当前位置： SCI文献检索 > Familial Cancer期刊下所有文献 > Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

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 families: a p.Ile186Thr mutation was found in families from the UK and the US and a p.Pro189Leu mutation was detected in a German TOC family. We aimed to validate these novel results in an independent material by screening RHBDF2 in a previously unreported Finnish TOC family. We identified a new missense mutation, p.Asp188Asn, segregating with TOC in the Finnish family, and interestingly the detected mutation alters a codon located between the two previously reported mutation sites. Thus, we confirmed RHBDF2 mutations as the underlying cause of the TOC syndrome and our results suggest that the TOC associated mutations might be specific for this particular site in the RHBDF2 gene. These results enable the genetic counseling and diagnostic mutation screening of the members of TOC families.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

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

doi

10.1007/s10689-012-9532-8

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

525-8

issue

3

eissn

1389-9600

issn

1573-7292

journal_volume

11

pub_type

杂志文章

相关文献

Familial Cancer文献大全
  • Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-015-9824-x

    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

  • Are prediction models for Lynch syndrome valid for probands with endometrial cancer?

    abstract：:Currently, three prediction models are used to predict a patient's risk of having Lynch syndrome (LS). These models have been validated in probands with colorectal cancer (CRC), but not in probands presenting with endometrial cancer (EMC). Thus, the aim was to determine the performance of these prediction models in wo...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9273-5

    authors： Backes FJ,Hampel H,Backes KA,Vaccarello L,Lewandowski G,Bell JA,Reid GC,Copeland LJ,Fowler JM,Cohn DE

    更新日期：2009-01-01 00:00:00

  • Gonadal mosaicism and familial adenomatous polyposis.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9169-1

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

    更新日期：2008-01-01 00:00:00

  • Chemoprevention in Lynch syndrome.

    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

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1007/s10689-013-9650-y

    authors： Burn J,Mathers JC,Bishop DT

    更新日期：2013-12-01 00:00:00

  • Primary care providers' willingness to recommend BRCA1/2 testing to adolescents.

    abstract：:Clinical practice guidelines discourage pediatric genetic testing for BRCA1/2 mutations due to a lack of timely medical benefit and psychosocial risk. Yet, some high risk families approach primary care providers (PCPs) about testing adolescents, and little is known about PCPs attitudes regarding these requests. We ass...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9243-y

    authors： O'Neill SC,Peshkin BN,Luta G,Abraham A,Walker LR,Tercyak KP

    更新日期：2010-03-01 00:00:00

  • Sarcoma in neurofibromatosis 2: case report and review of the literature.

    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

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-018-0084-4

    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

  • Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0039-1

    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

  • Roles and responsibilities of a medical geneticist.

    abstract：:Medical geneticists must generate a differential diagnosis, practice evidence-based medicine, and apply ethical, legal, and social issue (ELSI) principles in the clinical setting. Several clinical scenarios are presented which illustrate dilemmas in the cancer genetics setting. These include the differential diagnosis...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9148-6

    authors： Rubinstein WS

    更新日期：2008-01-01 00:00:00

  • An investigation of the factors effecting high-risk individuals' decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC).

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9910-8

    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

  • Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain.

    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

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10689-009-9313-1

    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

  • Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9916-2

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

    更新日期：2017-01-01 00:00:00

  • Uroepithelial and kidney carcinoma in Lynch syndrome.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9526-6

    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

  • Discovery of mutations in homologous recombination genes in African-American women with breast cancer.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0036-4

    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

  • Selective COX-2 inhibition affects fatty acids, but not COX mRNA expression in patients with FAP.

    abstract：:Familial adenomatous polyposis (FAP) provides a model for sporadic colorectal cancer development. Cyclooxygenase (COX) inhibition may ameliorate polyp development, but rofecoxib was withdrawn due to cardiovascular side effects. Although this selective COX-2 inhibitor, like diet, may alter the fatty acid and eicosanoid...

    journal_title：Familial cancer

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s10689-010-9365-2

    authors： Almendingen K,Larsen LN,Fausa O,Bratlie J,Høstmark AT,Aabakken L

    更新日期：2010-12-01 00:00:00

  • Low accuracy of self-reported family history of melanoma in high-risk patients.

