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Year Number of Results
1994 1
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2013 3
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2021 1
2022 4
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27 results

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Page 1
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Pilarski R, et al. J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277. Epub 2013 Oct 17. J Natl Cancer Inst. 2013. PMID: 24136893 Review.
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. ...RESULTS: We found no sufficient evidence to support inclusion of benign breast disease, uterine fibroids, or …
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin …
Current and future role of genetic screening in gynecologic malignancies.
Ring KL, Garcia C, Thomas MH, Modesitt SC. Ring KL, et al. Am J Obstet Gynecol. 2017 Nov;217(5):512-521. doi: 10.1016/j.ajog.2017.04.011. Epub 2017 Apr 12. Am J Obstet Gynecol. 2017. PMID: 28411145 Review.
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unea …
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syn …
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. Knowledge about these spectra and genotype-phenotype associations could help diagnostics and potentially lead to personalized …
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and …
PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.
Ngeow J, Eng C. Ngeow J, et al. Methods. 2015 May;77-78:11-9. doi: 10.1016/j.ymeth.2014.10.011. Epub 2014 Oct 22. Methods. 2015. PMID: 25461771 Review.
Approximately 25% of patients diagnosed with CS have pathogenic germline PTEN mutations, which increase lifetime risks of breast, thyroid, uterine, renal and other cancers. PTEN testing and intensive cancer surveillance allow for early detection and treatment of these canc …
Approximately 25% of patients diagnosed with CS have pathogenic germline PTEN mutations, which increase lifetime risks of breast, thy …
Practical aspects of genetic counseling in breast cancer: lights and shadows.
Christinat A, Pagani O. Christinat A, et al. Breast. 2013 Aug;22(4):375-82. doi: 10.1016/j.breast.2013.04.006. Epub 2013 May 11. Breast. 2013. PMID: 23673076 Review.
In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. ...A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposit …
In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. ...A persona …
Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
Teramae S, Muguruma N, Okamoto K, Oseto K, Nishikawa R, Tanoue T, Hirata K, Yanai S, Matsumoto T, Shimizu S, Miwa J, Sasaki Y, Yashima K, Ohnuma H, Sato Y, Kitayama Y, Ohda Y, Yamauchi A, Sanomura Y, Tanaka K, Kubo Y, Ishikawa H, Bando Y, Sonoda T, Takayama T. Teramae S, et al. Int J Clin Oncol. 2022 Apr;27(4):639-647. doi: 10.1007/s10147-022-02116-w. Epub 2022 Feb 2. Int J Clin Oncol. 2022. PMID: 35106660
BACKGROUND: Cowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multiple hamartomas and a high risk of cancers. However, no detailed data on CS in Asian patients nor genotype-phenotype correlation have be …
BACKGROUND: Cowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multipl …
Hereditary breast cancer: an update on risk assessment and genetic testing in 2015.
Stuckey AR, Onstad MA. Stuckey AR, et al. Am J Obstet Gynecol. 2015 Aug;213(2):161-5. doi: 10.1016/j.ajog.2015.03.003. Epub 2015 Mar 3. Am J Obstet Gynecol. 2015. PMID: 25747548 Review.
The last 5 years have brought significant innovation and advancement in the genetics of breast cancer. This clinical opinion aims to summarize and update current approaches to the care of women at risk for a hereditary predisposition to breast cancer. ...
The last 5 years have brought significant innovation and advancement in the genetics of breast cancer. This clinical opinion aims to …
Study on the Treatment of Tuberous Sclerosis with Rapamycin Nanomicelles Based on Abdominal Ultrasound.
Xiao X, Zhang Y, Zhang Y, Wang L, Luo H. Xiao X, et al. J Nanosci Nanotechnol. 2021 Feb 1;21(2):962-970. doi: 10.1166/jnn.2021.18683. J Nanosci Nanotechnol. 2021. PMID: 33183431
Based on the study of the treatment of tuberous sclerosis patients with rapamycin nanomicelles by abdominal ultrasound, the therapeutic effect and safety were compared and evaluated through the observation and description of the clinical seizure control and the recovery of …
Based on the study of the treatment of tuberous sclerosis patients with rapamycin nanomicelles by abdominal ultrasound, the therapeutic …
Transforming the 2-week wait (2WW) pathway: management of breast pain in primary care.
Jahan M, Bartholomeuz T, Milburn N, Rogers V, Sibbering M, Robertson J. Jahan M, et al. BMJ Open Qual. 2022 Mar;11(1):e001634. doi: 10.1136/bmjoq-2021-001634. BMJ Open Qual. 2022. PMID: 35289304 Free PMC article.
Breast pain has no association with breast cancer yet is a frequent reason for referral from Primary to Secondary Care, often on an urgent (2-week wait) referral. ...This paper reports the pilot implementation of a specialist Primary Care Breast …
Breast pain has no association with breast cancer yet is a frequent reason for referral from Primary to Secondary Care, …
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF. Nieuwenhuis MH, et al. Fam Cancer. 2014 Mar;13(1):57-63. doi: 10.1007/s10689-013-9674-3. Fam Cancer. 2014. PMID: 23934601
We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype-phenotype correlations in PTEN hamartoma tumour syndrome (PHTS) were assessed. Data on patients with PTEN m …
We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LD …
27 results