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Fragile X-Associated Tremor-Ataxia Syndrome

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241. Mesothelioma, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

242. Midline Tract Carcinoma, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

243. Papillomatosis, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

244. Head and Neck Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

245. Gastrointestinal Stromal Tumors, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

246. Esthesioneuroblastoma, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

247. Stomach (Gastric) Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

248. Colorectal Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

249. Esophageal Tumors, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

250. Chordoma, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

251. Vaginal Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

252. Unknown Primary, Childhood Carcinoma of

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

253. Heart Tumors, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

254. Bronchial Tumors, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

255. Carcinoid Tumors, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

256. Breast Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

257. Genetics of Medullary Thyroid Cancer

or neuroendocrine glands. (MEN1), (MEN2), (MEN4), (FPPL), (CSS), and (FNMTC) are covered in this summary. Autosomal dominantly inherited pathogenic variants have been identified as the cause of most of these syndromes. PHEOs and PGLs may also be found in individuals with von Hippel-Lindau disease. (Refer to the section in the PDQ summary on for more information.) Associated Genes and Syndromes MEN1, which is primarily associated with the development of , (NETs), and , is caused by germline pathogenic variants (...) or with medical therapy in high-risk surgical patients. consists of surgical removal of the entire thyroid gland, including the posterior capsule, and central lymph node dissection. Parathyroid and pituitary tumors associated with MEN4 are also managed surgically, in accordance with treatment for other familial syndromes such as MEN1. are also treated surgically. Preoperative management aimed at preventing catecholamine-induced complications of the surgery is common. The mainstay of is complete surgical

2012 PDQ - NCI's Comprehensive Cancer Database

258. Genetics of Skin Cancer

in isolation or as part of a syndrome with other features. and , which are known collectively as nonmelanoma skin cancer, are two of the most common malignancies in the United States and are often caused by sun exposure, although several hereditary syndromes and genes are also associated with an increased risk of developing these cancers. is less common than nonmelanoma skin cancer, but 5% to 10% of all melanomas arise in multiple-case families and may be inherited in an autosomal dominant fashion (...) . Associated Genes and Syndromes Several genes and hereditary syndromes are associated with the development of skin cancer. (BCNS, caused by pathogenic variants in and ) is associated with an increased risk of BCC, while syndromes such as , , , and are associated with an increased risk of SCC. The major tumor suppressor gene associated with melanoma is ; pathogenic variants in CDKN2A have been estimated to account for 35% to 40% of all familial melanomas. Pathogenic variants in many other genes, including

2012 PDQ - NCI's Comprehensive Cancer Database

259. Unusual Cancers of Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

260. Thyroid Tumors, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

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