Gardner syndrome in a man with an interstitial deletion of 5q

Herrera, Lemuel; Kakati, Surabhi; Gibas, Longina; Pietrzak, Eugenia; Sandberg, A. A.; Reynolds, James F.

doi:10.1002/ajmg.1320250309

Cited by 418 publications

(154 citation statements)

References 8 publications

(1 reference statement)

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“…Patients described by Bennett et al (1997) and GarciaMinaur et al (2005) can also clearly be classified as phenotype type 5q22-q31. Herrera et al (1986) and Hockey et al (1989) also described mentally retarded individuals with 5q deletions, multiple developmental abnormalities and familial adenomatous polyposis. De Michelena et al (1990) presented a patient with a reciprocal translocation (1;11)(p22;q21) and a large interstitial deletion 5q15-q31, who also showed multiple congenital abnormalities and developmental delay.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

et al. 2005

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We report on a 12-year-old female patient with mild dysmorphic signs, including bilateral epicanthal folds, low-set dysplastic ears, a short nose with anteverted nostrils, conically shaped fingers, generalised increase of subcutaneous fat, multiple fine venous teleangiectasia on her back, mild pectus carinatum, and a general muscular hypotonia. Cytogenetic analysis and fluorescence in situ hybridisation (FISH) studies using region-specific BAC and YAC clones indicated a de novo interstitial deletion of the long arm of chromosome 5, resulting in monosomy 5q21.1-q23.1. Molecular analysis of polymorphic markers helped to narrow down the breakpoints and demonstrated that the derivative chromosome 5 is of paternal origin. By using the same panel of polymorphic markers, a reinvestigation of a similar, already published, 5q deletion case [Raedle et al. (2001) Am J Gastroenterol 96:3016-3020] was performed, allowing a more detailed genotype-phenotype correlation. Phenotypic classification was also carried out. Several known genes, including APC and MCC, were found to map to the common deleted genomic segment. Genetic counselling based on the molecular analysis data was performed for the index family.

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Section: Discussionmentioning

confidence: 99%

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

et al. 2005

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“…retinoblastoma). [75,76] Aben et al attempted to identify constitutional cytogenetic abnormalities in thirty of the 95 multiple-case families from the large Dutch bladder cohort described previously. [25] The thirty families selected were those in which there were 2 or 3 affected individuals who were diagnosed at a relatively young age, and did not meet the criteria for known familial cancer syndromes.…”

Section: High-penetrance Genesmentioning

confidence: 99%

Familial and genetic risk of transitional cell carcinoma of the urinary tract

Mueller¹,

Caporaso²,

Greene³

2008

Urologic Oncology: Seminars and Original Investigations

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Environmental exposures, including tobacco smoke and occupational exposure to aromatic amines, have been implicated in bladder cancer etiology. However, the pathogenesis of urinary bladder transitional cell carcinoma remains incompletely defined. In epidemiologic studies, family history confers a two-fold increase in bladder cancer risk, but it is uncertain whether this represents evidence of a genetic and/or a shared environmental basis for familial aggregation. Polymorphisms in genes involved in the metabolism of environmental toxins (e.g., NAT2) clearly modify individual susceptibility to bladder cancer. A genetic predisposition has also been suggested by case reports describing multiple-case families, and the development of bladder cancer in association with several well-described Mendelian disorders (e.g., HNPCC, retinoblastoma). Here we update a previouslyreported family, report a new multiple-case kindred, critically review previously-reported bladder cancer families and the epidemiologic literature related to family history of transitional cell carcinoma of the urinary tract (TCCUT) as a risk factor, as well as provide a brief summary of genetic factors that have been implicated in TCCUT risk. We conclude that familial TCCUT is either very uncommon or significantly under-reported, perhaps on the assumption that this is an environmental rather than a genetic disorder. The interaction between multiple genetic and environmental factors has made it challenging to identify genetic components responsible for many common diseases; therefore, a proposed genome-wide association study (GWAS) for urinary bladder cancer may help to clarify the etiologic role of the candidate genetic pathways reviewed here, as well as characterize gene/environment interactions that contribute to TCCUT carcinogenesis.

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“…The predisposing gene APC of familial adematous polypsis disease is an important antioncogene, first discovered in the research on Gardner's syndrome in 1986, isolated and identified in 1991 (Herrera et al, 1986;Groden et al, 1991;Kinzler et al, 1991). The APC gene is located in the long arm of chromosome 5 (5q21) (Groden et al, 1991) and contains an 8538 bp openreading frame with 21 exons encoding a polypeptide of 2843 amino acids (Thliveris et al, 1996).…”

Section: Apc and Its Various Functionsmentioning

confidence: 99%

Cilia, adenomatous polyposis coli and associated diseases

Song

et al. 2011

Oncogene

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Cilium is a conservative cell organelle, found in many types of cell surfaces. Cilia are tail-like prominence protruding out of the cell surface, capable of locomotion and acting as the cell's signal transduction sensory organs with their complex structures and ingenious function. Studies have shown that ciliary pathological changes and defects are related to the development of many diseases, including renal cysts, infertility, organ reversal, obesity and so on. The inactivation and mutation of cilia-related proteins can cause tumors, such as neoplasms, intestinal cancer, myeloma, rhabdomyosarcoma and adenocarcinoma. Adenomatous polyposis coli (APC) is a kind of multifunctional protein encoded by the APC gene that participates in many vital activities of organisms. The mutation of APC can lead to familial adenomatous polyposis, and also has a role in the development of human tumors, such as gastric cancer, esophageal cancer and breast carcinoma. Recent studies indicate that the abnormal mutation of APC may lead to some diseases caused by abnormal growth of cilia. Herein, the development of studies on cilia, APC and associated diseases are summarized in brief.

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Gardner syndrome in a man with an interstitial deletion of 5q

Cited by 418 publications

References 8 publications

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

Familial and genetic risk of transitional cell carcinoma of the urinary tract

Cilia, adenomatous polyposis coli and associated diseases

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