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::Lynch syndrome is the most frequent hereditary colorectal cancer (CRC) syndrome, affecting approximately 1 in 300 in the Western population. It is caused by pathogenic variants in the mismatch repair (MMR) genes including MLH1, MSH2 (EPCAM), MSH6 and PMS2, and is associated with high risks of CRC, endometrial cancer a...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-020-00225-x
更新日期:2021-01-19 00:00:00
abstract::The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Prim...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00219-9
更新日期:2021-01-04 00:00:00
abstract::Germline variants in the APC and MUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in individuals of different ancestries. The aim of this study was to evaluate the prevalence of APC, monoallelic MUTYH and biallelic MUTYH germline variants in Ashkenazi Jewish...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00198-x
更新日期:2020-08-03 00:00:00
abstract::Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals age...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00173-6
更新日期:2020-07-01 00:00:00
abstract::In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathog...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00175-4
更新日期:2020-07-01 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::Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In f...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00188-z
更新日期:2020-06-11 00:00:00
abstract::Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants i...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00191-4
更新日期:2020-06-06 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::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::The identification of germline pathogenic/likely pathogenic (P/LP) variants in cancer predisposition genes can guide treatment and management decisions for the individual being tested and potentially at-risk relatives. Prior studies have raised concerns of racial/ethnic disparities in the detection rates of P/LP varia...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-019-00144-6
更新日期:2019-10-01 00:00:00
abstract::Germline CDH1 mutation carriers are at risk for early-onset diffuse gastric cancer (DGC) and female carriers have an additional risk of lobular breast cancer. The reported literature GC risk of 70% has led to the recommendation for germline mutation carriers to undergo prophylactic total gastrectomy (PTG). The objecti...
journal_title:Familial cancer
pub_type: 杂志文章,多中心研究
doi:10.1007/s10689-019-00133-9
更新日期:2019-10-01 00:00:00
abstract::Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-019-00121-z
更新日期:2019-07-01 00:00:00
abstract::Knowledge about interest in genetic testing and willingness-to-pay for a genetic test among men affected from prostate cancer (PCa) is limited. This study aimed to gain insight into men's attitudes in genetic testing for PCa. 4699 men with PCa from the German multicenter prospective database "Familial Prostate Cancer"...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0101-7
更新日期:2019-04-01 00:00:00
abstract::While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, poly...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0107-1
更新日期:2019-04-01 00:00:00
abstract::Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an ext...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-018-0111-5
更新日期:2019-04-01 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::The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would otherwise receive negative results from traditional testing of moderate- and high-risk genes. This study aimed to...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0104-4
更新日期:2019-04-01 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::To support persons having a genetic predisposition to cancer and their partners during reproductive decision-making, an online decision aid was developed and evaluated. To maximize the impact of the support tool, this mixed methods study aims at developing the optimal implementation strategy for the decision aid. A qu...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-019-00119-7
更新日期:2019-04-01 00:00:00
abstract::Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice m...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0089-z
更新日期:2019-01-01 00:00:00
abstract::New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primaril...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0080-8
更新日期:2019-01-01 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::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::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::Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-017-0061-3
更新日期:2018-10-01 00:00:00
abstract::Assessing adherence behavior among mutation carriers to cancer risk management guidelines is important for both service improvement and cost-effectiveness analyses, but such real-world data is often lacking. The present study aims to report adherence rates among mutation carriers in a recently established cancer genet...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-0071-9
更新日期:2018-10-01 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::Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and P...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-017-0039-1
更新日期:2018-07-01 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 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::Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficie...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-017-0031-9
更新日期:2018-04-01 00:00:00
abstract::Lynch syndrome (LS) is a genetic condition conferring an elevated risk of gastrointestinal, gynecologic and other malignancies, often before the age of 50. Current guidelines recommend prophylactic gynecologic surgery to manage inherited cancers for female mutation carriers. Data is lacking on women's quality of life ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-017-9997-6
更新日期:2018-01-01 00:00:00
abstract::Nogo proteins play an important role in the apoptosis of cells, especially in tumor cells. The present study was conducted to evaluate whether the TATC (rs71682980) and CAA (rs34917480) insertion/deletion polymorphisms of RTN4 3'-UTR are associated with clear cell renal cell carcinoma (ccRCC). These two polymorphisms ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-017-0005-y
更新日期:2018-01-01 00:00:00
abstract::Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first repor...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-017-0012-z
更新日期:2018-01-01 00:00:00
abstract::Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-017-9982-0
更新日期:2017-10-01 00:00:00
abstract::Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of mal...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9954-9
更新日期:2017-07-01 00:00:00
abstract::Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rh...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9957-6
更新日期:2017-07-01 00:00:00
abstract::We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9952-y
更新日期:2017-04-01 00:00:00
abstract::Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genet...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9939-8
更新日期:2017-04-01 00:00:00