The DOI matches its Crossref record; 69 of the 69 references it cites were found in a registry or an index.
Cowden Syndrome: A Critical Review of the Clinical Literature
Abstract
Cowden syndrome (CS) is a multi‐system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the literature, many of which predate the establishment in 1996 of consensus diagnostic criteria. Many of these reports also suffer from ascertainment bias which emphasized the dermatologic features of the disease. This paper presents an overview of Cowden syndrome focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.
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Cites
High cumulative incidence of uterine leiomyoma in black and white women: Ultrasound evidence
Day Baird, D., Dunson, D. B., Hill, M. C., Cousins, D., & Schectman, J. M. (2003) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2003.99 · Cited by 2,435
Liaw, D., Marsh, D. J., Li, J., Dahia, P. L. M., Wang, S. I., Zheng, Z., Bose, S., Call, K. M., Tsou, H. C., Peacoke, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-64 · Cited by 2,091
Breast Cancer, Version 4.2017, NCCN Clinical Practice Guidelines in Oncology
Gradishar, W. J., Anderson, B. O., Balassanian, R., Blair, S. L., Burstein, H. J., Cyr, A., Elias, A. D., Farrar, W. B., Forero, A., Giordano, S. H., et al. (2018) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2018.0012 · Cited by 1,609
Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H. J., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., et al. (1998) · Science · doi:10.1126/science.280.5366.1086 · Cited by 907
Altered PTEN Expression as a Diagnostic Marker for the Earliest Endometrial Precancers
Mutter, G. L. (2000) · Journal of the National Cancer Institute · doi:10.1093/jnci/92.11.924 · Cited by 829
Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024646 · Cited by 778
Self-citationLocalization of the gene for Cowden disease to chromosome 10q22–23
Nelen, M. R., Padberg, G. W., Peeters, E. A. J., Lin, A. Y., Helm, B. V. D., Frants, R. R., Goulon, V., Goldstein, A. M., Reen, M. M. M. V., Eastern, D. F., et al. (1996) · Nature Genetics · doi:10.1038/ng0596-114 · Cited by 668
Marsh, D. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.507 · Cited by 653 · cited 5×
“…also not likely to be of value in families with no signs of CS other than breast and thyroid cancers in the same individual or in close relatives (Marsh et al. 1998a), breast cancer and brain cancer in the same individual or family (Lauge et al. 1999) or in women with double primary cancers in…”
BackgroundInfluentialGermline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., & Vogelstein, B. (2001) · Nature Genetics · doi:10.1038/88919 · Cited by 629
Marsh, D. J., Kum, J. B., Lunetta, K. L., Bennett, M. J., Gorlin, R. J., Ahmed, S. F., Bodurtha, J., Crowe, C., Curtis, M. A., Dasouki, M., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.8.1461 · Cited by 612
Cited by
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Hereditary and Familial Colon Cancer
Jasperson, K. W., Tuohy, T. M., Neklason, D. W., & Burt, R. W. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.01.054 · Cited by 1,312
Pilarski, R., Burt, R., Kohlman, W., Pho, L., Shannon, K. M., & Swisher, E. (2013) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djt277 · Cited by 654
Self-citationMeulepas, J. M., Ronckers, C. M., Merks, J., Weijerman, M. E., Lubin, J. H., & Hauptmann, M. (2016) · Journal of Radiological Protection · doi:10.1088/0952-4746/36/4/953 · Cited by 29
Metadata
- Authors
- Pilarski, R.
- Venue
- Journal of Genetic Counseling
- Publisher
- Wiley
- Published
- 2008-10-30
- Volume
- 18
- Issue
- 1
- Pages
- 13-27
- ISSN
- 1059-7700 (ISSN-L)
- 1573-3599
- OpenAlex
- W2075724058
- Cited by
- 311
- References
- 69
- FWCI
- 10.90
- Type
- journal article
- Language
- en
- Open access
- closed
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