Unknown

Dataset Information

0

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.


ABSTRACT: Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and Proteus-like syndromes. Data to date suggest that irrespective of the clinical presentation, the identification of a PTEN mutation should trigger medical management which includes cancer surveillance. Clinic-based molecular diagnostic testing for germline PTEN mutations has been available for at least 2 years. This study reports on the finding of a previously unobserved heterozygous alteration (IVS7-15-->53del39) found in an African American individual who had features of CS. Further investigation revealed that 12 of 42 (28.6%) African American controls, but not individuals of Caucasian or Japanese origin, also carried this heterozygous 39-bp deletion in PTEN. Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN.

SUBMITTER: Zhou XP 

PROVIDER: S-EPMC1906990 | biostudies-literature | 2002 May

REPOSITORIES: biostudies-literature

altmetric image

Publications

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.

Zhou Xiao-Ping XP   Hampel Heather H   Roggenbuck Jennifer J   Saba Nabil N   Prior Thomas W TW   Eng Charis C  

The Journal of molecular diagnostics : JMD 20020501 2


Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and Proteus-like syndromes. Data to date suggest that irrespective of the clinical presentation, the identification of a PTEN mutation should trigger medical management which includes cancer surv  ...[more]

Similar Datasets

| S-EPMC3566822 | biostudies-literature
| S-EPMC4162346 | biostudies-literature
2020-03-27 | GSE147628 | GEO
| S-EPMC3950813 | biostudies-other
| S-EPMC5274596 | biostudies-literature
| S-EPMC2697596 | biostudies-literature
| S-EPMC3035981 | biostudies-literature
| S-EPMC3117222 | biostudies-literature
| S-EPMC5909790 | biostudies-other
2010-11-05 | GSE25140 | GEO