Can TP53 or PTEN mutations be found in ovarian cancer samples?

Yes, TP53 and PTEN mutations can be found in ovarian cancer samples. These are genetic changes that can drive cancer growth. A retrospective study detected TP53 mutations in 68% and PTEN mutations in 47% of ovarian and endometrial cancer samples ³. These mutations are also recognized in clinical guidelines for hereditary cancer risk assessment ⁹.

What the research says

A retrospective multicenter study of 238 women (127 with ovarian or endometrial cancer, 111 benign controls) found TP53 mutations in 68% and PTEN mutations in 47% of cancer samples ³. The study used targeted sequencing of cervicovaginal swabs, suggesting a non-invasive way to detect these mutations ³.

Clinical guidelines from the National Comprehensive Cancer Network (NCCN) include TP53 and PTEN among genes tested for hereditary breast, ovarian, and pancreatic cancer risk ⁹. This means these mutations are considered important for assessing inherited cancer susceptibility.

Other research has also looked at TP53 and PTEN in hereditary breast and ovarian cancer. One study of 1338 BRCA-negative Chinese patients tested for TP53 and PTEN mutations as part of a multigene panel, indicating these genes are routinely included in genetic testing for high-risk individuals ¹¹. Another study sequenced 20 genes, including TP53 and PTEN, in patients lacking BRCA mutations, finding many variants that may affect cancer risk ¹⁰.

What to ask your doctor

• Should I have genetic testing for TP53 and PTEN mutations if I have ovarian cancer?
• What do TP53 or PTEN mutations mean for my treatment options or prognosis?
• If I have a TP53 or PTEN mutation, does it affect my family members' cancer risk?
• Are there any clinical trials or targeted therapies available for ovarian cancers with these mutations?
• How often are TP53 and PTEN mutations found in ovarian cancer compared to other genetic changes?