The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

abstract：:Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family hist...

journal_title：Familial cancer

authors： Mann K,Magee J,Guillaud-Bataille M,Blondel C,Bressac-de Paillerets B,Yeatman J,Winship I

更新日期：2015-03-01 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：: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：: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：:One of a pair of monozygous twins was diagnosed and died of small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) at the age of 30 years. Her sister remained unaffected and was very concerned about her risk for developing SCCOHT. By performing comprehensive molecular analysis using whole exome sequencing (W...

journal_title：Familial cancer

authors： Fahiminiya S,Sabbaghian N,Albrecht S,Nadaf J,Callegaro-Filho D,Foulkes WD

更新日期：2019-04-01 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：: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 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：:The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these g...

journal_title：Familial cancer

authors： Win AK,Reece JC,Buchanan DD,Clendenning M,Young JP,Cleary SP,Kim H,Cotterchio M,Dowty JG,MacInnis RJ,Tucker KM,Winship IM,Macrae FA,Burnett T,Le Marchand L,Casey G,Haile RW,Newcomb PA,Thibodeau SN,Lindor NM,Hopper

更新日期：2015-12-01 00:00:00

abstract：:Genetic testing for cancer susceptibility genes is increasingly being integrated into medical care. Test results help inform risks of the individual being tested as well as family members who could benefit from knowing the results. The responsibility for informing relatives of genetic test results falls on the proband...

journal_title：Familial cancer

authors： Daly MB,Montgomery S,Bingler R,Ruth K

更新日期：2016-10-01 00:00:00

abstract：BACKGROUND:Three mutations in BRCA1 (185delAG 5382InsC) and BRCA2 (6174delT) can be detected in a substantial proportion of Jewish Ashkenazi breast/ovarian cancer families. Family-specific pathogenic mutations in both genes can be detected in up to 5% of high risk Ashkenazim. The contribution of major gene rearrangemen...

journal_title：Familial cancer

authors： Distelman-Menachem T,Shapira T,Laitman Y,Kaufman B,Barak F,Tavtigian S,Friedman E

更新日期：2009-01-01 00:00:00

abstract：:Knowledge about interest in genetic testing and willingness-to-pay for a genetic test among men affected from prostate cancer (PCa) is limited. This study aimed to gain insight into men's attitudes in genetic testing for PCa. 4699 men with PCa from the German multicenter prospective database "Familial Prostate Cancer"...

journal_title：Familial cancer

authors： Mayer M,Selig K,Tüttelmann F,Dinkel A,Gschwend JE,Herkommer K

更新日期：2019-04-01 00:00:00

abstract：:A diagnosis of clear cell chondrosarcoma of the ulna was made in a patient with Von Hippel-Lindau disease (VHL). After surgery, genetic analysis of the tumor tissue showed loss of heterozygosity at the VHL gene locus. Immunohistochemical analysis confirmed loss of expression of the VHL protein in the tumor cells. In a...

journal_title：Familial cancer

authors： Dreijerink KMA,van Leeuwaarde RS,Hackeng WM,Giles RH,de Leng WWJ,Jutte PC,Suurmeijer AJH,van Nesselrooij BPM,Brosens LAA

更新日期：2020-01-01 00:00:00

abstract：:Lynch syndrome (LS) is a genetic condition conferring an elevated risk of gastrointestinal, gynecologic and other malignancies, often before the age of 50. Current guidelines recommend prophylactic gynecologic surgery to manage inherited cancers for female mutation carriers. Data is lacking on women's quality of life ...

journal_title：Familial cancer

authors： Etchegary H,Dicks E,Tamutis L,Dawson L

更新日期：2018-01-01 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：:De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected...

journal_title：Familial cancer

authors： Schwab AL,Tuohy TM,Condie M,Neklason DW,Burt RW

更新日期：2008-01-01 00:00:00

abstract：:Lynch Syndrome (LS) is a cancer susceptibility syndrome caused mostly by mutations in the mismatch repair genes, hMLH1, hMSH2 and hMSH6. Mutation carriers are at risk of colorectal and endometrial cancer and, less frequently, cancer of the ovaries, stomach, small bowel, hepatobiliary tract, ureter, renal pelvis and br...

journal_title：Familial cancer

authors： Blokhuis MM,Pietersen GE,Goldberg PA,Algar U,Van der Merwe L,Mbatani N,Vorster AA,Ramesar RS

更新日期：2010-09-01 00:00:00

abstract：:Lynch syndrome is the most frequent hereditary colorectal cancer (CRC) syndrome, affecting approximately 1 in 300 in the Western population. It is caused by pathogenic variants in the mismatch repair (MMR) genes including MLH1, MSH2 (EPCAM), MSH6 and PMS2, and is associated with high risks of CRC, endometrial cancer a...

