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::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
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::Since restorative proctocolectomy (RPC) with ileal-pouch anal anastomosis (IPAA) removes the entire diseased mucosa, it has become firmly established as the standard operative procedure of choice for familial adenomatous polyposis (FAP). Many technical controversies still persist, such as mesenteric lengthening techni...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-005-5672-4
更新日期:2006-01-01 00:00:00
abstract::Desmoid tumors occur with high frequency in individuals with Familial Adenomatous Polyposis (FAP). Because of this, individuals developing desmoid tumors may be referred for genetic risk assessment. Determining whether a person has a FAP-related desmoid tumor or a sporadic desmoid can be challenging. We sought to char...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-005-5959-5
更新日期:2006-01-01 00:00:00
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::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::A new BRCA1 locus product called BRCA1-IRIS has been identified recently. High-risk breast/ovarian families have not been screened for germ-line mutations at the specific BRCA1-IRIS coding sequence, as it was considered merely as part of BRCA1 intron 11. Here we report the first comprehensive screening of germ-line mu...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-005-1236-x
更新日期:2005-01-01 00:00:00
abstract:INTRODUCTION:Prospective collection of epidemiological, psychosocial and outcome data in large breast cancer family cohorts should provide less biased data than retrospective studies regarding penetrance of breast cancer and modifiers of genetic risk. METHODS:The Kathleen Cuningham Foundation for Research into Breast ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-004-6129-x
更新日期:2005-01-01 00:00:00
abstract::Li-Fraumeni syndrome (LFS) is a dominantly inherited cancer predisposition syndrome characterized by a wide spectrum of neoplasms occurring at young age. Germline mutations in the TP53 tumor suppressor gene have been identified in approximately 71 of LFS patients and 22 of Li-Fraumeni-like (LFL) patients. Mutations wi...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-004-1946-5
更新日期:2005-01-01 00:00:00
abstract::The hereditary forms of colorectal cancer have been given many names historically as the manifestations have been gradually understood. Lynch syndrome has had several names, most prominently 'Hereditary Nonpolyposis Colorectal Cancer' or HNPCC. Clarification of the genetic basis and full phenotypic expression of this ...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-004-4489-x
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Colorectal cancers resulting from defective DNA mismatch repair can occur in both hereditary non-polyposis colon cancer (HNPCC) and in the sporadic setting. They are characterised by a high level of microsatellite instability (MSI-H) and superficially resemble each other in that they are frequently located i...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1023/B:FAME.0000039861.30651.c8
更新日期:2004-01-01 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::Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-004-9552-0
更新日期:2004-01-01 00:00:00
abstract::Few mutations have been described in BRCA1 and BRCA2 in high-risk non-Ashkenazi Jews. In a Libyan family the 1100delAT BRCA1 mutation was detected and the 8765delAG BRCA2 mutation was previously described in two Jewish-Yemenite-families. In this study, the rate of these mutations in high-risk Jews of North African and...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1023/B:FAME.0000026837.32470.b4
更新日期:2004-01-01 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::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: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