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 bladder, and 10 kidney cancers. Urological tumor was the only tumor in 9 (30 %) patients, and metachronous other tumor occurred in 21 (70 %). The occurrence of uroepithelial cancers was significantly higher in MSH2 mutation carriers (6 %; 95 % CI, 2.7-11.0) than in MLH1 carriers (2 %; 95 % CI, 1.1-3.2) and MSH6 mutation carriers (0 %) (p = 0.014). The mean ages of patients at the time of diagnosis were: bladder cancer, 57 years; ureter cancer, 58 years; and kidney cancer, 64 years. Overall 5-year survival rates were 70 % (95 % CI, 0.32-0.89) in bladder cancer, 81 % (95 % CI, 0.45-0.95) in ureter cancer, and 75 % (95 % CI, 0.31-0.93) in kidney cancer. Cancer-specific 5-year survival rates were 70 % (95 % CI, 0.32-0.89) in bladder cancer, 91 % (95 % CI, 0.51-0.98) in ureter cancer, and 100 % in kidney cancer. In conclusion, early age of onset was observed in patients with uroepithelial tumors, but not in patients with kidney cancer. The frequency of uroepithelial tumors was significantly higher in MSH2 mutation carriers than in MLH1 carriers. Further studies with larger numbers of patients, however, are needed to evaluate the potential benefit of surveillance of urological tumors in LS.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Aarnio M,Säily M,Juhola M,Gylling A,Peltomäki P,Järvinen HJ,Mecklin JPdoi
10.1007/s10689-012-9526-6subject
Has Abstractpub_date
2012-09-01 00:00:00pages
395-401issue
3eissn
1389-9600issn
1573-7292journal_volume
11pub_type
杂志文章相关文献
Familial Cancer文献大全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：: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：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
pub_type： 杂志文章,多中心研究
doi：10.1023/a:1021174604905
更新日期：2001-01-01 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：: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
更新日期：2010-09-01 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
pub_type： 杂志文章,评审
doi：10.1007/s10689-004-4227-4
更新日期：2005-01-01 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
pub_type： 杂志文章
doi：10.1007/s10689-016-9937-x
更新日期：2017-04-01 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
pub_type： 杂志文章,评审
doi：10.1007/s10689-018-0084-4
更新日期：2019-01-01 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
pub_type： 杂志文章
doi：10.1007/s10689-017-0036-4
更新日期：2018-04-01 00:00:00
abstract：:The risks of cancers other than breast and ovarian amongst BRCA1 and BRCA2 mutation carriers are based on relatively few family based studies with the risk of specific cancers tested in population based samples of cancers from founder populations. We assessed risks of "other cancers" in 268 BRCA1 families and 222 BRCA...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-011-9506-2
更新日期：2012-06-01 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：: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：: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
更新日期：2020-01-01 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
pub_type： 杂志文章
doi：10.1007/s10689-010-9331-z
更新日期：2010-09-01 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：:Familial adenomatous polyposis (FAP) has always been first and foremost a surgical disease, whose treatment with colectomy has long been known to reduce risk of premature cancer death. The notion of reducing polyp burden and potentially delaying surgical intervention has spawned a host of "chemoprevention" trials. In ...
journal_title：Familial cancer
pub_type： 杂志文章,评审
doi：10.1007/s10689-016-9901-9
更新日期：2016-07-01 00:00:00
abstract：:Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify H...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-008-9230-8
更新日期：2009-01-01 00:00:00
abstract：:This multicenter study examined the adherence of high-risk women to screening recommendations for breast and ovarian cancer following consultation at a familial cancer clinic (FCC). Self-report questionnaires assessing recall of screening advice, tests undertaken, risk perception, anxiety (Impact of Events Scale) and ...
journal_title：Familial cancer
pub_type： 杂志文章,多中心研究
doi：10.1007/s10689-006-0006-8
更新日期：2006-01-01 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：:Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare autosomal recessive predisposition to colorectal polyposis and other malignancies, often childhood-onset, that is caused by biallelic inheritance of mutations in the same mismatch repair gene. Here, we describe a patient with a clinical diagnosis of ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-016-9902-8
更新日期：2016-10-01 00:00:00
abstract：:Pheochromocytoma is a tumor that originates from the adrenal cortex and sympathetic chains. Most pheochromocytomas are sporadic, whereas others occur as hereditary syndromes. Familial pheochromocytoma has been frequently found in association with various mutations in genes of the succinate dehydrogenase family. A 21-y...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-010-9359-0
更新日期：2010-12-01 00:00:00
abstract：:Colorectal cancer (CRC) risk associated with germline monoallelic MUTYH mutations remains controversial, although a slightly increased risk for this disease has been suggested. MUTYH and MSH6 proteins act in cooperation during the DNA repair process. Based on this interaction, it was hypothesized that the combination ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-009-9282-4
更新日期：2009-01-01 00:00:00
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
更新日期：2018-04-01 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
pub_type： 杂志文章
doi：10.1007/s10689-007-9169-1
更新日期：2008-01-01 00:00:00
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
更新日期：2019-01-01 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：: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
更新日期：2016-10-01 00:00:00
abstract：:Somerset has a relatively high incidence of cancer. The county is very rural with pockets of deprivation and sizeable areas of poor access to services. The Cancer Plan advocates early identification of cancer and identified the genetic revolution as having the potential to predict risk, and detect and diagnose cancer ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-007-9133-0
更新日期：2007-01-01 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
pub_type： 杂志文章
doi：10.1007/s10689-018-00116-2
更新日期：2019-04-01 00:00:00
abstract：:In the inherited syndromes, MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colorectal cancer (HNPCC), somatic mutations occur due to loss of the caretaker function that base-repair (BER) and mismatch repair (MMR) genes have, respectively. Recently, we identified a large branch from a MSH6 HNPCC family in...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-006-9103-y
更新日期：2007-01-01 00:00:00
