References used for genotype-phenotype correlation of sites of protein truncation to human FAP severity

Albuquerque C., Breukel C., van der Luijt R., Fidalgo P., Lage P., Slors F.J., Leitao C.N., Fodde R., Smits R. (2002). The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade. Hum Mol Genet. 11: 1549-60.

Armstrong J.G., Davies D.R., Guy S.P., Frayling I.M., Evans D.G. (19970. APC mutations in familial adenomatous polyposis families in the Northwest of England. Hum Mutat. 10: 376-80.

Bisgaard M.L., Ripa R.S., Bulow S. (2004). Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). Hum Mutat. 23: 522.

Brensinger J.D., Laken S.J., Luce M.C., Powell S.M., Vance G.H., Ahnen D.J., Petersen G.M., Hamilton S.R., Giardiello F.M. (1998). Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. Gut. 43: 548-52.

Bunyan D.J., Shea-Simonds J., Reck A.C., Finnis D., Eccles D.M. (1995). Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. J Med Genet. 32: 728-31.

Couture J., Mitri A., Lagace R., Smits R., Berk T., Bouchard H.L., Fodde R., Alman B., Bapat B. (2000). A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin Genet. 57: 205-12.

De Rosa M., Scarano M.I., Panariello L., Morelli G., Riegler G., Rossi G.B., Tempesta A., Romano G., Renda A., Pettinato G., Izzo P. (2003). The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. Hum Mutat. 21: 655-6.

Eccles D., Harvey J., Bateman A., Ross F. (2001). A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour. J Med Genet. 38: 861-3.

Enomoto M., Konishi M., Iwama T., Utsunomiya J., Sugihara K.I., Miyaki M. (2000). The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. Jpn J Clin Oncol. 30: 82-8.

Ficari F., Cama A., Valanzano R., Curia M.C., Palmirotta R., Aceto G., Esposito D.L., Crognale S., Lombardi A., Messerini L., Mariani-Costantini R., Tonelli F., Battista P. (2000). APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. Br J Cancer. 82: 348-53.

Friedl W., Caspari R., Sengteller M., Uhlhaas S., Lamberti C., Jungck M., Kadmon M., Wolf M., Fahnenstich J., Gebert J., Moslein G., Mangold E., Propping P. (2001). Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut. 48: 515-21.

Gismondi V., James R., De Benedetti L., Heouaine A., Biticchi R., Masetti E., Bertario L., Sala P., Grammatico P. (1993). APC gene mutations in Italian familial polyposis coli patients. Cancer Detect Prev. 17: 279-81.

Ionescu D.N., Papachristou G., Schoen R.E., Hedge M., Richards C.S., Monzon F.A. (2005). Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. Arch Pathol Lab Med. 129: 1401-4.

Iwama T., Konishi M., Iijima T., Yoshinaga K., Tominaga T., Koike M., Miyaki M. (1999). Somatic mutation of the APC gene in thyroid carcinoma associated with familial adenomatous polyposis. Jpn J Cancer Res. 90: 372-6.

Kartheuser A, Walon C, West S, Breukel C, Detry R, Gribomont AC, Hamzehloei T, Hoang P, Maiter D, Pringot J, Rahier J, Khan PM, Curtis A, Burn J, Fodde R, Verellen-Dumoulin C. (1999). Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation. J Med Genet. 36:65-7.

Kim D.W., Kim I.J., Kang H.C., Park H.W., Shin Y., Park J.H., Jang S.G., Yoo B.C., Lee M.R., Hong C.W., Park K.J., Oh N.G., Kim N.K., Sung M.K., Lee B.W., Kim Y.J., Lee H., Park J.G. (2005). Mutation spectrum of the APC gene in 83 Korean FAP families. Hum Mutat. 26: 281.

Kohoutova M., Stekrova J., Jirasek V., Kapras J. (2002). APC germline mutations identified in Czech patients with familial adenomatous polyposis. Hum Mutat. 19: 460-1.

Lamlum H., Ilyas M., Rowan A., Clark S., Johnson V., Bell J., Frayling I., Efstathiou J., Pack K., Payne S., Roylance R., Gorman P., Sheer D., Neale K., Phillips R., Talbot I., Bodmer W., Tomlinson I. (1999). The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. Nat Med. 5: 1071-5.