    abstract：:Family history of melanoma is a major melanoma risk factor. However, self-reported family histories for some cancers, including melanoma, are commonly inaccurate. We used a unique database, the Utah Population Database (UPDB), as well as the Utah Cancer Registry to determine the accuracy of self-reported family histor...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-020-00187-0

    authors： Flint ND,Bishop MD,Smart TC,Strunck JL,Boucher KM,Grossman D,Secrest AM

    更新日期：2020-05-21 00:00:00

  • High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9560-4

    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

  • A functional varient in microRNA-146a is associated with risk of esophageal squamous cell carcinoma in Chinese Han.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-010-9370-5

    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

  • Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0031-9

    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

  • Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-018-0071-9

    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

  • Familial melanoma: a complex disorder leading to controversy on DNA testing.

    abstract：:The initial enthusiasm generated by the discovery of the first susceptibility gene found for melanoma has slightly dampened over recent years. For the majority of melanoma families the underlying gene defect is still not known, so the search for other melanoma genes is continuing. Also, the increased risk of melanoma ...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1023/a:1025758527675

    authors： de Snoo FA,Bergman W,Gruis NA

    更新日期：2003-01-01 00:00:00

  • Determining the familial risk distribution of colorectal cancer: a data mining approach.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-015-9860-6

    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

  • Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.

    abstract：:Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common forms of hereditary colorectal cancer. It is an autosomal dominant disorder resulting from germline mutations in DNA mismatch repair genes. In this study, we screened hMLH1 gene in a group of Iranian HNPCC patients using polymerase chain reac...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-011-9478-2

    authors： Shahmoradi S,Bidmeshkipour A,Salamian A,Emami MH,Kazemi Z,Salehi M

    更新日期：2012-03-01 00:00:00

  • Does and should breast cancer genetic counselling include lifestyle advice?

    abstract：:To optimally inform counselees about their and their relatives' risks, information about lifestyle risk factors, e.g. physical activity and alcohol consumption, might be discussed in breast cancer genetic counselling. This study explored whether lifestyle was discussed, on whose initiative, whether information and/or ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-013-9672-5

    authors： Albada A,Vernooij M,van Osch L,Pijpe A,van Dulmen S,Ausems MG

    更新日期：2014-03-01 00:00:00

  • Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0032-8

    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

  • Pain evaluation during gynaecological surveillance in women with Lynch syndrome.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9937-x

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

    更新日期：2017-04-01 00:00:00

  • The consequences of risk reducing salpingo-oophorectomy: the case for a coordinated approach to long-term follow up post surgical menopause.

    abstract：:Women with germline mutations in BRCA1 and BRCA2 genes have significantly increased lifetime risks of breast and ovarian cancer. To manage both the ovarian and breast cancer risks the current recommendation is undergo a risk reducing salpingo-oophorectomy (RRSO) prior to natural menopause. To date, studies have focuss...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9527-5

    authors： Pezaro C,James P,McKinley J,Shanahan M,Young MA,Mitchell G

    更新日期：2012-09-01 00:00:00

  • Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.

    abstract：:Lynch syndrome is an autosomal dominant cancer susceptibility syndrome characterized by the early development of microsatellite unstable colorectal, endometrial and other cancers. Lynch syndrome is caused by germline heterozygous loss-of-function sequence mutations within the mismatch repair genes MLH1, MSH2, MSH6 or ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9314-0

    authors： Kwok CT,Ward RL,Hawkins NJ,Hitchins MP

    更新日期：2010-09-01 00:00:00

  • Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome.

    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

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-020-00225-x

    authors： Vasen HFA

    更新日期：2021-01-19 00:00:00

  • Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?

    abstract：:Individuals who carry pathogenic mutations in DNA mismatch repair (MMR) genes have high risks of cancer, and small studies have suggested that these risks depend on the sex of the parent from whom the mutation was inherited. We have conducted the first large study of such a parent-of-origin effect (POE). Our study was...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-020-00167-4

    authors： Gemechu SD,van Vliet CM,Win AK,Figueiredo JC,Le Marchand L,Gallinger S,Newcomb PA,Hopper JL,Lindor NM,Jenkins MA,Dowty JG

    更新日期：2020-07-01 00:00:00

  • Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-008-9216-6

    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