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 evaluated before putting it into practice. Such evaluation is ideally performed with simulation as time and cost often preclude the evaluation by randomized trial. This study simulated and compared the outcomes of 4 screening strategies over a period of 12 years: (A) Annual screening, (B) biennial screening, (C) triennial screening, and (D) triennial screening for participants tested EBV negative and annual screening once the participants are tested EBV positive. Progression of the disease was divided into 4 phases and calculated by applying Markov chain model. Parameters of the transition matrix and probabilities were estimated using data from previous screening results of 1,072 family members of NPC patients. The early detection rates with strategies A, B, C and D are 88, 79, 71 and 87% respectively. The 5-year overall survival with screening is 10-12% higher than that without and is the highest with strategies A and D. Strategy D, however, requires only 64% screening tests compared with strategy A and has almost identical resultant disease stage distribution to strategy A. We concluded that strategy D offered the highest efficacy for NPC screening of family members of NPC patients among the four strategies studied.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Choi CW,Lee MC,Ng WT,Law LY,Yau TK,Lee AWdoi
10.1007/s10689-010-9397-7subject
Has Abstractpub_date
2011-03-01 00:00:00pages
133-9issue
1eissn
1389-9600issn
1573-7292journal_volume
10pub_type
杂志文章相关文献
Familial Cancer文献大全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
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s10689-005-2577-1
更新日期:2006-01-01 00:00:00
abstract::Cancer genetic counseling sessions traditionally encompass collecting medical and family history information, evaluating that information for the likelihood of a genetic predisposition for a hereditary cancer syndrome, conveying that information to the patient, offering genetic testing when appropriate, obtaining cons...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-011-9417-2
更新日期:2011-06-01 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
pub_type: 杂志文章
doi:10.1007/s10689-013-9675-2
更新日期:2014-03-01 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
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10689-016-9889-1
更新日期:2016-10-01 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
pub_type: 杂志文章
doi:10.1007/s10689-012-9526-6
更新日期:2012-09-01 00:00:00
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
更新日期:2003-01-01 00:00:00
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
更新日期:2020-07-01 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
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s10689-017-0056-0
更新日期:2018-07-01 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
pub_type: 杂志文章,评审
doi:10.1007/s10689-004-9538-y
更新日期:2004-01-01 00:00:00
abstract::Microsatellite instability (MSI) testing is useful for identifying patients with hereditary nonpolyposis colorectal cancer and detecting sporadic colorectal cancer that develops through replication error pathways. A pentaplex panel is recommended by the National Cancer Institute for MSI testing, but simplified mononuc...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9536-4
更新日期:2012-09-01 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
pub_type: 杂志文章
doi:10.1007/s10689-016-9916-2
更新日期:2017-01-01 00:00:00
abstract::Individuals with a family history of colorectal cancer (CRC), have a two-to-five-fold increased lifetime risk to develop CRC. Thus, they are particularly likely to benefit from adherence to medical recommendations for CRC prevention. Despite this increased risk, previous studies have shown an underutilization of colon...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-013-9627-x
更新日期:2013-12-01 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
pub_type: 杂志文章
doi:10.1007/s10689-010-9370-5
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
pub_type: 杂志文章
doi:10.1007/s10689-009-9290-4
更新日期:2010-06-01 00:00:00
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
更新日期:2008-01-01 00:00:00
abstract::Hereditary nonpolyposis colorectal cancer (HNPCC) is a multi-organ cancer syndrome associated with heritable mutations in DNA mismatch repair genes, particularly MLH1 (MutL Homologue 1) and MSH2 (MutS Homologue 2). We took advantage of the unique characteristics of the Finnish HNPCC families to assess genotype- phenot...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1023/a:1011564720772
更新日期:2001-01-01 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
pub_type: 杂志文章
doi:10.1007/s10689-011-9472-8
更新日期:2011-12-01 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
pub_type: 信件
doi:10.1007/s10689-018-0108-0
更新日期:2019-04-01 00:00:00
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
更新日期:2020-05-21 00:00:00
abstract::We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypoth...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9579-6
更新日期:2013-03-01 00:00:00
abstract::Hereditary medullary thyroid carcinoma (hereditary MTC) is a rare malignancy, accounting for 25-30% of all MTC. It occurs as part of multiple endocrine neoplasia type 2 (MEN 2). Autosomal dominant gain-of-function mutations in the RET proto-oncogene is the cause of the disease, in which the common mutations are codons...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-011-9501-7
更新日期:2012-06-01 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
pub_type: 杂志文章
doi:10.1007/s10689-009-9256-6
更新日期:2009-01-01 00:00:00
abstract::Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited cancer predisposition syndrome characterized by a combination of tumors including sarcoma, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. Germline mutations in the tumor suppressor gene TP53 are associated with LFS. We present a famil...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-006-9115-7
更新日期:2007-01-01 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
pub_type: 杂志文章
doi:10.1007/s10689-012-9596-5
更新日期:2013-09-01 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
pub_type: 杂志文章
doi:10.1007/s10689-010-9395-9
更新日期:2011-03-01 00:00:00
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
更新日期:2012-09-01 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
pub_type: 杂志文章
doi:10.1007/s10689-015-9860-6
更新日期:2016-04-01 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
pub_type: 杂志文章
doi:10.1007/s10689-015-9793-0
更新日期:2015-09-01 00:00:00
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
更新日期:2018-10-01 00:00:00
abstract::Prediction models for the identification of Lynch syndrome have been developed to quantify an individual's risk of carrying a mismatch repair gene mutation and help clinicians decide for whom further risk assessment and genetic testing is necessary. There are diverse clinical settings in which a healthcare provider ha...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-013-9632-0
更新日期:2013-06-01 00:00:00