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 following surgery. In this pilot study, we explored how women described their quality of life post-prophylactic gynecologic surgery and the factors that affected post-surgery experiences. A qualitative interview study was the chosen design. Ten female Lynch syndrome mutation carriers were interviewed by phone. Interviews were transcribed and analysed for themes relating to quality of life post-surgery using content analysis and constant comparison. Women largely reported doing well since their surgeries, though all described deleterious impacts on quality of life. Positive impacts of surgery included a reduction in cancer worry and an increase in healthy lifestyle behaviors, while negative impacts due to the sudden onset of menopause and impact on sexual function were common. Pre-surgical knowledge, drug and topical therapies, and post-surgical support all contributed to a positive quality of life. This small pilot study revealed increased endocrine symptoms and a negative impact on sexual health following prophylactic gynecological surgery. Women who were informed of potential symptoms pre-surgery coped better with surgical outcomes, as did women using some form of HRT. All women experienced reduced cancer worry post-surgery. Findings highlight areas for discussion in pre-operative settings (e.g., sexual health), as well as the need for better follow-up support post-surgery.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Etchegary H,Dicks E,Tamutis L,Dawson Ldoi
10.1007/s10689-017-9997-6subject
Has Abstractpub_date
2018-01-01 00:00:00pages
53-61issue
1eissn
1389-9600issn
1573-7292pii
10.1007/s10689-017-9997-6journal_volume
17pub_type
杂志文章相关文献
Familial Cancer文献大全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::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::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::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::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::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::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::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::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
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::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::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::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::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::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::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::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::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::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::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::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 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::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::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::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::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::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::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: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::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