Id |
Subject |
Object |
Predicate |
Lexical cue |
TextSentencer_T1 |
0-105 |
Sentence |
denotes |
A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer. |
TextSentencer_T2 |
106-270 |
Sentence |
denotes |
Cowden syndrome (CS), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with a high risk of breast and thyroid cancers. |
TextSentencer_T3 |
271-543 |
Sentence |
denotes |
The phosphatase and tensin homolog gene (PTEN) encodes a lipid phosphatase that contains a PTPase domain and a C2 domain and plays a role as a tumor suppressor that negatively regulates the cell-survival signaling pathway initiated by phosphatidylinositol 3-kinase (PI3K). |
TextSentencer_T4 |
544-635 |
Sentence |
denotes |
PTEN inhibits angiogenesis, and germline mutations of the PTEN gene are associated with CS. |
TextSentencer_T5 |
636-722 |
Sentence |
denotes |
We screened for mutations in the PTEN gene in two unrelated Japanese patients with CS. |
TextSentencer_T6 |
723-903 |
Sentence |
denotes |
In one patient, who suffered from bilateral breast cancer, thyroid adenoma, and gastric malignant lymphoma, we found a single-base substitution in exon 2 (115G>C) of the PTEN gene. |
TextSentencer_T7 |
904-969 |
Sentence |
denotes |
This transversion results in a germline missense mutation (A39P). |
TextSentencer_T8 |
970-1157 |
Sentence |
denotes |
To date, nine different mutations have been identified in exon 2 of the PTEN gene in patients with CS and variant CS; however, the A39P missense mutation has not been reported previously. |
TextSentencer_T9 |
1158-1243 |
Sentence |
denotes |
We also detected a previously reported nonsense mutation, 697C>T, resulting in R233X. |
T1 |
0-105 |
Sentence |
denotes |
A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer. |
T2 |
106-270 |
Sentence |
denotes |
Cowden syndrome (CS), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with a high risk of breast and thyroid cancers. |
T3 |
271-543 |
Sentence |
denotes |
The phosphatase and tensin homolog gene (PTEN) encodes a lipid phosphatase that contains a PTPase domain and a C2 domain and plays a role as a tumor suppressor that negatively regulates the cell-survival signaling pathway initiated by phosphatidylinositol 3-kinase (PI3K). |
T4 |
544-635 |
Sentence |
denotes |
PTEN inhibits angiogenesis, and germline mutations of the PTEN gene are associated with CS. |
T5 |
636-722 |
Sentence |
denotes |
We screened for mutations in the PTEN gene in two unrelated Japanese patients with CS. |
T6 |
723-903 |
Sentence |
denotes |
In one patient, who suffered from bilateral breast cancer, thyroid adenoma, and gastric malignant lymphoma, we found a single-base substitution in exon 2 (115G>C) of the PTEN gene. |
T7 |
904-969 |
Sentence |
denotes |
This transversion results in a germline missense mutation (A39P). |
T8 |
970-1157 |
Sentence |
denotes |
To date, nine different mutations have been identified in exon 2 of the PTEN gene in patients with CS and variant CS; however, the A39P missense mutation has not been reported previously. |
T9 |
1158-1243 |
Sentence |
denotes |
We also detected a previously reported nonsense mutation, 697C>T, resulting in R233X. |