:00:00

abstract：:The implementation of regular colonoscopy programs has significantly decreased the mortality associated with colorectal cancer (CRC) in Lynch syndrome patients. However, interval CRCs in Lynch syndrome that remain undetected by colonoscopy still represent a substantial problem in the management of the syndrome. One po...

journal_title：Familial cancer

authors： Ahadova A,von Knebel Doeberitz M,Bläker H,Kloor M

更新日期：2016-10-01 00:00:00

abstract：BACKGROUND:Colorectal cancers resulting from defective DNA mismatch repair can occur in both hereditary non-polyposis colon cancer (HNPCC) and in the sporadic setting. They are characterised by a high level of microsatellite instability (MSI-H) and superficially resemble each other in that they are frequently located i...

journal_title：Familial cancer

authors： McGivern A,Wynter CV,Whitehall VL,Kambara T,Spring KJ,Walsh MD,Barker MA,Arnold S,Simms LA,Leggett BA,Young J,Jass JR

更新日期：2004-01-01 00:00:00

abstract：:Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify H...

journal_title：Familial cancer

authors： Nilbert M,Therkildsen C,Nissen A,Akerman M,Bernstein I

更新日期：2009-01-01 00:00:00

abstract：:CAPP1 tested aspirin 600 mg/day and/or resistant starch 30 g/day in 200 adolescent FAP carriers. Aspirin treatment resulted in a non-significant reduction in polyp number and a significant reduction in polyp size among patients treated with aspirin for more than 1 year. CAPP2 RCT used the same interventions in 937 Lyn...

journal_title：Familial cancer

authors： Burn J,Mathers JC,Bishop DT

更新日期：2013-12-01 00:00:00