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Guidelines for the clinical management of familial adenomatous polyposis (FAP)
Background: Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for <1% of all colorectal cancer (CRC) cases. The syndrome is characterised by theExpand
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Peutz–Jeghers syndrome: a systematic review and recommendations for management
Peutz–Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation.Expand
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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1,Expand
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High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
Background: In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. Methods: Mutation and phenotype analysis was used inExpand
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Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
BACKGROUND & AIMS MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has beenExpand
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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)
Somatic mutational mosaicism presents a challenge for both molecular and clinical diagnostics and may contribute to deviations from predicted genotype–phenotype correlations. During APC mutationExpand
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High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome
Germline mutations in the STK11 gene have been identified in 10–70% of patients with Peutz‐Jeghers syndrome (PJS), an autosomal‐dominant hamartomatous polyposis syndrome. A second locus was assumedExpand
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MUTYH‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
To determine the frequency, mutation spectrum and phenotype of the recently described autosomal recessive MUTYH‐associated polyposis (MAP), we performed a systematic search for MUTYH (MYH) mutationsExpand
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Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
BACKGROUND & AIMS Biallelic mutations in the base excision DNA repair gene MUTYH lead to MUTYH-associated polyposis (MAP) and predisposition to colorectal cancer (CRC). Functional studies haveExpand
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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although aExpand
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