Ophthalmic and Genetic Screening in Pedigrees With Familial Adenomatous Polyposis

Ruhswurm, Irene; Zehetmayer, Martin; Dejaco, Clemens; Wolf, Brigitte; Karner‐Hanusch, Judith

doi:10.1016/s0002-9394(98)00005-1

Cited by 31 publications

(27 citation statements)

References 19 publications

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“…Gardner's syndrome is inherited as an autosomal dominant trait characterized by a pleiotropic single APC gene and represents only one of several groups of disorders known collectively as hereditary premalignant adenomatous colonic polyposis [21]. The APC gene is the same gene that is mutated in FAP and Gardner syndrome is considered to be a clinical variant of FAP [22] with the presence of FAP being a marker for Gardner syndrome [23]. The incidence has been estimated at 1 per 14,000 people [14].…”

Section: Discussionmentioning

confidence: 99%

Gardner syndrome

Gupta

Goyal

Tandon

et al. 2011

J. Stomat. Occ. Med.

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Gardner syndrome is a hereditary autosomal dominant disorder with complete penetrance and variable expression. The Gardner syndrome is characterized by polyposis coli and multiple hard and soft tissue tumors. A case of a 34-year-old female is presented who complained of swellings on the lower third of the face on the right side. The patient presented with the original triad of Gardner syndrome, i.e. multiple osteomas, intestinal polyps and sebaceous cysts. On the panoramic X-ray, characteristic radiopaque lesions (exostoses and enostoses) of the right body of the mandible were seen and small osteomas were also seen on radiographs of the long bones of the forearm.

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Section: Discussionmentioning

confidence: 99%

Gardner syndrome

Gupta

Goyal

Tandon

et al. 2011

J. Stomat. Occ. Med.

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“…Where there is a positive family history of FAP in a child with HB, ophthalmological assessment in a search for congenital hypertrophy of retinal pigment epithelium (CHRPE) can be useful, particularly in the 20% of families in which no germline mutations can be identified (9). If CHRPE is present, it has almost 100% positive predictive value for APC mutations.…”

Section: Discussionmentioning

confidence: 99%

Germline APC Mutations Are Not Commonly Seen in Children With Sporadic Hepatoblastoma

Harvey

Clark

Hyer

et al. 2008

J. pediatr. gastroenterol. nutr.

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Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at a median age of 22 months (range 6-119 months). No germline APC mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.

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“…Currently, only certain individuals presenting with typical extra-colonic manifestations, including congenital hypertrophy of the retinal pigment epithelium (CHRPE), are recognized as high-risk (7,8,11,12). In 1991, Groden et al (13) observed that FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene, and subsequent research confirmed that FAP is an autosomal dominant disease (14)(15)(16)(17). Members of families with a frequent history of FAP may be at high risk of developing the disease (15).…”

Section: Introductionmentioning

confidence: 99%

“…In 1991, Groden et al (13) observed that FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene, and subsequent research confirmed that FAP is an autosomal dominant disease (14)(15)(16)(17). Members of families with a frequent history of FAP may be at high risk of developing the disease (15).…”

Section: Introductionmentioning

confidence: 99%

“…FAP is divided into three subtypes, including classic FAP (CFAP), attenuated FAP (AFAP) and mutY DNA glycosylase (MUTYH)-associated polyposis (MAP), each with unique genetics, clinical features and prognoses (15,16). Germline mutations and large rearrangements in the APC gene are the primary causes of CFAP and AFAP (16)(17)(18)(19), while mutations in the MUTYH gene cause MAP (20)(21)(22)(23).…”

Section: Introductionmentioning

confidence: 99%

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Familial adenomatous polyposis in China

Yang

Liu

et al. 2016

Oncology Letters

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Abstract. Familial adenomatous polyposis (FAP) is an autosomal dominant disease with a poor prognosis, and has been studied by clinicians and geneticists in China for the past three decades. It is estimated that FAP has an incidence of between 1 in 8,000 and 1 in 10,000 individuals, and accounts for 0.94% of colorectal cancer cases in China. Recent advances in the understanding of FAP suggest that the genotype of the patient may allow for early diagnosis and surveillance, and guide surgical and chemopreventive management. However, the genetic mechanisms of FAP vary between different countries. FAP in China has its own characteristics, and this may be due to ethnic and geographical genetic variation. In the present review the clinical manifestations and genetics of FAP in China are discussed, as well as the surgical strategies, chemotherapeutics and traditional Chinese medicines used in its treatment. Increased insight into the genetic and clinical features of FAP in the Chinese population may aid in the prevention and management of the disorder.

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Ophthalmic and Genetic Screening in Pedigrees With Familial Adenomatous Polyposis

Cited by 31 publications

References 19 publications

Gardner syndrome

Gardner syndrome

Germline APC Mutations Are Not Commonly Seen in Children With Sporadic Hepatoblastoma

Familial adenomatous polyposis in China

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