{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T07:59:30Z","timestamp":1791187170823,"version":"4.1.0"},"reference-count":41,"publisher":"National Academy of Sciences","issue":"5","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1999,3,2]]},"abstract":"<jats:p>\n                    Familial adenomatous polyposis (FAP) is an autosomal-dominant disease characterized by the development of hundreds of adenomatous polyps of the colorectum. Approximately 80% of FAP patients can be shown to have truncating mutations of the APC gene. To determine the cause of FAP in the other 20% of patients, MAMA (monoallelic mutation analysis) was used to independently examine the status of each of the two\n                    <jats:italic>APC<\/jats:italic>\n                    alleles. Seven of nine patients analyzed were found to have significantly reduced expression from one of their two alleles whereas two patients were found to have full-length expression from both alleles. We conclude that more than 95% of patients with FAP have inactivating mutations in\n                    <jats:italic>APC<\/jats:italic>\n                    and that a combination of MAMA and standard genetic tests will identify\n                    <jats:italic>APC<\/jats:italic>\n                    abnormalities in the vast majority of such patients. That no APC expression from the mutant allele is found in some FAP patients argues strongly against the requirement for dominant negative effects of\n                    <jats:italic>APC<\/jats:italic>\n                    mutations. The results also suggest that there may be at least one additional gene, besides\n                    <jats:italic>APC<\/jats:italic>\n                    , that can give rise to FAP.\n                  <\/jats:p>","DOI":"10.1073\/pnas.96.5.2322","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:39:15Z","timestamp":1027679955000},"page":"2322-2326","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":95,"title":["Analysis of masked mutations in familial adenomatous polyposis"],"prefix":"10.1073","volume":"96","author":[{"given":"Steven J.","family":"Laken","sequence":"first","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nickolas","family":"Papadopoulos","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria M.","family":"Petersen","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen B.","family":"Gruber","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley R.","family":"Hamilton","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis M.","family":"Giardiello","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill D.","family":"Brensinger","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"Vogelstein","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Oncology Center and Howard Hughes Medical Institute, 424 North Bond Street, Baltimore, MD 21231; Department of Pathology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; Department of Epidemiology, Johns Hopkins School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205; Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB3, Ann Arbor, MI 48109; Division of Pathology and Laboratory Medicine, M.D...."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth 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