Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene.

Eckert, Werner A.; Jung, C; Wolff, Gerhard

doi:10.1136/jmg.31.6.442

Cited by 18 publications

(7 citation statements)

References 27 publications

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“…In two of these families we identified the haplotype associated with the disease by indirect molecular analysis, using APC gene intragenic and flanking polymorphic markers. The flanking markers used were: the microsatellites D5S82, D5S299, D5S122, D5S134, (CA)DP1, MCC, JW25 (Eckert et al, 1994;Breukel et al, 1991;Koorey et al, 1992), and the extragenic restriction fragment length polymorphism (RFLP) EF5.44 (Olschwang et al,1992). The intragenic markers analyzed were: the RFLP at the 3' untranslated region, those at nucleotide positions 1458, 5037, and 5468 (Heighway et al, 1991;Kraus et al, 1992;De Rosa et al, 1998).…”

Section: Resultsmentioning

confidence: 99%

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

et al. 1999

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Section: Resultsmentioning

confidence: 99%

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

et al. 1999

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“…Sixtythree people were approached when attending 8 (53%) 6 (15%) No who had children 9 (60%) 20 (51%) No who had one affected child 4 (26%) 2 (5%) No who had more than one affected child 2 (13%) 2 (5%) No who had an extracolonic complication themselves 2 (13%) 1 (2-6%) No who had FAP related death in family 10 (67%) 13 (33%) 1 (12-5%) a routine OPD appointment, before receiving professional genetic counselling, and 62 agreed to participate. Median age of the patients was 38 years (range 19-67 years).…”

Section: Methodsmentioning

confidence: 99%

Attitudes to predictive DNA testing in familial adenomatous polyposis.

Whitelaw

Northover

Hodgson

1996

Journal of Medical Genetics

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Attitudes to predictive DNA testing for familial adenomatous polyposis were documented in 62 affected adults. Patient views on prenatal testing and termination ofpregnancy for this disorder were sought, as were opinions on the most suitable age to offer predictive testing for at risk children and the most appropriate age to begin screening. While 15 (24%) of those questioned stated that they would proceed to termination of pregnancy if a prenatal test indicated that the unborn baby was affected, in clinical practice no one has yet requested this option. Six (10%) people who had refrained from having children for fear ofpassing on the polyposis gene felt that the arrival of prenatal testing would enable them to consider planning a family. The majority of patients (93%) said they would like their children tested by DNA analysis at birth or in infancy, but felt that 10 to 12 years was the most appropriate time to discuss the diagnosis with the child. (J Med Genet 1996;33:540-543)

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“…Disruption of APC function is an early event in colorectal tumorigenesis and is present in a majority of colon tumors (21)(22)(23). Germline mutations in the APC gene lead to an inherited colon cancer syndrome known as familial adenomatous polyposis syndrome (FAP), in which affected individuals present with thousands of polyps at a young age (24,25) Vogelstein and colleagues reported a polymorphism (T→A transversion at APC nucleotide 3920, codon 1307) found in 6.1% of Ashkenazi Jews and~28% of Ashkenazim with a family *To whom correspondence should be addressed. Tel: +1 212 746 6509; Fax: +1 212 746 8587; Email: barany@mail.med.cornell.edu history of colon cancer (26).…”

Section: Introductionmentioning

confidence: 99%

Ligase-based detection of mononucleotide repeat sequences

Zirvi

Nakayama

Newman

et al. 1999

Nucleic Acids Research

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Up to 15% of all colorectal cancers are considered to be replication error positive (RER(+)) and contain mutations at hundreds of thousands of microsatellite repeat sequences. Recently, a number of intragenic mononucleotide repeat sequences have been demonstrated to be targets for inactivating genes in RER(+)colorectal tumors. In this study, thermostable DNA ligases were tested for the ability to detect alterations in microsatellite sequences in colon tumor samples. Ligation profiles on mononucleotide repeat sequences were determined for four related thermostable DNA ligases, Thermus thermophilus ( Tth ) ligase, Thermus sp. AK16D ligase, Aquifex aeolicus ligase and the K294R mutant of the Tth ligase. While the limit of detection for point mutations was one mutation in 1000 wild-type sequences, the ability to detect a single base deletion in a 10 base mononucleotide repeat was one mutation in 100 wild-type sequences. Furthermore, the misligation error increased exponentially as the length of the mono-nucleotide repeat increased, and was 10% of the correct signal for a 19 base mononucleotide repeat. A fluorescent ligase-based assay [polymerase chain reaction/ligase detection reaction (PCR/LDR)] correlated with results obtained using a radioactive assay to detect instability within the TGF-beta Type II receptor gene. PCR/LDR was also used to detect the APCI1307K mononucleotide repeat allele which has a carrier frequency of 6.1% in Ashkenazi Jewish individuals. In a blind study, 30 samples that had been typed for the presence of the APCI1307K allele were tested. The PCR/LDR results correlated with those obtained using sequencing and allele-specific oligonucleotide hybridization for 16 samples carrying the mutation and 13 wild-type samples. Ligation assays that characterize mononucleotide repeats can be used to rapidly detect somatic mutations in tumors, and to screen for individuals who have a hereditary predisposition to develop colon cancer.

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Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene.

Cited by 18 publications

References 27 publications

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

Attitudes to predictive DNA testing in familial adenomatous polyposis.

Ligase-based detection of mononucleotide repeat sequences

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