Page last updated: 2024-11-08

serine and Hamartoma Syndrome, Multiple

serine has been researched along with Hamartoma Syndrome, Multiple in 1 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Hamartoma Syndrome, Multiple: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

Research Excerpts

ExcerptRelevanceReference
"Cowden's syndrome is a rare autosomal dominant disorder that has been linked to germline mutations in the phosphatase and TENsin homolog (PTEN) gene."1.39Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L. ( Boespflug, A; Bringuier, PP; Couraud, S; Durieu, I; Edery, P; Gérinière, L; Isaac, S; Perrot, E; Souquet, PJ, 2013)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Boespflug, A1
Couraud, S1
Bringuier, PP1
Isaac, S1
Gérinière, L1
Perrot, E1
Edery, P1
Durieu, I1
Souquet, PJ1

Other Studies

1 other study available for serine and Hamartoma Syndrome, Multiple

ArticleYear
Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L.
    Lung cancer (Amsterdam, Netherlands), 2013, Volume: 79, Issue:3

    Topics: Adenocarcinoma; Adult; Chromosome Disorders; Diagnosis, Differential; DNA Mutational Analysis; ErbB

2013