Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014

Aretz, Stefan; Vasen, Hans F. A.; Olschwang, Sylviane

doi:10.1038/ejhg.2014.193

Cited by 9 publications

(7 citation statements)

References 20 publications

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“…The genetic tests were selected on the basis of their clinical and personal utility. APC and BRCA1/2 tests are strongly predictive with well-defined utility, and their results are widely utilized to lead clinical and personal decision-making [10,15,16]. By contrast, no significant clinical and personal benefits result from weakly predictive genetic tests such as that for Factor V Leiden and FIIG20210A [12,17,18].…”

Section: Discussionmentioning

confidence: 99%

“…In this study, we evaluated whether genetic tests with evidence of clinical and personal utility are associated with higher satisfaction and a more positive perception of the care experience than genetic tests with undefined utility. As genetic tests with well-defined utility, we included testing for dominant germline variants in the adenomatous polyposis coli (APC) gene, which have almost 100% penetrance and cause about 1% of all colorectal cancers [10], and testing for dominant variants in one of the breast/ ovarian cancer susceptibility genes (BRCA1, BRCA2), which have 40-70% penetrance and are responsible for 2-7% of breast cancers and 10-15% of ovarian cancers [11]. Genetic testing for two variants (Factor V Leiden and/or FIIG20210A) of inherited thrombophilia, which is associated with low-risk susceptibility to venous thromboembolism (VTE), was selected as a genetic test with undefined utility [12].…”

Section: Introductionmentioning

confidence: 99%

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Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

et al. 2018

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We evaluated whether genetic tests with evidence of clinical and personal utility (i.e. APC and BRCA1/2 tests) are associated with higher satisfaction and a more positive perception of care experience than those with undefined utility (i.e. tests for thrombophilia). A cross-sectional survey was performed through telephone interviews to patients tested for deleterious variants in APC or BRCA1/2 genes, or for inherited thrombophilia (FV Leiden and/or FIIG20210A) during a 5-year period (2008-2012). Three aspects of patient experience were assessed: effective communication through pre- and post-test genetic counselling; collaboration between caregivers on the management of patient care; and impact of genetic testing on quality of life. Overall 237 patients had telephone interviews. Multivariate logistic regression analyses showed that patients tested for APC or BRCA1/2 variants were more likely to be satisfied with both pre- and post-test counselling than those tested for inherited thrombophilia (APC vs. thrombophilia, p = 0.039 and 0.005; BRCA1/2 vs. thrombophilia, p = 0.030 and <0.001). Patients tested for APC were more likely to report an improvement in quality of life than those for thrombophilia (OR = 2.97, 95%CI 1.14, 7.72; p = 0.025). A positive association was observed between patients who underwent BRCA1/2 testing, and self-perceived improvement in quality of life (OR = 1.41, 95%CI 0.74, 2.69; p = 0.294). Tests of undefined clinical and personal utility are associated with a lower degree of patient satisfaction with genetic counselling and no clear opinions on changes in quality of life compared with those with well-defined utility.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

et al. 2018

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“…8 The c.3927_3931delAAAGA variant identified in the proband is the most commonly reported pathogenic variant, found in 11% of cases of APC-related FAP. 9 While a highrisk variant, this genotype demonstrates a broad phenotypic variation between and within families. A case series of 74 affected individuals from 11 unrelated families with this identical deletion highlights the variability of phenotypic expression of FAP-related polyposis and extracolonic manifestations.…”

Section: Discussionmentioning

confidence: 99%

An Atypical Case of Very Early-onset Familial Adenomatous Polyposis Associated With Focal Cortical Dysplasia

Henry¹,

Rajasekaran²,

Evans³

et al. 2021

Journal of Pediatric Hematology/Oncology

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We describe a female toddler with rectal bleeding from extensive colonic polyposis, and diagnosed with familial adenomatous polyposis. She has epilepsy from infancy attributed to focal cortical dysplasia. Hepatoblastoma was diagnosed at 13 months of age. Germline testing detected a pathogenic APC (adenomatous polyposis coli gene) variant. We discuss the anecdotal management of this case, including the clinical utility of genetic confirmation. We review the genotype-phenotype correlation of the APC mutational spectrum, and the existing evidence supporting the hypothesis that cortical dysplasia is part of the APC-related spectrum.

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“…Крупные проспективные исследования эффективности существующих программ раннего выявления продемонстрировали преимущества регулярного скрининга людей из групп риска [13,14].…”

Section: диагностика и скрининг наследственных опухолевых синдромовunclassified

Hereditary cancer syndromes: a modern paradigm

Баранова

Bodunova

Воронцова

et al. 2020

Probl Endokrinol (Mosk)

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About 5–10% of malignant neoplasms (MN) are hereditary. Carriers of mutations associated with hereditary tumor syndromes (HTS) are at high risk of developing tumors in childhood and young age and synchronous and metachronous multiple tumors. At the same time, this group of diseases remains mainly an oncological problem, and clinical decisions are made only when MNs are detected in carriers of pathogenic mutations.Individual recommendations for cancer screening, treatment, and prevention should be developed for carriers of mutations associated with HTS to prevent an adverse outcome of the disease. It is essential to identify patients at risk by doctors of all specialties for further referral to medical and genetic counseling with molecular genetic testing (in case of indications). The problems of standardization of enrollment criteria for genetic tests, further tactics of prevention, screening, and treatment of many hereditary oncological diseases remain unsolved.This review was created to inform doctors of various specialties, including endocrinologists, about the HTS. This allows them to get acquainted with main clinical features of specific syndromes, helps to understand the difference between hereditary and non-hereditary cancer, recognize signs of hereditary cancer, and introduce the indications for genetic examination and genetic counseling of the patient. Also, significant differences between international and domestic recommendations on screening measures, diagnosis, and treatment of HTS underline the need to review the existing and develop new algorithms for medical support of patients with HTS.

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Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014

Cited by 9 publications

References 20 publications

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

An Atypical Case of Very Early-onset Familial Adenomatous Polyposis Associated With Focal Cortical Dysplasia

Hereditary cancer syndromes: a modern paradigm

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