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Cowden-Like Syndrome(CWS2)

MedGen UID:
436704
•Concept ID:
C2676500
•
Disease or Syndrome
Synonym: CWS2

Recent clinical studies

Etiology

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E
Fam Cancer 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0. PMID: 28608266
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.
Mahdi H, Mester JL, Nizialek EA, Ngeow J, Michener C, Eng C
Cancer 2015 Mar 1;121(5):688-96. Epub 2014 Nov 5 doi: 10.1002/cncr.29106. PMID: 25376524Free PMC Article
PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.
He X, Saji M, Radhakrishnan D, Romigh T, Ngeow J, Yu Q, Wang Y, Ringel MD, Eng C
J Clin Endocrinol Metab 2012 Nov;97(11):E2179-87. Epub 2012 Sep 7 doi: 10.1210/jc.2012-1991. PMID: 22962422Free PMC Article
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C
J Clin Endocrinol Metab 2011 Dec;96(12):E2063-71. Epub 2011 Sep 28 doi: 10.1210/jc.2011-1616. PMID: 21956414Free PMC Article
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Diagnosis

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E
Fam Cancer 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0. PMID: 28608266
Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma.
Efstathiadou ZA, Sapranidis M, Anagnostis P, Kita MD
Head Neck 2014 Jan;36(1):E12-6. Epub 2013 Oct 16 doi: 10.1002/hed.23420. PMID: 23804288
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. PMID: 23066114Free PMC Article
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C
J Clin Endocrinol Metab 2011 Dec;96(12):E2063-71. Epub 2011 Sep 28 doi: 10.1210/jc.2011-1616. PMID: 21956414Free PMC Article
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Prognosis

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E
Fam Cancer 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0. PMID: 28608266
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.
Mahdi H, Mester JL, Nizialek EA, Ngeow J, Michener C, Eng C
Cancer 2015 Mar 1;121(5):688-96. Epub 2014 Nov 5 doi: 10.1002/cncr.29106. PMID: 25376524Free PMC Article
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. PMID: 23066114Free PMC Article
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C
J Clin Endocrinol Metab 2011 Dec;96(12):E2063-71. Epub 2011 Sep 28 doi: 10.1210/jc.2011-1616. PMID: 21956414Free PMC Article
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Clinical prediction guides

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E
Fam Cancer 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0. PMID: 28608266
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.
Mahdi H, Mester JL, Nizialek EA, Ngeow J, Michener C, Eng C
Cancer 2015 Mar 1;121(5):688-96. Epub 2014 Nov 5 doi: 10.1002/cncr.29106. PMID: 25376524Free PMC Article
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. PMID: 23066114Free PMC Article
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.
Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C
Hum Mol Genet 2012 Jan 15;21(2):300-10. Epub 2011 Oct 6 doi: 10.1093/hmg/ddr459. PMID: 21979946Free PMC Article
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Supplemental Content

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