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::This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 f...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-011-9468-4
更新日期:2011-12-01 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::PTCH1 and SUFU are both regulators of the sonic hedgehog signalling pathway. Germline inactivating mutations in both genes are associated with multisystem phenotypes including medulloblastoma. Somatic inactivating mutations in PTCH1 and SUFU each occur in approximately 10% of medulloblastomas. Recently, SUFU mutations...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9411-0
更新日期:2011-06-01 00:00:00
abstract::Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1 and BRCA2 in high risk brea...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-011-9422-5
更新日期:2011-06-01 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::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::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 evalu...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9397-7
更新日期:2011-03-01 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::While a dominant inheritance of breast cancer (vertical inheritance) is well known, less is known about a possible recessive inheritance (horizontal inheritance). In a clinical series of 1676 breast cancer patient's family history was scored as vertical (grandmother-aunt-mother-sister-daughter) or horizontal (sister-s...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9355-4
更新日期:2010-12-01 00:00:00
abstract::Familial adenomatous polyposis (FAP) provides a model for sporadic colorectal cancer development. Cyclooxygenase (COX) inhibition may ameliorate polyp development, but rofecoxib was withdrawn due to cardiovascular side effects. Although this selective COX-2 inhibitor, like diet, may alter the fatty acid and eicosanoid...
journal_title:Familial cancer
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10689-010-9365-2
更新日期:2010-12-01 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:PURPOSE:The aim of the present descriptive study was to investigate the experience of sharing genetic information among cancer genetic counselees and their at-risk relatives. METHODS:In total, 147 cancer genetic counselees and 81 of their at-risk relatives answered to a study specific questionnaire and/or were intervi...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9364-3
更新日期:2010-12-01 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::Identifying a BRCA mutation among families with hereditary breast and ovarian cancer enables distinguishing those who may benefit from a specific medical management. This study aimed to evaluate the uptake of predictive testing among close relatives of a proband in Spanish families with a BRCA1 or BRCA2 mutation, and ...
journal_title:Familial cancer
pub_type: 杂志文章,多中心研究
doi:10.1007/s10689-009-9313-1
更新日期:2010-09-01 00:00:00
abstract::Lynch Syndrome (LS) is a cancer susceptibility syndrome caused mostly by mutations in the mismatch repair genes, hMLH1, hMSH2 and hMSH6. Mutation carriers are at risk of colorectal and endometrial cancer and, less frequently, cancer of the ovaries, stomach, small bowel, hepatobiliary tract, ureter, renal pelvis and br...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9334-9
更新日期:2010-09-01 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::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::Clinical practice guidelines discourage pediatric genetic testing for BRCA1/2 mutations due to a lack of timely medical benefit and psychosocial risk. Yet, some high risk families approach primary care providers (PCPs) about testing adolescents, and little is known about PCPs attitudes regarding these requests. We ass...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-009-9243-y
更新日期:2010-03-01 00:00:00
abstract::We assessed mismatch repair by immunohistochemistry (IHC) and microsatellite instability (MSI) analysis in an early onset endometrial cancer and a sister's colon cancer. We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implicating a PMS2 defect...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-009-9276-2
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Three mutations in BRCA1 (185delAG 5382InsC) and BRCA2 (6174delT) can be detected in a substantial proportion of Jewish Ashkenazi breast/ovarian cancer families. Family-specific pathogenic mutations in both genes can be detected in up to 5% of high risk Ashkenazim. The contribution of major gene rearrangemen...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-008-9216-6
更新日期:2009-01-01 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::Currently, three prediction models are used to predict a patient's risk of having Lynch syndrome (LS). These models have been validated in probands with colorectal cancer (CRC), but not in probands presenting with endometrial cancer (EMC). Thus, the aim was to determine the performance of these prediction models in wo...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-009-9273-5
更新日期:2009-01-01 00:00:00
abstract::Germline p53 mutations are associated with Li-Fraumeni syndrome (LFS) and other familial cancer phenotypes not fulfilling the definition for LFS. The majority of germline p53 mutations cluster in exons 5-8, corresponding to a DNA binding domain. We report the identification of two germline mutations and a somatic muta...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-009-9284-2
更新日期:2009-01-01 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::Pathological features and consequently, tumor response differ between BRCA1/2 carriers and sporadic breast cancer (BC) cases. It is expected that BRCA1/2 associated tumors will be more vulnerable to DNA damaging agents and irradiation due to their function in DNA repair. In addition, very high pathological complete re...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-008-9223-7
更新日期:2009-01-01 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::Genomic rearrangement occasionally affects the BRCA1/2 genes in Caucasian breast cancer patients. However, the incidence of BRCA1/2 genomic rearrangement in Asians, including the Korean population, has not been well established. Here, we investigated the contribution of BRCA1/2 genomic rearrangement to high-risk breas...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-009-9279-z
更新日期:2009-01-01 00:00:00
abstract::Inherited colorectal cancer predisposition involves a rather heterogeneous range of rare, yet relatively well-defined disorders, including Familial Adenomatous Polyposis (FAP), Hereditary Non-polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, Peutz-Jeghers syndrome, Juvenile Polyposis, and their respective variant...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9159-3
更新日期:2008-01-01 00:00:00
abstract::Women with a family history of breast cancer who are diagnosed with breast cancer are often counseled to undergo prophylactic mastectomy as part of their treatment for breast cancer. The majority of such individuals make these decisions in haste and without appropriate genetic counseling or testing. Most of them when ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9167-3
更新日期:2008-01-01 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::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:OBJECTIVE:To determine the value of histology in identifying Lynch syndrome among those patients with early onset of colorectal cancer (CRC). METHODS:Demographic, clinical and cancer history data from patients diagnosed with CRC before 60 years of age, and treated at our institution between 1997 and 2005, were collect...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-008-9186-8
更新日期:2008-01-01 00:00:00
abstract::Familial Adenomatous Polyposis (FAP) is a model for the adenoma-carcinoma sequence in several respects. One important area in which FAP serves as a model is chemoprevention. Early prevention trials mainly utilized micronutrients and were largely unsuccessful in preventing or causing regression of adenomas. A new era w...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9158-4
更新日期:2008-01-01 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::Genetic services are receiving increasing numbers of referrals of people with a family history of cancer for assessment of genetic risk, and therefore need to find cost-effective ways of meeting this rising demand. General Practitioners (GPs) are known to be reluctant to take on genetic consultations. Current evidence...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9128-x
更新日期:2007-01-01 00:00:00
abstract:AIM:This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. MATERIAL AND METHODS:This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival par...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-006-9101-0
更新日期:2007-01-01 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::Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas). These lesions are typically associated with tumors that belong to the spectrum of hereditary nonpol...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-006-9105-9
更新日期:2007-01-01 00:00:00
abstract::Adult weight gain and central obesity can increase breast cancer risk. We determined the prevalence of adult weight gain and central obesity amongst women with a family history (FH) as compared to women with a population risk to determine whether adiposity could contribute to their increased risk. Adult weight gain, w...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9122-3
更新日期:2007-01-01 00:00:00
abstract::BRCA1 mutations predispose to early-onset breast cancer. We previously reported an association between absence of the common IGF1 19 CA-repeat allele (IGF1-19/-19) and being a BRCA1 mutation carrier in young women from breast cancer high-risk families. Others have reported a four-fold risk of premenopausal breast canc...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-007-9141-0
更新日期:2007-01-01 00:00:00