Clinical Implications for Germline PTEN Spectrum Disorders

Ngeow Joanne; Sesock Kaitlin; Eng Charis

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Clinical Implications for Germline PTEN Spectrum Disorders

机译：种系PTEN光谱疾病的临床影响

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Patients with PTEN hamartoma tumor syndrome (PHTS) may present to a variety of different subspecialties with benign and malignant clinical features. They have increased lifetime risks of breast, endometrial, thyroid, renal, and colon cancers, as well as neurodevelopmental disorders such as autism spectrum disorder. Patients and affected family members can be offered gene-directed surveillance and management. Patients who are unaffected can be spared unnecessary investigations. With longitudinal follow-up, we are likely to identify other non-cancer manifestations associated with PHTS such as metabolic, immunologic, and neurologic features.

机译：PTEN HORAMARTOMA肿瘤综合征（PHTS）的患者可能存在于具有良性和恶性临床特征的各种不同亚特色。它们增加了乳腺癌，子宫内膜，甲状腺，肾癌和结肠癌的寿命风险，以及神经发育障碍，如自闭症谱系障碍。患者和受影响的家庭成员可以提供基因导向的监控和管理。不受影响的患者可以避免不必要的调查。通过纵向随访，我们可能会识别与代谢，免疫学和神经系统特征等PHTS相关的其他非癌症表现。

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来源
《Endocrinology and Metabolism Clinics of North America》 |2017年第2期|共16页
作者
Ngeow Joanne; Sesock Kaitlin; Eng Charis;
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作者单位

Natl Canc Ctr Canc Genet Serv Div Med Oncol 11 Hosp Dr Singapore 169610 Singapore;

Cleveland Clin Genom Med Inst 9500 Euclid Ave NE 50 Cleveland OH 44195 USA;

Cleveland Clin Genom Med Inst 9500 Euclid Ave NE 50 Cleveland OH 44195 USA;

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原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
PTEN; PTEN hamartoma tumor syndrome; Cowden syndrome;

机译：PTEN;PTEN HORAMATROMA肿瘤综合征;牛仔综合征;

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专利

1. Clinical Implications for Germline PTEN Spectrum Disorders [J] . Ngeow Joanne, Sesock Kaitlin, Eng Charis Endocrinology and Metabolism Clinics of North America . 2017,第2期

机译：种系PTEN光谱疾病的临床影响
2. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. [J] . Butler MG, Dasouki MJ, Zhou XP, Journal of Medical Genetics . 2005,第4期

机译：自闭症谱系障碍和极端大头畸形与种系PTEN肿瘤抑制基因突变相关的个体亚群。
3. Breast cancer risk and clinical implications for germline PTEN mutation carriers [J] . Ngeow Joanne, Sesock Kaitlin, Eng Charis Breast cancer research and treatment. . 2017,第1期

机译：种系PTEN突变载体的乳腺癌风险和临床意义
4. PRIMARY FAILURE OF ERUPTION: CLINICAL IMPLICATIONS OF A GENETIC DISORDER [C] . Sylvia A. Frazier-Bowers Moyers Symposium . 2011

机译：爆发的初次失败：遗传症的临床意义
5. Clinical Correlates of Social Affect in Early Infancy: Implications for Early Identification of Autism Spectrum Disorder [D] . Bradshaw, Jessica L. 2015

机译：婴儿期社会影响的临床相关性：对自闭症谱系障碍的早期识别的意义
6. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN [O] . Robyn M. Busch, Siddharth Srivastava, Olivia Hogue, 2019

机译：与PTEN种系杂合突变相关的自闭症谱系障碍的神经行为表型
7. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN [O] . Robyn M. Busch, Siddharth Srivastava, Olivia Hogue, 2019

机译：PTEN中与种系杂合酶突变相关的自闭症谱系疾病的神经衰弱表型

Clinical Implications for Germline PTEN Spectrum Disorders

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