Gastrointestinal Polyposis Syndromes

Brosens, Lodewijk A.A.; Hattem, W. Arnout van; Jansen, Marnix; Leng, Wendy W.J. de; Giardiello, Francis M.; Offerhaus, G. Johan A.

doi:10.2174/156652407779940404

Cited by 74 publications

(24 citation statements)

References 101 publications

(169 reference statements)

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“…[26] Depending on the location of the mutation in the APC gene, FAP can manifest either in a classic form (classic FAP) or in a less severe, attenuated form (attenuated FAP; AFAP). [3, 27] The prevalence of FAP is about 1:13,000.…”

Section: Familial Adenomatous Polyposismentioning

confidence: 99%

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Hereditary Colorectal Cancer

Brosens

Offerhaus

Giardiello

2015

Surgical Clinics of North America

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Colorectal cancer (CRC) is the third most common cancer and the third leading cause of cancer death in men and women in the United States. Each year more than 140,000 new patients are diagnosed. About 30% of patients with CRC report a family history of CRC. However, only 5% of colorectal cancers arise in the setting of a well-established Mendelian inherited disorder such as Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, juvenile polyposis, hereditary mixed polyposis, or Peutz-Jeghers. In addition, serrated polyposis is a clinically defined syndrome with multiple serrated polyps in the colorectum and an increased CRC risk for which the genetics are unknown. The majority of familial colorectal cancers arise as so called non-syndromic familial colorectal cancer and likely have a more complex multigenetic cause. This review focuses on genetic and clinical aspects of Lynch syndrome, familial adenomatous polyposis and MUTYH-associated polyposis.

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Section: Familial Adenomatous Polyposismentioning

confidence: 99%

“…[3, 28, 32] The combination of colorectal polyposis and a primary central nervous system malignancy (medulloblastoma) is called Crails syndrome.…”

Section: Familial Adenomatous Polyposismentioning

confidence: 99%

Hereditary Colorectal Cancer

Brosens

Offerhaus

Giardiello

2015

Surgical Clinics of North America

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“…The role of miRNAs in pathogenesis of cancer makes them important targets for therapeutic intervention. Gene therapies may be designed to treat colorectal cancers and to block the progression of precursor lesions by manipulating the tumour suppressor or promoter miRNAs [56]. Such manipulation may control the tumour growth rate and have potential as a new therapy for both early and advanced cancers.…”

Section: Therapeutic Potentialmentioning

confidence: 99%

“…Targeting such miRNAs may help to prevent the recurrence of disease in high-risk tumours and may control the growth of advanced metastatic tumours. Overexpression of miR-21 is associated with low sensitivity and poor response to chemotherapy [56]. Its inhibition may improve the response to chemotherapy.…”

Section: Therapeutic Potentialmentioning

confidence: 99%

Clinical applications of molecular profiling in colorectal cancer: Review of the literature

Kheirelseid¹,

Miller²,

Kerin³

2013

AJMB

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Despite the developments in the diagnostic and management strategies, a considerable number of colorectal cancer (CRC) patients present with disease recurrence after curative surgery. Moreover; there are no reliable indicators to determine the prognosis and response of CRC patients to therapy. By harnessing recent technological advances in molecular profiling techniques, it is anticipated that greater insight to the various combinations of genetic events or alternative pathways underlying carcinogenesis will be gained. By carrying out literature search, we were able to identify a comprehensive list of genes with high differential expression patterns in colorectal cancer that could serve as molecular markers to complement existing histopathological factors in diagnosis, follow up and therapeutic strategies for individualized care of patients.

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“…Although no clear consensus exists, most currently published surveillance regimens are similar [1,41,[57][58][59]. The premise of PJS surveillance is early and complete endoscopy with removal of all polyps over 1 cm in size.…”

Section: Surveillancementioning

confidence: 99%

Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature

et al. 2008

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Peutz-Jeghers syndrome is an uncommon genetic defect in the signal pathways of growth. The incidence has most recently been estimated to be in the range of 1 per 120,000 live births [1]. It is characterized by hamartomas throughout the gastrointestinal tract, mucocutaneous melanotic spots and increased predisposition to malignancy. The infrequent presentation of this syndrome in most practice combined with some less well-known diagnostic features may contribute to a misdiagnosis. Further, understanding of the genetic defect leading to the phenotypic syndrome and the future implications of this defect continue to evolve. Therefore we present a review in the setting of a case of misdiagnosed Peutz-Jeghers syndrome to portray illuminating features of the syndrome and review the literature.

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Gastrointestinal Polyposis Syndromes

Cited by 74 publications

References 101 publications

Hereditary Colorectal Cancer

Hereditary Colorectal Cancer

Clinical applications of molecular profiling in colorectal cancer: Review of the literature

Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature

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