APC Genotype, Polyp Number, and Surgical Options in Familial Adenomatous Polyposis

Wu, James S.; Paul, Philip; McGannon, Ellen; Church, James M.

doi:10.1097/00000658-199801000-00009

Cited by 159 publications

(65 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…37,38 In this study we report the combined application of molecular techniques and current genotype-phenotype knowledge to evaluate the practicability and efficiency of genetic testing. Our aims were threefold: to identify APC germline mutations by establishing an efficient strategy for genetic testing, integrating clinical information in the mutation analysis; to examine whether the data of our registry could support established and proposed genotype-phenotype correlations; and to discern whether molecular data could ultimately influence clinical proceedings, apart from differentiating carriers and noncarriers of a mutant APC allele among persons at risk.…”

Section: Discussionmentioning

confidence: 99%

Combined Molecular and Clinical Approaches for the Identification of Families with Familial Adenomatous Polyposis Coli

Gebert¹,

Dupon²,

Kadmon³

et al. 1999

Annals of Surgery

View full text Add to dashboard Cite

ObjectiveUsing an interdisciplinary clinical and molecular approach, the authors identified APC germline mutations in families with familial adenomatous polyposis (FAP). Correlation of mutation site with disease manifestation and the impact of molecular data on clinical proceedings were examined. Summary Background DataGermline mutations in the APC gene predispose to FAP. Established and proposed genotype-phenotype correlations as well as the influence of mutation site on surgical procedures have been reported. The predictive value of APC mutation analysis for disease manifestation and therapeutic decision making needs to be investigated further. MethodsOne hundred twenty-three kindreds of the local FAP registry were included in this study. CHRPE phenotype was defined as at least one large charactenstic lesion or a total of four lesions in both eyes. APC mutations were identified by protein truncation test and automated DNA sequencing from patient Iyrphocyte DNA and RNA. ResultsAPC germline mutations were identified in 85/123 families with FAP. They were located between codons 213 and 1581 of the APC gene and displayed distinct genotypephenotype correlations. CHRPE status facilitated mutation analysis by discriminating regions of interest within the APC coding region. Severe manifestations of desmoids were restricted to mutations between codons 1444 through 1581. Whereas 91% (75/82) of at-risk persons were excluded as mutation carriers, APC germline mutations were detected before clinical examination in 9% (7/82) of at-risk persons. One patient agreed to endoscopy only after mutation detection. ConclusionsThis study supports the feasibility of combined molecular and clinical screening of families with FAP and may provide a guideline for routine presymptomatic molecular diagnostics in a clinical laboratory.Familial adenomatous polyposis coli (FAP) is characterized by hundreds to thousands of colorectal adenomas that usually emerge during the second and third decade of life and harbor a high risk of malignant transformation. Patients Partly funded by a "Bundesministerium fur Bildung, Wissenschaft, For-schung und Technologie (BMBF)" grant #01-GB-9404.

show abstract

Section: Discussionmentioning

confidence: 99%

Combined Molecular and Clinical Approaches for the Identification of Families with Familial Adenomatous Polyposis Coli

Gebert¹,

Dupon²,

Kadmon³

et al. 1999

Annals of Surgery

View full text Add to dashboard Cite

show abstract

“…Three options are usually considered; colectomy with ileorectal anastomosis (IRA), proctocolectomy with ileopouch anal anastomosis (IPAA) and proctocolectomy with end ileostomy. 6 Our choice of the operation of extended right hemicolectomy as against a total colectomy with ileoanal anastomosis was predicated on the premise that the development of short bowel syndrome would be lethal in this patient. A patient of this age (70 years), diabetic and hypertensive would not tolerate the malabsorption and the fluid and electrolyte losses this syndrome will produce.…”

Section: Discussionmentioning

confidence: 99%

Adenomatous polyposis coli in an elderly female Nigerian

Alese

Irabor²

2010

Ghana Medical Journal

View full text Add to dashboard Cite

SUMMARYColorectal cancer is reported to occur in lower rates in Africans and some of the reasons adduced include a rarity of polyposis coli syndromes. Only two cases of polyposis coli have been documented in Nigeria in the last 15 years. The present case is an elderly lady who had radiologic and colonoscopic evidence of multiple colonic polyps. She had a colonic resection and the histology was reported as multiple polyposis coli, follicular hyperplasia and submucosal fibrosis in the appendix, and reactive hyperplasia in the mesenteric lymph nodes. There was no evidence of malignancy. This is the first case report of polyposis coli in a living elderly patient in Nigeria.

show abstract

“…So wird die Häufigkeit einer Blutung mit 2% und die einer Perforation mit 0,3% angegeben [5,6] [31].…”

Section: Minimal-invasive Chirurgische Therapie Kolorektaler Adenomeunclassified

Chirurgische Konzepte und Strategien bei Kolonadenomen und Polyposissyndromen

Pistorius¹,

Wehrmann²,

Teichert³

et al. 2002

Visc Med

View full text Add to dashboard Cite

Surgical Approach and Strategies in Colon Adenomas and Polyposis Syndromes Development of modern, minimally invasive methods for diagnosis and treatment in the field of colorectal tumours enables an effective surveillance for persons at high risk as well as a distinct cancer prevention by endoscopic, transanal or TEM removal of colorectal adenomas. Introduction of laparoscopic techniques in the resection of colorectal tumours could entail, after evaluation of preliminary results, a decreased duration of hospitalisation and procedure-associated morbidity in patients with the same prognosis. The very high risk for development of colorectal tumours as well as for some extracolonic neoplasia is typical for familial colorectal cancer syndromes. This concerns hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, familial polyposis coli, and the infrequent forms like Peutz-Jeghers syndrome and juvenile polyposis. Molecular diagnostics has the power to identify carriers and noncarriers of a mutated gene in these families and therefore may permit clear-cut decisions regarding inclusion in special surveillance programmes, which is recommended for all persons at risk from affected families. Concerning the surgical approach in patients with hereditary colorectal cancer, well-accepted routine procedures like restorative proctocolectomy in familiar polyposis patients have already been established; in other forms like HNPCC the best surgical modality is still under discussion. Remarkable progress in the prevention of colorectal tumours could be expected from chemoprevention trials in the next years.

show abstract

APC Genotype, Polyp Number, and Surgical Options in Familial Adenomatous Polyposis

Cited by 159 publications

References 17 publications

Combined Molecular and Clinical Approaches for the Identification of Families with Familial Adenomatous Polyposis Coli

Combined Molecular and Clinical Approaches for the Identification of Families with Familial Adenomatous Polyposis Coli

Adenomatous polyposis coli in an elderly female Nigerian

Chirurgische Konzepte und Strategien bei Kolonadenomen und Polyposissyndromen

Contact Info

Product

Resources

About