journal_title：Familial cancer

authors： Vasen HFA

更新日期：2021-01-19 00:00:00

abstract：:Germline variants in the APC and MUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in individuals of different ancestries. The aim of this study was to evaluate the prevalence of APC, monoallelic MUTYH and biallelic MUTYH germline variants in Ashkenazi Jewish...

journal_title：Familial cancer

authors： Ukaegbu C,Levi Z,Fehlmann TD,Uno H,Chittenden A,Inra JA,Grover S,Kastrinos F,Syngal S,Yurgelun MB

更新日期：2020-08-03 00:00:00

abstract：:Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genet...

journal_title：Familial cancer

authors： Jarhelle E,Riise Stensland HM,Mæhle L,Van Ghelue M

更新日期：2017-01-01 00:00:00

abstract：:Treatment of nasopharyngeal carcinoma (NPC) can be improved by early detection of the disease as treatment outcome worsens with disease's progression. This can be achieved with a mass screening program using Epstein Barr virus (EBV) serology and nasopharyngoscopy. The efficacy of any screening strategy should be evalu...

journal_title：Familial cancer

authors： Choi CW,Lee MC,Ng WT,Law LY,Yau TK,Lee AW

更新日期：2011-03-01 00:00:00

abstract：:This article is based upon a literature overview of cancer in Jews. It involves a comparison of variation in incidence and prevalence rates between Jews and non-Jews. However, the reader must exercise a certain amount of skepticism when considering secular changes in cancer incidence and prevalence and the public heal...

journal_title：Familial cancer

authors： Lynch HT,Rubinstein WS,Locker GY

更新日期：2004-01-01 00:00:00

abstract：:The rapidly increasing of cancer risk nationwide and worldwide has threatened human health and caused the changes of disease and death spectrum. MicroRNA (MiRNA) as cancer biomarker on susceptibility has enjoyed a high level of concern. This article will discuss the association between miR-146 rs2910164 polymorphism a...

journal_title：Familial cancer

authors： Hao X,Xia L,Qu R,Yang X,Jiang M,Zhou B

更新日期：2018-07-01 00:00:00

abstract：:Desmoid tumors occur with high frequency in individuals with Familial Adenomatous Polyposis (FAP). Because of this, individuals developing desmoid tumors may be referred for genetic risk assessment. Determining whether a person has a FAP-related desmoid tumor or a sporadic desmoid can be challenging. We sought to char...

journal_title：Familial cancer

authors： Fallen T,Wilson M,Morlan B,Lindor NM

更新日期：2006-01-01 00:00:00

abstract：:To evaluate perceived pain during repetitive annual endometrial sampling at gynaecologic surveillance in asymptomatic women with Lynch syndrome (LS) over time and in addition to symptomatic women without LS, undergoing single endometrial sampling. In this prospective study, 52 women with LS or first degree relatives w...

journal_title：Familial cancer

authors： Helder-Woolderink J,de Bock G,Hollema H,van Oven M,Mourits M

更新日期：2017-04-01 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

abstract：:Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with a...

journal_title：Familial cancer

authors： Antelo M,Milito D,Rhees J,Roca E,Barugel M,Cuatrecasas M,Moreira L,Leoz ML,Carballal S,Ocaña T,Pellisé M,Castells A,Boland CR,Goel A,Balaguer F

更新日期：2015-09-01 00:00:00

abstract：:Cowden syndrome (CS) is a cancer predisposition syndrome caused by germline mutations in the PTEN tumor suppressor gene. It is associated with an increased risk of thyroid, breast and endometrial cancer but many manifestations can be found in the head and neck region, some of which are pathognomonic. Here we report a ...

journal_title：Familial cancer

authors： Villeneuve H,Tremblay S,Galiatsatos P,Hamel N,Guertin L,Morency R,Tischkowitz M

更新日期：2011-12-01 00:00:00

abstract：:Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. Patients not ready or fit ...

journal_title：Familial cancer

authors： Hallowell N,Badger S,Richardson S,Caldas C,Hardwick RH,Fitzgerald RC,Lawton J

更新日期：2016-10-01 00:00:00

abstract：:The succinate dehydrogenase (SDH) is a mitochondrial enzyme complex with an important role in oxydative phosphorylation and intracellular oxygene sensing and signaling. Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paragan...

journal_title：Familial cancer

authors： Pawlu C,Bausch B,Neumann HP

更新日期：2005-01-01 00:00:00