解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
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::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::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::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::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::The implementation of regular colonoscopy programs has significantly decreased the mortality associated with colorectal cancer (CRC) in Lynch syndrome patients. However, interval CRCs in Lynch syndrome that remain undetected by colonoscopy still represent a substantial problem in the management of the syndrome. One po...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9899-z
更新日期:2016-10-01 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::The Dutch Hereditary Cancer Registry was established in 1985 with the support of the Ministry of Health (VWS). The aims of the registry are: (1) to promote the identification of families with hereditary cancer, (2) to encourage the participation in surveillance programs of individuals at high risk, (3) to ensure the c...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9897-1
更新日期:2016-07-01 00:00:00
abstract::Dominantly inherited syndromes of colorectal cancer predisposition are characterized by multifocal neoplasia with an early age of onset. The risk of colorectal cancer is high in affected patients and care of the patients is based on the aims of cancer prevention and cancer cure. At the same time, quality of life shoul...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9886-4
更新日期:2016-07-01 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::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
更新日期:2015-12-01 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::Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family hist...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-014-9752-1
更新日期:2015-03-01 00:00:00
abstract::The myeloproliferative neoplasms (MPN) are clonal, hematological malignancies that include polycythemia vera, essential thrombocythemia and primary myelofibrosis. While most cases of MPN are sporadic in nature, a familial pattern of inheritance is well recognised. The phenotype and status of the commonly acquired JAK2...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-014-9743-2
更新日期:2014-12-01 00:00:00
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
更新日期:2014-03-01 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::Germline mutations in the BRCA1 tumor suppressor gene predispose affected individuals to breast cancer; however, incomplete cancer penetrance and the presence of phenocopies in BRCA1 families also indicate genetic and environmental modifiers of breast cancer risk. In this study, we have tested the single nucleotide po...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-013-9647-6
更新日期:2013-12-01 00:00:00
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
更新日期:2013-12-01 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::ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare disorder characterized by bilateral macronodular hyperplasia of the adrenal glands and increased cortisol production with subclinical or overt Cushing's syndrome. Although the family clustering of AIMAH is infrequent, we have tried our best to find su...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-013-9642-y
更新日期:2013-12-01 00:00:00
abstract::Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-013-9623-1
更新日期:2013-12-01 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
pub_type: 杂志文章
doi:10.1007/s10689-012-9587-6
更新日期:2013-09-01 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::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
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10689-013-9609-z
更新日期:2013-09-01 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
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
pub_type: 历史文章,杂志文章
doi:10.1007/s10689-013-9616-0
更新日期:2013-06-01 00:00:00
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
pub_type: 杂志文章,评审
doi:10.1007/s10689-012-9570-2
更新日期:2013-03-01 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::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
更新日期:2012-12-01 00:00:00
abstract::Founder mutations with a large impact in distinct populations have been described in Lynch syndrome. In Denmark, the MLH1 c.1667+2_1667_+8TAAATCAdelinsATTT mutation accounts for 25 % of the MLH1 mutant families. We used the national Danish hereditary nonpolyposis colorectal cancer register to estimate the cumulative l...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9552-4
更新日期:2012-12-01 00:00:00
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 famil...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9532-8
更新日期:2012-09-01 00:00:00
abstract::MUTYH is associated with colorectal cancer (CRC) risk. We studied the frequency of MUTYH and risk of CRC in Arabs, North African and European Jews. Participants were all 593 Sephardi Moroccan Jews (232 cases, 361 controls) and all 631 Arabs (327 cases, 304 controls) recruited into a population-based study of colorecta...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9516-8
更新日期:2012-09-01 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::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::Description of the various modalities of breast and ovarian cancer risk management, patient choices and their outcome in a single-center cohort of 158 unaffected women carrying a BRCA1 or BRCA2 germline mutation. Between 1998 and 2009, 158 unaffected women carrying a BRCA1 or BRCA2 gene mutation were prospectively fol...
journal_title:Familial cancer
pub_type: 临床试验,杂志文章
doi:10.1007/s10689-012-9539-1
更新日期:2012-09-01 00:00:00
abstract::Infantile and childhood hepatoblastoma (HB) occurs more frequently in children with hereditary predisposition to familial adenomatous polyposis (FAP) than in the general population. The occurrence of HB in two infant siblings is reported. The sister died of the disease. The brother survived the HB and was later diagno...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9538-2
更新日期:2012-09-01 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::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::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::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
更新日期:2012-03-01 00:00:00