OBJECTIVES: Adenomatous polyposis of the colon is often secondary to an inherited mutation in adenomatous polyposis coli (APC) gene, however, approximately one third of patients have no family history of the disease. We studied the phenotype and genotype of adenomatous polyposis in patients without a family history. METHODS: A cohort of 57 unrelated adenomatous polyposis patients were evaluated. Seventeen patients with no family history were compared with 40 patients who had a positive family history of the disease. Family history and medical records were collected and analyzed. Germline APC and Mut Y homologue (MYH) testing was undertaken. RESULTS: Patients without a family history were diagnosed with polyposis at an older age (41 years vs. 32 years) and presenting more frequently with symptoms (76 vs 20, P < 0.05). The number of colonic polyps and frequency of extracolonic manifestation associated with adenomatous polyposis did not differ between the two groups. APC mutations were detected less frequently among patients without a family history of the disease (4 out of 17 vs 25 out of 40, P=0.007), even among those with greater than 100 colorectal adenomas (4 out of 12 versus 21 out of 29, P=0.03). One homozygous MYH mutation carrier (G382D) was detected among the six patients without a family history and without a germline APC mutation who were tested. CONCLUSIONS: Adenomatous polyposis patients without a family history are usually diagnosed with symptoms, and at a later age. Phenotypically, they are similar to those with a family history. However, germline APC mutations are detected far less frequently in patients without a family history. A small percentage of these cases may be secondary to biallelic germline MYH mutations.
OBJECTIVES:Adenomatous polyposis of the colon is often secondary to an inherited mutation in adenomatous polyposis coli (APC) gene, however, approximately one third of patients have no family history of the disease. We studied the phenotype and genotype of adenomatous polyposis in patients without a family history. METHODS: A cohort of 57 unrelated adenomatous polyposispatients were evaluated. Seventeen patients with no family history were compared with 40 patients who had a positive family history of the disease. Family history and medical records were collected and analyzed. Germline APC and Mut Y homologue (MYH) testing was undertaken. RESULTS:Patients without a family history were diagnosed with polyposis at an older age (41 years vs. 32 years) and presenting more frequently with symptoms (76 vs 20, P < 0.05). The number of colonic polyps and frequency of extracolonic manifestation associated with adenomatous polyposis did not differ between the two groups. APC mutations were detected less frequently among patients without a family history of the disease (4 out of 17 vs 25 out of 40, P=0.007), even among those with greater than 100 colorectal adenomas (4 out of 12 versus 21 out of 29, P=0.03). One homozygous MYH mutation carrier (G382D) was detected among the six patients without a family history and without a germline APC mutation who were tested. CONCLUSIONS:Adenomatous polyposispatients without a family history are usually diagnosed with symptoms, and at a later age. Phenotypically, they are similar to those with a family history. However, germline APC mutations are detected far less frequently in patients without a family history. A small percentage of these cases may be secondary to biallelic germline MYH mutations.
Authors: K Heinimann; A Thompson; A Locher; T Furlanetto; E Bader; A Wolf; R Meier; K Walter; P Bauerfeind; G Marra; H Müller; D Foernzler; Z Dobbie Journal: Cancer Res Date: 2001-10-15 Impact factor: 12.701
Authors: Julian R Sampson; Sunil Dolwani; Sian Jones; Diana Eccles; Anthony Ellis; D Gareth Evans; Ian Frayling; Sheila Jordan; Eamonn R Maher; Tony Mak; Julie Maynard; Francesca Pigatto; Joan Shaw; Jeremy P Cheadle Journal: Lancet Date: 2003-07-05 Impact factor: 79.321
Authors: Liang Wang; Linnea M Baudhuin; Lisa A Boardman; Kelle J Steenblock; Gloria M Petersen; Kevin C Halling; Amy J French; Ruth A Johnson; Lawrence J Burgart; Kari Rabe; Noralane M Lindor; Stephen N Thibodeau Journal: Gastroenterology Date: 2004-07 Impact factor: 22.682
Authors: R van der Luijt; P M Khan; H Vasen; C van Leeuwen; C Tops; P Roest; J den Dunnen; R Fodde Journal: Genomics Date: 1994-03-01 Impact factor: 5.736
Authors: Marcia Cruz-Correa; Yaritza Diaz-Algorri; Vanessa Mendez; Pedro Juan Vazquez; Maria Eugenia Lozada; Katerina Freyre; Liselle Lathroum; Maria Gonzalez-Pons; Jessica Hernandez-Marrero; Francis Giardiello; Segundo Rodriguez-Quilichini Journal: Fam Cancer Date: 2013-09 Impact factor: 2.375
Authors: Andrea Salzano; Aldo Rocca; Michele Arcopinto; Bruno Amato; Alberto Maria Marra; Vincenzo Simonelli; Pasquale Mozzillo; Antonio Giuliani; Domenico Tafuri; Mariapia Cinelli Journal: Open Med (Wars) Date: 2015-12-17
Authors: Gianluca Costa; Barbara Frezza; Pietro Fransvea; Giulia Massa; Mario Ferri; Paolo Mercantini; Genoveffa Balducci; Antonio Buondonno; Aldo Rocca; Graziano Ceccarelli Journal: Open Med (Wars) Date: 2019-10-02