Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature

Nieuwenhuis, Marry H.; Vasen, Hans F. A.

doi:10.1016/j.critrevonc.2006.07.004

Cited by 339 publications

(309 citation statements)

References 49 publications

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“…They are present in 46% to 93% of FAP patients, an incidence 4 to 20 times higher than in control groups (3% to 16%). (38)(39)(40) In keeping with previous studies, (2) osteomas were located predominantly in the upper and/or lower mandible in our patients, and their presence was positively correlated with the presence of teeth anomalies. (41,42) Patients with scintigraphic evidence of osteoma(s) were, on average, younger than those without osteomas, albeit nonstatistically significantly.…”

Section: Discussionsupporting

confidence: 90%

“…(1) The adenomas inevitably progress to colorectal carcinoma (CRC) at a mean age of 40 to 50 years if colectomy is not performed. (2) FAP is also associated with an increased risk of extracolonic malignancies (eg, duodenal, pancreatic, and thyroid cancer) and other pathologic conditions, such as osteomas, dental anomalies, epidermoid cysts, lipomas, desmoid tumors, and congenital hypertrophy of the retinal pigment epithelium (CHRPE). (3) Whereas the majority of FAP patients have a family history of the disease, up to 30% of cases are due to de novo mutations in the APC gene.…”

Section: Introductionmentioning

confidence: 99%

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APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis

Miclea

Karperien

Langers

et al. 2010

Journal of Bone and Mineral Research

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The canonical Wnt pathway plays a key regulatory role in osteoblastogenesis and bone mass acquisition through its main effector, bcatenin. Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of b-catenin turnover, and heterozygous germline mutations in the APC gene cause familial adenomatous polyposis (FAP). Whether APC mutations affect bone mass has not been previously investigated. We conducted a cross-sectional study evaluating skeletal status in FAP patients with a documented APC mutation. Twenty-two FAP patients with a mean age of 42 years (54.5% women) were included in this study. Mean bone mineral density (BMD) Z-scores were significantly increased above normal at all measured sites: lumbar spine (p < .01), total hip (p < .01), femoral neck (p < .05), and trochanter (p < .01). Z-scores were þ1 or greater in 14 patients (63.6%) and þ2 or greater in 5 (22.7%). Mean values of bone turnover markers were within normal ranges. There was a significant positive correlation between procollagen type I N-terminal propeptide (P1NP) and b-crosslaps (b-CTX) (r ¼ 0.70, p < .001) and between these markers and sclerostin and BMD measurements. We demonstrate that FAP patients display a significantly higher than normal mean BMD compared with age-and sex-matched healthy controls in the presence of a balanced bone turnover. Our data suggest a state of ''controlled'' activation of the Wnt signaling pathway in heterozygous carriers of APC mutations, most likely owing to upregulation of cytoplasmic b-catenin levels. ß

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis

Miclea

Karperien

Langers

et al. 2010

Journal of Bone and Mineral Research

View full text Add to dashboard Cite

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“…Attenuated FAP is characterized by 30-100 adenomatous polyps. Individuals with FAP are also at increased risk for duodenal (4-12%), pancreatic (~2%), and papillary thyroid (cribriform morular variant) 33,34 (1-2%) 29,30 cancers, as well as hepatoblastoma by age 5 (1-2%) 35,36 and medulloblastoma (<1%). 32 Extracolonic manifestations can include congenital hypertrophy of the retinal pigmented epithelium, osteomas, dental abnormalities, benign cutaneous lesions such as epidermoid cysts and fibromas, and desmoid tumors.…”

Section: Familial Adenomatous Polyposis and Attenuated Familial Adenomentioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

467

326

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Cancer genetic consultation services include the evaluation of patients' personal and family history for concerning features of hereditary cancer predisposition syndromes, development of a differential diagnosis for one or more possible hereditary cancer syndromes, genetic testing if indicated and available, recommendations for management, cancer surveillance and prevention, and information regarding genetic counseling and genetic testing for at-risk relatives. This counseling is informed by the genetic Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peerreviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their firstdegree relatives meet any of these referral criteria.

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“…However, this is the most aggressive and severe genetic variant of CRC for which active screening is of utmost importance. 38,39 Fortunately, most FAP patients are aware of their predisposition from a young age due to a family history resulting in an acceptable surveillance compliance. 40 However, when clinicians suspect individuals may have FAP without a clear family history, they are advised to (continue to) stress the importance of active screening once genetic predisposition is confirmed.…”

Section: 2mentioning

confidence: 99%

Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment

et al. 2015

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This study explored individuals' preferences for genetic testing for colorectal cancer (CRC) in a screening situation and their willingness to participate in genetic testing for Lynch syndrome, familial adenomatous polyposis (FAP), and familial colorectal cancer (FCC). For that purpose, 532 respondents aged 55-65 years completed a Discrete Choice Experiment. Using panel latent class models, the preferences for two screening situation characteristics (the probability of being genetically predisposed and the probability of developing CRC) and screening test characteristics (the frequency of preventive colonoscopies and CRC survival) were estimated. Based on these preferences, respondents' willingness to participate in the three screening initiatives was estimated. Lower-educated respondents and respondents who express serious anxiety and worries found colonoscopy frequency and the probability of developing CRC relatively more important and survival relatively less important compared with highereducated respondents and respondents who express no anxiety and worries. These differences in preferences resulted in opposite preferences for participation in FCC and FAP screening. In conclusion, the general population is willing to participate in genetic screening for CRC. If individuals are suspected of genetic or familial CRC, they should at least be informed about their increased risk of being genetically predisposed and about the importance of participating in all preventive follow-up colonoscopies in order to maximize survival.

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Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature

Cited by 339 publications

References 49 publications

APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis

APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment

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