Familial adenomatous polyposis

Lal, Geeta; Gallinger, Steven

doi:10.1002/(sici)1098-2388(200006)18:4<314::aid-ssu6>3.0.co;2-9

Cited by 74 publications

(62 citation statements)

References 79 publications

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“…Fifteen percent of individuals with FAP will develop polyps by age 10, and 90% by age 30 (8). Polyp emergence is seen on average at 16 years of age but can range from 8 to 34 years (4).…”

Section: Familial Adenomatous Polyposis (Fap)supporting

confidence: 68%

“…FAP is caused by mutations in a single gene and follows a dominant inheritance pattern with nearly 100% penetrance (8). About 80-90% of patients with a clinical diagnosis of FAP will be found to have an identifiable mutation in the APC gene (14,15).…”

Section: Genetic Basis Of Diagnosismentioning

confidence: 99%

“…Prophylactic surgery is the mainstay of treatment since 5% of patients with FAP develop colorectal carcinoma by age 20, with most patients developing colorectal cancer by age 40. Family history and patient preference may guide timing of surgery, but it is often deemed appropriate shortly after the time of diagnosis (8).…”

Section: Genetic Basis For Treatmentmentioning

confidence: 99%

“…A number of factors are associated with an increased risk of subsequent rectal cancer: presence of more than 100 rectal polyps, a retained rectal segment greater than 10 to 15 cm, inadequate endoscopic follow-up, and colon cancer at the time of colectomy (8). Additionally, the APC mutation loci can determine the risk of developing rectal cancer following surgery (18 (19).…”

Section: Genetic Basis For Treatmentmentioning

confidence: 99%

“…When the specific mutation is unknown a two tier approach is performed, where first an attempted detection of a known mutation in exons 10,11,8,13,14,15, and 16 is carried out and if a positive result is not obtained reflex sequencing of the entire RET gene is performed (51). Whole gene sequencing is currently the most expensive testing method.…”

Section: Genetic Basis Of Diagnosismentioning

confidence: 99%

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Integrating surgery and genetic testing for the modern surgeon

Caso¹,

Beamer²,

Lofthus³

et al. 2017

Annals of Translational Medicine

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The field of cancer genetics is rapidly evolving and several genetic mutations have been identified in hereditary cancer syndromes. These mutations can be diagnosed via routine genetic testing allowing prompt intervention. This is especially true for certain variants of colorectal, breast, and thyroid cancers where genetic testing may guide surgical therapy. Ultimately, surgical intervention may drastically diminish disease manifestation or progression in individuals deemed as high-risk based on their genetic makeup.Understanding the concepts of gene-based testing and integrating into current surgical practice is crucial.This review addresses common genetic syndromes, tests, and interventions salient to the current surgeon.

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“…Fifteen percent of individuals with FAP will develop polyps by age 10, and 90% by age 30 (8). Polyp emergence is seen on average at 16 years of age but can range from 8 to 34 years (4).…”

Section: Familial Adenomatous Polyposis (Fap)supporting

confidence: 68%

Section: Genetic Basis Of Diagnosismentioning

confidence: 99%

Section: Genetic Basis For Treatmentmentioning

confidence: 99%

Section: Genetic Basis For Treatmentmentioning

confidence: 99%

Section: Genetic Basis Of Diagnosismentioning

confidence: 99%

See 3 more Smart Citations

Integrating surgery and genetic testing for the modern surgeon

Caso¹,

Beamer²,

Lofthus³

et al. 2017

Annals of Translational Medicine

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Pancreas-Sparing Duodenectomy for Duodenal Polyposis

Sarmiento

Thompson²,

Nagorney³

et al. 2002

Archives of Surgery

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Pancreas-sparing duodenectomy (PSD) is a safe and effective operative procedure for patients with nonmalignant duodenal polyps. Design: Retrospective analysis of outcomes in patients undergoing PSD. Setting: A tertiary referral center. Patients: All patients undergoing PSD at the Mayo Clinic, Rochester, Minn. Indications were the presence of numerous duodenal polyps or large, solitary, adenomatous polyps not amenable to endoscopic resection. Dysplasia without frank malignancy was demonstrated in all patients by endoscopic biopsy specimens. Follow-up was complete in all patients. Main Outcome Measures: Operative feasibility, shortand long-term complications, quality of life, and survival. Results: Five patients had diffuse polyposis (familial adenomatous polyposis) and 3 had very large periampullary villous adenomas. The mean age of the patients was 54 years (female-male ratio, 3:1). Colectomy preceded PSD in 5 patients (familial adenomatous polyposis); 3 had previous transduodenal excision of adenomas, and 2 had

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Biallelic inactivation of theAPC gene is associated with hepatocellular carcinoma in familial adenomatous polyposis coli

Abdalla

Law

et al. 2001

Cancer

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BACKGROUND Certain primary hepatic tumors have been associated with familial adenomatous polyposis (FAP), a condition caused by germline mutations of the adenomatous polyposis coli (APC) gene. However, a genetic association between FAP and hepatocellular carcinoma (HCC) has not been shown. This study tested the hypothesis that biallelic inactivation of the APC gene contributed to the development of HCC in a patient with FAP and a known germline mutation of the APC gene at codon 208, but no other risk factors for HCC. METHODS Total RNA and genomic DNA were isolated from the tumor, and in vitro synthesized protein assay and DNA sequencing analysis were used to screen for a somatic mutation in the APC gene. RESULTS A somatic one–base pair deletion at codon 568 was identified in the wild‐type allele of the APC gene. CONCLUSIONS To the authors' knowledge, this study provides the first evidence that biallelic inactivation of the APC gene may contribute to the development of HCC in patients with FAP. Cancer 2001;92:332–9. © 2001 American Cancer Society.

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Familial adenomatous polyposis

Cited by 74 publications

References 79 publications

Integrating surgery and genetic testing for the modern surgeon

Integrating surgery and genetic testing for the modern surgeon

Pancreas-Sparing Duodenectomy for Duodenal Polyposis

Biallelic inactivation of theAPC gene is associated with hepatocellular carcinoma in familial adenomatous polyposis coli

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