听力与言语-语言病理学

行为科学

医学伦理学

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  • 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

  • Hereditary medullary thyroid carcinoma syndromes: experience from western India.

    abstract::The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Prim...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00219-9

    authors: Diwaker C,Sarathi V,Jaiswal SK,Shah R,Deshmukh A,Thomas AE,Prakash G,Malhotra G,Patil V,Lila A,Shah N,Bandgar T

    更新日期:2021-01-04 00:00:00

  • Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00198-x

    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

  • Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome.

    abstract::Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals age...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00173-6

    authors: Werner-Lin A,Young JL,Wilsnack C,Merrill SL,Groner V,Greene MH,Khincha PP

    更新日期:2020-07-01 00:00:00

  • Analysis of 3297 individuals suggests that the pathogenic germline 5'-UTR variant BRCA1 c.-107A > T is not common in south-east Germany.

    abstract::In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathog...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00175-4

    authors: Laner A,Benet-Pages A,Neitzel B,Holinski-Feder E

    更新日期:2020-07-01 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

  • Improving primary care identification of familial breast cancer risk using proactive invitation and decision support.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00188-z

    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

  • Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

    abstract::Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants i...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00191-4

    authors: Jelsig AM,Bertelsen B,Forss I,Karstensen JG

    更新日期:2020-06-06 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

  • Clear cell chondrosarcoma in Von Hippel-Lindau disease.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-019-00149-1

    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

  • Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.

    abstract::The identification of germline pathogenic/likely pathogenic (P/LP) variants in cancer predisposition genes can guide treatment and management decisions for the individual being tested and potentially at-risk relatives. Prior studies have raised concerns of racial/ethnic disparities in the detection rates of P/LP varia...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-019-00144-6

    authors: Ndugga-Kabuye MK,Issaka RB

    更新日期:2019-10-01 00:00:00

  • Hereditary diffuse gastric cancer: cancer risk and the personal cost of preventive surgery.

    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

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s10689-019-00133-9

    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

  • Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.

    abstract::Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-019-00121-z

    authors: Chiu C,Loth S,Kuhlen M,Ginzel S,Schaper J,Rosenbaum T,Pietsch T,Borkhardt A,Hoell JI

    更新日期:2019-07-01 00:00:00

  • Interest in, willingness-to-pay for and willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0101-7

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

    更新日期:2019-04-01 00:00:00

  • NTHL1-associate polyposis: first Australian case report.

    abstract::While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, poly...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0107-1

    authors: Groves A,Gleeson M,Spigelman AD

    更新日期:2019-04-01 00:00:00

  • Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

    abstract::Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an ext...

    journal_title:Familial cancer

    pub_type: 杂志文章,评审

    doi:10.1007/s10689-018-0111-5

    authors: Obermair F,Rammer M,Burghofer J,Malli T,Schossig A,Wimmer K,Kranewitter W,Mayrbaeurl B,Duba HC,Webersinke G

    更新日期:2019-04-01 00:00:00

  • Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-018-00116-2

    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

  • Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0104-4

    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

  • Ovarian small cell carcinoma in one of a pair of monozygous twins.

    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

    pub_type: 信件

    doi:10.1007/s10689-018-0108-0

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

    更新日期:2019-04-01 00:00:00

  • Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach.

    abstract::To support persons having a genetic predisposition to cancer and their partners during reproductive decision-making, an online decision aid was developed and evaluated. To maximize the impact of the support tool, this mixed methods study aims at developing the optimal implementation strategy for the decision aid. A qu...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-019-00119-7

    authors: Reumkens K,de Die-Smulders CEM,van Osch LADM

    更新日期:2019-04-01 00:00:00

  • The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice.

    abstract::Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice m...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0089-z

    authors: Menko FH,Ter Stege JA,van der Kolk LE,Jeanson KN,Schats W,Moha DA,Bleiker EMA

    更新日期:2019-01-01 00:00:00

  • Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0080-8

    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

  • Reminders of cancer risk and pain catastrophizing: relationships with cancer worry and perceived risk in women with a first-degree relative with breast cancer.

    abstract::First-degree relatives of women with breast cancer may experience increased worry or perceived risk when faced with reminders of their own cancer risk. Worry and risk reminders may include physical symptoms (e.g., persistent breast pain) and caregiving experiences. Women who engage in pain catastrophizing may be parti...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0082-6

    authors: Whitney CA,Dorfman CS,Shelby RA,Keefe FJ,Gandhi V,Somers TJ

    更新日期:2019-01-01 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

  • Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.

    abstract::Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0070-x

    authors: West AH,Blazer KR,Stoll J,Jones M,Weipert CM,Nielsen SM,Kupfer SS,Weitzel JN,Olopade OI

    更新日期:2018-10-01 00:00:00

  • SNP association study in PMS2-associated Lynch syndrome.

    abstract::Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-017-0061-3

    authors: Ten Broeke SW,Elsayed FA,Pagan L,Olderode-Berends MJW,Garcia EG,Gille HJP,van Hest LP,Letteboer TGW,van der Kolk LE,Mensenkamp AR,van Os TA,Spruijt L,Redeker BJW,Suerink M,Vos YJ,Wagner A,Wijnen JT,Steyerberg EW,Tops

    更新日期:2018-10-01 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

  • Association between miR-146a rs2910164 polymorphism and specific cancer susceptibility: an updated meta-analysis.

    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

    pub_type: 杂志文章,meta分析,评审

    doi:10.1007/s10689-017-0056-0

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

    更新日期:2018-07-01 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

  • 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

  • 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

  • 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

  • Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-017-9997-6

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

    更新日期:2018-01-01 00:00:00

  • Association of genetic variations in RTN4 3'-UTR with risk for clear cell renal cell carcinoma.

    abstract::Nogo proteins play an important role in the apoptosis of cells, especially in tumor cells. The present study was conducted to evaluate whether the TATC (rs71682980) and CAA (rs34917480) insertion/deletion polymorphisms of RTN4 3'-UTR are associated with clear cell renal cell carcinoma (ccRCC). These two polymorphisms ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-017-0005-y

    authors: Pu Y,Chen P,Zhou B,Zhang P,Wang Y,Song Y,Zhang L

    更新日期:2018-01-01 00:00:00

  • Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-017-0012-z

    authors: Silva-Smith R,Sussman DA

    更新日期:2018-01-01 00:00:00

  • A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-017-9982-0

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

    更新日期:2017-10-01 00:00:00

  • 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.

    abstract::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 mal...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9954-9

    authors: Marafie MJ,Dashti M,Al-Mulla F

    更新日期:2017-07-01 00:00:00

  • The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.

    abstract::Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rh...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9957-6

    authors: Witkowski L,Donini N,Byler-Dann R,Knost JA,Albrecht S,Berchuck A,McCluggage WG,Hasselblatt M,Foulkes WD

    更新日期:2017-07-01 00:00:00

  • Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.

    abstract::We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9952-y

    authors: Goehringer C,Sutter C,Kloor M,Gebert J,Slater EP,Keller M,Treiber I,Ganschow P,Kadmon M,Moog U

    更新日期:2017-04-01 00:00:00

  • Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.

    abstract::Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genet...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9939-8

    authors: Levin T,Mæhle L

    更新日期:2017-04-01 00:00:00

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