Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status

Heinimann, Karl; Müllhaupt, Beat; Weber, Walter; Attenhofer, Michèle; Scott, Rodney J.; Fried, Michael; Martinoli, S; Müller, Hj.; Dobbie, Zuzana

doi:10.1136/gut.43.5.675

Cited by 69 publications

(41 citation statements)

References 38 publications

(13 reference statements)

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“…We nevertheless failed to identify a causative mutation in 5 putative FAP probands (S13, S42, S74, S76, S85 and S86), as shown in Table 2. Our results support the view that FAP patients who are negative for an APC mutation appear to have a milder phenotype (Heinimann et al, 1998). Among patients in whom the mutation could not be detected are one individual with classical phenotype (S86) and 5 (S13, S42, S74, S76 and S85) with attenuated phenotype.…”

Section: Discussionsupporting

confidence: 87%

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Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

Hutter

Rey-Berthod

Chappuis³

et al. 2001

Hum. Mutat.

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Germ-line mutations in the 5' half of the Adenomatous Polyposis Coli (APC) gene are found in about 80% of the patients affected with familial adenomatous polyposis (FAP). The vast majority of these are nonsense or frameshift mutations which result in the loss of the carboxyl terminus of the APC protein. Using an in vivo assay in yeast, we have identified pathogenic germ-line mutations in 26 of 32 (81%) unrelated Swiss families affected with FAP. Nine mutations were novel and eight families were shown to harbor two recurrent mutations. Correlations were attempted between the location of APC germ-line mutations and clinical manifestations of the disease.

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Section: Discussionsupporting

confidence: 87%

“…Alternatively, the hypothesis of one additional gene involved in the disorder has recently been substantiated (Tomlinson et al, 1996) . As mentioned, FAP patients who are negative for an APC mutation appear to have a milder phenotype, further suggesting a contribution of at least one additional gene to the syndrome (Heinimann et al, 1998) .…”

Section: Discussionmentioning

confidence: 88%

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

Hutter

Rey-Berthod

Chappuis³

et al. 2001

Hum. Mutat.

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“…4,5,7,16,17 In our sample, an overall mutation detection rate of 49% was found. The distribution of mutations is consistent with published data (Figure 1).…”

Section: Discussionmentioning

confidence: 89%

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

et al. 2003

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A predominance of de novo mutations in the paternal germ line has been reported for several disorders; however, in familial adenomatous polyposis (FAP), the parental origin of APC mutations has been scarcely analysed so far. Among 563 unrelated FAP families with known family history, we identified 58 patients with a suspected de novo mutation in the APC gene. A germline mutation was detected in 52 of them; in 38 patients, the mutation could be excluded in both parents. The five base pair deletion at codon 1309 (c.3927_3931delAAAGA) was over-represented in the group of patients with suspected de novo mutations (17/58 ¼ 29%), when compared to the group of familial cases (26/505 ¼ 5%); thus, the high frequency of this mutation is not due to a founder effect but rather due to de novo mutation events. Parental origin of de novo mutations could be traced in 16 families, including three families with large chromosomal deletions. Four mutations were of maternal and 12 of paternal origin, pointing to a moderate preponderance towards paternal origin. Sex-related differences of mutation types could be observed: large deletions and single-base substitutions were exclusively of paternal origin, whereas the small deletions were equally distributed (maternal/paternal ratio 4:4).

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“…The prevalence of desmoid tumour in FAP is 10-25% [13][14][15]. Bertario et al, [8] and a recent study at Sturt et al, [16] indicated that family history is a risk factor independent of germ line APC mutation and that families do exist with 5´ germ line mutations and a high proportion of members affected with desmoids.…”

Section: Discussionmentioning

confidence: 99%

Desmoid Tumours: Our Experience of Six Cases and Review of Literature

Kallam¹

2014

JCDR

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Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status

Abstract: (Gut 1998;43:675-679)

Cited by 69 publications

References 38 publications

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

Desmoid Tumours: Our Experience of Six Cases and Review of Literature

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