Leggett B.A., Young J.P., Biden K., Buttenshaw R.L., Knight N., Cowen A.E. (1997). Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520. Gut. 41: 518-21.

Matsumoto T., Lida M., Kobori Y., Mizuno M., Nakamura S., Hizawa K., Yao T. (2002). Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions. Am J Gastroenterol. 97: 180-5.

Mihalatos M., Apessos A., Dauwerse H., Velissariou V., Psychias A., Koliopanos A.,
Petropoulos K., Triantafillidis J.K., Danielidis I., Fountzilas G., Agnantis N.J., Nasioulas G. (2005). Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. BMC Cancer. 5: 40.

Miyaki M., Konishi M., Kikuchi-Yanoshita R., Enomoto M., Igari T., Tanaka K., Muraoka M., Takahashi H., Amada Y., Fukayama M. (1994). Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res. 54: 3011-20.

Miyoshi Y., Ando H., Nagase H., Nishisho I., Horii A., Miki Y., Mori T., Utsunomiya J., Baba S., Petersen G., Hamilton S.R., Kinzler K.W., Vogelstein B., Nakamura Y. (1992a). Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci U S A. 89: 4452-6.

Miyoshi Y., Nagase H., Ando H., Horii A., Ichii S., Nakatsuru S., Aoki T., Miki Y., Mori T., Nakamura Y. (1992b). Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet. 1: 229-33.

Montera M., Piaggio F., Marchese C., Gismondi V., Stella A., Resta N., Varesco L., Guanti G., Mareni C. (2001). A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family. J Med Genet. 38: 863-7.

Mori T., Nagase H., Aoki T., Arakawa H., Nishihira T., Mori S., Nakamura Y. (1993). The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region. Hum Mutat. 2: 240-3.

Neklason D.W., Solomon C.H., Dalton A.L., Kuwada S.K., Burt R.W. (2004). Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype. Fam Cancer. 3: 35-40.

Olschwang S., Laurent-Puig P., Groden J., White R., Thomas G. (1993). Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet. 52: 273-9.

Paffenholz R., Mandl M., Caspari R., Sengteller M., Propping P., Friedl W. (1994). Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene. Hum Mol Genet. 3: 1703-4.

Park J.G., Han H.J., Kang M.S., Nakamura Y. (1994). Presymptomatic diagnosis of familial adenomatous polyposis coli. Dis Colon Rectum. 37: 700-7.

Paul P., Letteboer T., Gelbert L., Groden J., White R., Coppes M.J. (1993). Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. Hum Mol Genet. 2: 925-31.

Resta N., Stella A., Susca F., Montera M., Gentile M., Cariola F., Prete F., Tenconi R., Tibiletti M.G., Logrieco G., Mattina T., Andriulli G., Caruso M.L., Fiorente P., Russo S., Caputi-Jambrenghi O., Mareni C., Guanti G. (2001). Nine novel APC mutations in Italian FAP patients. Hum Mutat. 17: 434-5.

Rozen P., Samuel Z., Shomrat R., Legum C. (1999). Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. Gut. 45: 829-33.

Scarano M.I., De Rosa M., Gentile M., Bucci L., Ferulano G.P., Carlomagno N., Renda A., Guanti G., Salvatore F., Izzo P. (1997). Three novel germline mutations in the adenomatous polyposis coli gene. Hum Mutat. 9: 191-3.

Soravia C., Berk T., Madlensky L., Mitri A., Cheng H., Gallinger S., Cohen Z., Bapat B. (1998). Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet. 62: 1290-301.

Tamura K., Yamamoto Y., Saeki Y., Furuyama J., Utsunomiya J. (1993). Simple, rapid, and accurate determination of deletion mutations by automated DNA sequencing of heteroduplex fragments of the adenomatous polyposis coli (APC) gene generated by PCR amplification. Hum Mutat. 2: 478-84.

Won Y.J., Park K.J., Kwon H.J., Lee J.H., Kim J.H., Kim Y.J., Chun S.H., Han H.J., Park J.G. (1999). Germline mutations of the APC gene in Korean familial adenomatous polyposis patients. J Hum Genet. 44: 103-8.