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 to undergo gastrectomy, or in whom the genetic testing result is unknown or ambiguous, are offered surveillance. Little is known about the factors that influence decisions to undergo or decline PTG, making it difficult to provide optimal support for those facing these decisions. Qualitative interviews were carried out with 35 high-risk individuals from the Familial Gastric Cancer Study in the UK. Twenty-seven had previously undergone PTG and eight had been identified as carrying a pathogenic CDH1 mutation but had declined surgery at the time of interview. The interviews explored the experience of decision-making and factors influencing risk-management decisions. The data suggest that decisions to proceed with PTG are influenced by a number of potentially competing factors: objective risk confirmation by genetic testing and/or receiving a positive biopsy; perceived familial cancer burden and associated risk perceptions; perceptions of post-surgical life; an increasing inability to tolerate endoscopic procedures; a concern that surveillance could miss a cancer developing and individual's life stage. These findings have implications for advising this patient group.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Hallowell N,Badger S,Richardson S,Caldas C,Hardwick RH,Fitzgerald RC,Lawton Jdoi
10.1007/s10689-016-9910-8subject
Has Abstractpub_date
2016-10-01 00:00:00pages
665-76issue
4eissn
1389-9600issn
1573-7292pii
10.1007/s10689-016-9910-8journal_volume
15pub_type
杂志文章相关文献
Familial Cancer文献大全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::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::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::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::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::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::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::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::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::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::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: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::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
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::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::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::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::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::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::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::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::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 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::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::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::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::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::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: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::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