A novel mutation of the succinate dehydrogenase B gene in a Korean family with pheochromocytoma.

abstract：:In the absence of a polyposis phenotype, colorectal cancer (CRC) patients referred for genetic testing because of early-onset disease and/or a positive family history, typically undergo testing for molecular signs of Lynch syndrome in their tumors. In the absence of these signs, DNA testing for germline mutations asso...

journal_title：Familial cancer

authors： Knopperts AP,Nielsen M,Niessen RC,Tops CM,Jorritsma B,Varkevisser J,Wijnen J,Siezen CL,Heine-Bröring RC,van Kranen HJ,Vos YJ,Westers H,Kampman E,Sijmons RH,Hes FJ

更新日期：2013-03-01 00:00:00

abstract：:Identifying a BRCA mutation among families with hereditary breast and ovarian cancer enables distinguishing those who may benefit from a specific medical management. This study aimed to evaluate the uptake of predictive testing among close relatives of a proband in Spanish families with a BRCA1 or BRCA2 mutation, and ...

journal_title：Familial cancer

authors： Sanz J,Ramón y Cajal T,Torres A,Darder E,Gadea N,Velasco A,Fortuny D,López C,Fisas D,Brunet J,Alonso MC,Balmaña J

更新日期：2010-09-01 00:00:00

abstract：:Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion...

journal_title：Familial cancer

authors： Robles-Díaz L,Goldfrank DJ,Kauff ND,Robson M,Offit K

更新日期：2004-01-01 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：:Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study has examined this among BRCA1/2 mutation carriers. The objectives of this study were to: (1) describe the ...

journal_title：Familial cancer

authors： Farrelly A,White V,Meiser B,Jefford M,Young MA,Ieropoli S,Winship I,Duffy J

更新日期：2013-09-01 00:00:00

abstract：:Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell ...

journal_title：Familial cancer

authors： Linder C,Smith MJ,Bulman M,Wallace A,Freemont AJ,Mangham DC,Evans DGR

更新日期：2019-01-01 00:00:00

abstract：:In rare cases the diagnosis of Familial Adenomatous Polyposis (FAP) may not be simple or straightforward. We describe the case of a 54-year man in whom endoscopic and histological features of FAP led to proctocolectomy with ileoanal anastomosis. At anatomical examination, air-filled cystic formations in the submucosa ...

journal_title：Familial cancer

authors： Ponz de Leon M,Bertarelli C,Casadei GP,Grilli A,Bacchini P,Pedroni M,Jovine E

更新日期：2013-09-01 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：:Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and P...

journal_title：Familial cancer

authors： Goverde A,Spaander MCW,Nieboer D,van den Ouweland AMW,Dinjens WNM,Dubbink HJ,Tops CJ,Ten Broeke SW,Bruno MJ,Hofstra RMW,Steyerberg EW,Wagner A

更新日期：2018-07-01 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：: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

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：:Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene heredit...

journal_title：Familial cancer

authors： Sutcliffe EG,Bartenbaker Thompson A,Stettner AR,Marshall ML,Roberts ME,Susswein LR,Wang Y,Klein RT,Hruska KS,Solomon BD

更新日期：2019-04-01 00:00:00

abstract：:Juvenile nasopharyngeal angiofibromas (JNAs) are rare tumors with prominent vascularity and locally destructive growth. The pathogenesis of JNA is largely unknown. A causal association between JNA and familial adenomatous polyposis has been suggested. Twenty-one patients diagnosed with juvenile angiofibroma filled out...

journal_title：Familial cancer

authors： Klockars T,Renkonen S,Leivo I,Hagström J,Mäkitie AA

更新日期：2010-09-01 00:00:00

abstract：:Increased risk for urological tumors has been observed in mutation carriers with Lynch syndrome (LS). In this study, we evaluated the clinical features of uroepithelial (bladder and ureter) and kidney cancers in 974 Finnish mutation carriers. Altogether 30 patients had a total of 34 urological tumors: 12 ureter, 12 bl...

