Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PTEN, encoding a dual phosphatase tumor suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS), respectively.
|
16014636 |
2005 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, germline mutation of PTEN leads to the development of the related hereditary cancer predisposition syndromes, Cowden disease, and Bannayan-Zonana syndrome, wherein breast and thyroid cancer incidence is elevated.
|
15254063 |
2004 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cowden's disease (CD) and Bannayan-Ruvalcaba-Riley syndrome (BRRS) are allelic disorders characterized by multiple hamartomatous overgrowths of the thyroid, breast, skin, and gastrointestinal tract, and an increased risk of developing benign and malignant tumors of the breast and thyroid gland, secondary to germline point mutations in the PTEN gene.
|
15067177 |
2004 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pooled analysis of PTEN mutation series of CS and BRRS occurring in the last five years reveals that 65% of CS-associated mutations occur in the first five exons encoding the phosphatase domain and the promoter region, while 60% of BRRS-associated mutations occur in the 3' four exons encoding mainly the C2 domain.
|
12938083 |
2003 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we review the PTEN mutation positive BRRS cases, to further delineate the phenotype and to compare the cases with a genomic deletion with the cases with a point mutation.
|
14574156 |
2003 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using real time and multiplex PCR techniques, we identified three germline hemizygous PTEN deletions in 122 apparently mutation-negative patients with classic CS (N=95) or BRRS (N=27).
|
12844284 |
2003 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Furthermore, we review the PTEN mutation positive BRRS cases, to further delineate the phenotype and to compare the cases with a genomic deletion with the cases with a point mutation.
|
14574156 |
2003 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease, Bannayan-Zonana syndrome and Lhermitte-Duclos disease.
|
12655146 |
2003 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in PTEN, encoding a tumor suppressor phosphatase on 10q23.3, is associated with 80% of CS and 60% of BRRS.
|
14518069 |
2003 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that PTEN does not play a major role in predisposing to hereditary breast cancer in Israeli women, and that detection of PTEN mutations in BRRS patients is more likely in familial cases.
|
12372056 |
2002 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
|
12471211 |
2002 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of PTEN predispose to dominantly inherited hamartomatous disorders Cowden syndrome and Bannayan-Zonana syndrome.
|
11891178 |
2002 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumor syndromes with an increased risk of breast, thyroid and endometrial cancers.
|
11854177 |
2002 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
PTEN mutation in a family with Cowden syndrome and autism.
|
11496368 |
2001 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in PTEN, which encode a dual-specificity phosphatase, have been implicated in at least two hamartoma tumor syndromes that exhibit some clinical overlap, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
|
11395387 |
2001 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease.
|
11685670 |
2001 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome.
|
11174374 |
2001 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes.
|
11476841 |
2001 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurring neoplasia.
|
11748304 |
2001 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurring neoplasia.
|
11748304 |
2001 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia.
|
10749983 |
2000 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in PTEN, that encodes a dual-specificity phosphatase, have been implicated in two hamartoma-tumor syndromes that exhibit some clinical overlap, Cowden syndrome and Bannayan-Zonana syndrome.
|
10959096 |
2000 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations in PTEN are associated with JPS in addition to CD and some BRRS families, although the incidence of PTEN germ-line mutations in JPS might be more rare than that reported for SMAD4, a gene found to be mutated in approximately one-half of the JPS families investigated.
|
11156385 |
2000 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
|
10353779 |
1999 |
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations of phosphatase and tensin homolog, deleted on chromosome ten (PTEN) are found in two inherited hamartoma tumor syndromes: Cowden syndrome, which has a high risk of breast, thyroid, and other cancers; and Bannayan-Zonana syndrome, a related disorder.
|
10582703 |
1999 |