Cowden syndrome PTEN

Cowden syndrome
a) P53
c) Rb
d) Ras
Correct Answer - B
Answer: B. PTEN
“Phosphatase and Tensin” homolog (PTEN)- protein in humans
encoded by the PTEN gene. Gene mutations promotes development
of cancers.
Cowden’s disease / Multiple Hamartoma Syndrome -
Part of PTEN hamartoma tumor syndrome
An autosomal dominant syndrome
Trichilemmomas - Numerous tumors of hair follicles in face
Multiple hamartomatous polyps in GI tract.
Very high risk of breast & thyroid carcinoma
B/L mastectomies recommended
Contraindicated are mammography & other radiation exposure of
breast tissue