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 history of melanoma in a large cohort of high-risk patients. Patient charts were reviewed and compared to records in the UPDB and the UCR to confirm personal and family history of melanoma in 1780 patients enrolled in a total body photography monitoring program. Self-reported family history of melanoma in first-degree relatives had an overall sensitivity of 71%, specificity of 79%, PPV of 31%, and NPV of 95%, with decreased accuracy (PPV) for second-degree relatives. A personal history of melanoma was the only factor significantly associated with accuracy in self-reported family history of melanoma. Patient age, sex, estimated nevus count, and number of prior personal melanomas were not significant predictors. Dermatologists should educate patients on the differences between melanomas, keratinocyte carcinomas, and pre-cancers. Confirming self-reported family history of melanoma may improve risk assessment for patients undergoing screening.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Flint ND,Bishop MD,Smart TC,Strunck JL,Boucher KM,Grossman D,Secrest AMdoi
10.1007/s10689-020-00187-0subject
Has Abstractpub_date
2020-05-21 00:00:00eissn
1389-9600issn
1573-7292pii
10.1007/s10689-020-00187-0pub_type
杂志文章相关文献
Familial Cancer文献大全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::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::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::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::The Dutch Hereditary Cancer Registry was established in 1985 with the support of the Ministry of Health (VWS). The aims of the registry are: (1) to promote the identification of families with hereditary cancer, (2) to encourage the participation in surveillance programs of individuals at high risk, (3) to ensure the c...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9897-1
更新日期:2016-07-01 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::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: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::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::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::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::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::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::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::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::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: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::Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare autosomal recessive predisposition to colorectal polyposis and other malignancies, often childhood-onset, that is caused by biallelic inheritance of mutations in the same mismatch repair gene. Here, we describe a patient with a clinical diagnosis of ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9902-8
更新日期:2016-10-01 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::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::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::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::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::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::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: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 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::Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-013-9623-1
更新日期:2013-12-01 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: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