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Cowden Syndrome sentence examples within multiple hamartoma syndrome

multiple hamartoma syndrome

Because of the association of these two neoplasms, the possibility of Cowden Syndrome - multiple hamartoma syndrome - was raised, but was excluded by genetic analysis of PTEN gene.

Follicular thyroid carcinoma metastatic to skin: a small papule and a big diagnostic change*

multiple hamartoma syndrome

Cowden syndrome (CS) is a multiple hamartoma syndrome associated with the development of various tumors, including endometrial cancer.

Endometrial Endometrioid Carcinoma With Ovarian Metastasis Showing Morula-like Features in a Patient With Cowden Syndrome: A Case Report.

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Cowden Syndrome sentence examples within autism spectrum disorder

autism spectrum disorder

Germline mutation of PTEN is causally observed in Cowden syndrome (CS) and is one of the most common genetic causes of autism spectrum disorder (ASD).

Redefining the PTEN Promoter: Identification of Two Upstream Transcription Start Regions

autism spectrum disorder

Germline mutation of PTEN is causally observed in Cowden syndrome (CS) and is one of the most common, penetrant risk genes for autism spectrum disorder (ASD).

Redefining the PTEN promoter: Identification of novel upstream transcription start regions.

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Cowden Syndrome sentence examples within autosomal dominant disorder

autosomal dominant disorder

Cowden Syndrome (CS) is an autosomal dominant disorder characterized by hamartomatous growth in several organs and by an increased risk of malignancies, which makes its recognition essential to undertake risk reduction measures.

Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review.

autosomal dominant disorder

Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomatous neoplasms in a variety of tissues and is associated with germline mutations in the PTEN gene.

Surgical approach to gastric polyposis in Cowen syndrome—case report

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10.1155/2019/4365754

Methods We collected clinical data of patients with hereditary cancers, identified via genetic testing (or clinically diagnosed in cases of Cowden syndrome or Peutz–Jeghers syndrome), and treated in our gynecological department from 2012 to 2018.

Challenges in Managing Patients with Hereditary Cancer at Gynecological Services

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10.1097/AOG.0000000000003563

The most common hereditary cancer syndromes related to women's cancer include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer.

Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793.

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10.1016/j.wneu.2019.02.245

BACKGROUND Cowden syndrome, is characterized by multiple hamartomas and accompanied by a germline mutation of the phosphatase and tensin homolog gene.

Giant cerebral aneurysm in a patient with Cowden syndrome treated with surgical clipping; a case report.

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10.1186/s12935-019-1058-9

Although most ECs are sporadic, 2–5% tend to be familial, being associated with Lynch syndrome and Cowden syndrome.

Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region

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10.1146/annurev-med-052218-125823

Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germline PTEN mutations.

The Clinical Spectrum of PTEN Mutations.

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10.1007/978-981-13-3438-2_4

This chapter elaborates the genetic syndromes like hereditary nonpolyposis colorectal cancer (HNPCC) syndrome also known as Lynch syndrome, hereditary breast and ovarian cancer (HOBC) syndrome, Cowden syndrome, Li-Fraumeni syndrome, and Peutz-Jeghers syndrome, which are found to be responsible for majority of the hereditary gynecological malignancies.

Hereditary Endometrial and Ovarian Cancers

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10.1200/PO.19.00130

Cowden syndrome is an autosomal dominant genetic disease with an estimated incidence of one in 200,000.

Exceptional Response to AKT Inhibition in Patients With Breast Cancer and Germline PTEN Mutations

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10.1038/s41439-019-0056-8

A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome.

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

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10.1634/theoncologist.2019-0514

This is the first human interventional study in patients with Cowden syndrome that is driven by inactivation of germline PTEN gene.

A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN

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10.1055/s-0039-1693682

In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex.

Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

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10.1111/jpc.14335

The combination of follicular thyroid carcinoma (FTC) and requirement of surgery for vascular malformation brought to mind the possibility of a diagnosis of Cowden syndrome/phosphatase and tensin homologue hamartoma tumour syndrome (CS/PHTS).

A case of follicular thyroid carcinoma associated with phosphatase and tensin homologue hamartoma tumour syndrome

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10.4143/crt.2017.579

Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences.

PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers

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10.1038/s41379-019-0316-7

Most patients with Cowden syndrome have lesions in the gastrointestinal tract, characterized by multiple polyps of various histologic types in the large bowel, polyps in the upper gastrointestinal tract, and esophageal glycogenic acanthosis.

Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients

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10.1038/s41525-019-0080-0

For example, germline PTEN mutations cause a subset of Cowden syndrome, but each component cancer belonging to this syndrome can be common in the general population or other differential diagnoses.

Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine

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10.1186/s12885-019-6272-2

However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS).

Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome

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10.1111/cup.13595

A solitary tumor, as well as multifocal lesions, are found either sporadically, or associated with Cowden syndrome.

Pacinian collagenoma: A distinct form of sclerotic fibroma

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Cowden Syndrome
Encyclopedia

What is/are Cowden Syndrome?

Cowden Syndrome - Methods We collected clinical data of patients with hereditary cancers, identified via genetic testing (or clinically diagnosed in cases of Cowden syndrome or Peutz–Jeghers syndrome), and treated in our gynecological department from 2012 to 2018. [1] The most common hereditary cancer syndromes related to women's cancer include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer. [2] BACKGROUND Cowden syndrome, is characterized by multiple hamartomas and accompanied by a germline mutation of the phosphatase and tensin homolog gene. [3] Although most ECs are sporadic, 2–5% tend to be familial, being associated with Lynch syndrome and Cowden syndrome. [4] Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germline PTEN mutations. [5] This chapter elaborates the genetic syndromes like hereditary nonpolyposis colorectal cancer (HNPCC) syndrome also known as Lynch syndrome, hereditary breast and ovarian cancer (HOBC) syndrome, Cowden syndrome, Li-Fraumeni syndrome, and Peutz-Jeghers syndrome, which are found to be responsible for majority of the hereditary gynecological malignancies. [6] Cowden syndrome is an autosomal dominant genetic disease with an estimated incidence of one in 200,000. [7] A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. [8] This is the first human interventional study in patients with Cowden syndrome that is driven by inactivation of germline PTEN gene. [9] In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex. [10] The combination of follicular thyroid carcinoma (FTC) and requirement of surgery for vascular malformation brought to mind the possibility of a diagnosis of Cowden syndrome/phosphatase and tensin homologue hamartoma tumour syndrome (CS/PHTS). [11] Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. [12] Most patients with Cowden syndrome have lesions in the gastrointestinal tract, characterized by multiple polyps of various histologic types in the large bowel, polyps in the upper gastrointestinal tract, and esophageal glycogenic acanthosis. [13] For example, germline PTEN mutations cause a subset of Cowden syndrome, but each component cancer belonging to this syndrome can be common in the general population or other differential diagnoses. [14] However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS). [15] A solitary tumor, as well as multifocal lesions, are found either sporadically, or associated with Cowden syndrome. [16]

multiple hamartoma syndrome

Because of the association of these two neoplasms, the possibility of Cowden Syndrome - multiple hamartoma syndrome - was raised, but was excluded by genetic analysis of PTEN gene. [1] Cowden syndrome (CS) is a multiple hamartoma syndrome associated with the development of various tumors, including endometrial cancer. [2] Cowden Syndrome, also referred to as Multiple Hamartoma Syndrome or PTEN Hamartoma Tumor syndrome (PHTS), is an autosomal dominant disorder with a broad clinical spectrum and wide degree of penetrance. [3] Because of the association of these two neoplasms, the possibility of Cowden Syndrome - multiple hamartoma syndrome - was raised, but was excluded by genetic analysis of PTEN gene. [4]

autism spectrum disorder

Germline mutation of PTEN is causally observed in Cowden syndrome (CS) and is one of the most common genetic causes of autism spectrum disorder (ASD). [1] Germline mutation of PTEN is causally observed in Cowden syndrome (CS) and is one of the most common, penetrant risk genes for autism spectrum disorder (ASD). [2] Germline heterozygous PTEN mutations cause subsets of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS); these subsets are characterized by high risks of breast, thyroid, and other cancers and, in one subset, autism spectrum disorder (ASD). [3] These disorders include Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, adult Lhermitte–Duclos disease, and autism spectrum disorders associated with macrocephaly. [4]

autosomal dominant disorder

Cowden Syndrome (CS) is an autosomal dominant disorder characterized by hamartomatous growth in several organs and by an increased risk of malignancies, which makes its recognition essential to undertake risk reduction measures. [1] Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomatous neoplasms in a variety of tissues and is associated with germline mutations in the PTEN gene. [2]