journal_title：Familial cancer

authors： Aarnio M,Säily M,Juhola M,Gylling A,Peltomäki P,Järvinen HJ,Mecklin JP

更新日期：2012-09-01 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：: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：:Assessing adherence behavior among mutation carriers to cancer risk management guidelines is important for both service improvement and cost-effectiveness analyses, but such real-world data is often lacking. The present study aims to report adherence rates among mutation carriers in a recently established cancer genet...

journal_title：Familial cancer

authors： Courtney E,Chin XW,Yuen J,Li ST,Chen Y,Allen JC Jr,Tan V,Lim GH,Ngeow J

更新日期：2018-10-01 00:00:00

abstract：:Adult weight gain and central obesity can increase breast cancer risk. We determined the prevalence of adult weight gain and central obesity amongst women with a family history (FH) as compared to women with a population risk to determine whether adiposity could contribute to their increased risk. Adult weight gain, w...

journal_title：Familial cancer

authors： Harvie MN,Bokhari S,Shenton A,Ashcroft L,Evans G,Swindell R,Howell A

更新日期：2007-01-01 00:00:00

abstract：:The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would otherwise receive negative results from traditional testing of moderate- and high-risk genes. This study aimed to...

journal_title：Familial cancer

authors： Kaur R,Meiser B,Yanes T,Young MA,Barlow-Stewart K,Roscioli T,Smith S,James PA

更新日期：2019-04-01 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：:Since restorative proctocolectomy (RPC) with ileal-pouch anal anastomosis (IPAA) removes the entire diseased mucosa, it has become firmly established as the standard operative procedure of choice for familial adenomatous polyposis (FAP). Many technical controversies still persist, such as mesenteric lengthening techni...

journal_title：Familial cancer

authors： Kartheuser A,Stangherlin P,Brandt D,Remue C,Sempoux C

更新日期：2006-01-01 00:00:00

abstract：:This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 f...

journal_title：Familial cancer

authors： Jarry J,Brunet JS,Laframboise R,Drouin R,Latreille J,Richard C,Gekas J,Maranda B,Monczak Y,Wong N,Pouchet C,Zaor S,Kasprzak L,Palma L,Wu MK,Tischkowitz M,Foulkes WD,Chong G

更新日期：2011-12-01 00:00:00

abstract：:BRCA1 mutations predispose to early-onset breast cancer. We previously reported an association between absence of the common IGF1 19 CA-repeat allele (IGF1-19/-19) and being a BRCA1 mutation carrier in young women from breast cancer high-risk families. Others have reported a four-fold risk of premenopausal breast canc...

journal_title：Familial cancer

authors： Henningson M,Bågeman E,Sandberg T,Borg A,Olsson H,Jernström H

更新日期：2007-01-01 00:00:00

abstract：:Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficie...

journal_title：Familial cancer

authors： Wang T,Stadler ZK,Zhang L,Weiser MR,Basturk O,Hechtman JF,Vakiani E,Saltz LB,Klimstra DS,Shia J

更新日期：2018-04-01 00:00:00

abstract：:This article provides a historical overview of the online database ( www.insight-group.org/mutations ) maintained by the International Society for Gastrointestinal Hereditary Tumours. The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of...

journal_title：Familial cancer

authors： Plazzer JP,Sijmons RH,Woods MO,Peltomäki P,Thompson B,Den Dunnen JT,Macrae F

更新日期：2013-06-01 00:00:00

abstract：AIM:This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. MATERIAL AND METHODS:This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival par...

journal_title：Familial cancer

authors： Einbeigi Z,Bergman A,Meis-Kindblom JM,Flodin A,Bjursell C,Martinsson T,Kindblom LG,Wahlström J,Wallgren A,Nordling M,Karlsson P

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：OBJECTIVE:To determine the indications, patterns of practice, and complication rates for prophylactic oophorectomy in Ontario. METHODS:From hospital discharge abstracts, 82 hospitals were identified where at least one patient had a prophylactic oophorectomy since 1992. Ethics approval for the chart review was obtained...

journal_title：Familial cancer

authors： Elit L,Rosen B,Goel V,McLaughlin J,Fung MK,Shime J,Narod S

更新日期：2001-01-01 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