PARP inhibition: targeting the Achilles' heel of DNA repair..PARP inhibition: targeting the Achilles' heel of DNA repair to treat germline and sporadic ovarian cancers

PLoS ONE: Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G)

Conclusions/Significance

Here, we confirm the specificity of the FOXL2 c.402C>G mutation in adult OGCTs and begin the exploration of its molecular significance. This is the first study demonstrating that the p.Cys134Trp mutant does not have a strong impact on FOXL2 localization, solubility, and transactivation abilities on a panel of proven target promoters, behaving neither as a dominant-negative nor as a loss-of-function mutation. Further studies are required to understand the specific molecular effects of this outstanding FOXL2 mutation.

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

"We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement (BRCA2 c.156_157insAlu)."

Abstract / full free text: Expression signatures of TP53 mutations in serous ovarian cancers

Conclusions This represents the first attempt to define a genomic signature of TP53 mutation in ovarian cancer. Patterns of gene expression characteristic of TP53 mutation could be discerned and included several genes that are known p53 targets or have been described in the context of expression signatures of TP53 mutation in breast cancer.

Gene link to cancer risk in families - protein RAD51C (news item) breast and ovarian

Note: this report is worthwhile reading especially for those who test negative for BRCA 1/2

"No significant mutations were found in RAD51C in the 620 families with breast cancer only.  However, when they looked at the breast and ovarian cancer families, things got really interesting.  In all, they were able to identify a total of 6 mutations in the 480 families that had sufficient evidence to implicate them in the breast and ovarian cancer susceptibility.  Thus, in this German study of women with unexplained familial breast and ovarian cancer, the cancer susceptibility in 1.3% of the families could be explained by heterozygous mutations in the RAD51C gene."

Mutations in gene protecting body leads to development of cancer

Note: the PTEN mutation has and is being widely studied in ovarian cancer

"The study examined mutations in a gene called PTEN. People who inherit a mutated copy of this gene have Cowden syndrome, a condition that carries a high risk of cancer in a number of organs, including the breast, thyroid and ovary. In addition, PTEN is frequently mutated in normal body cells leading to prostate, lung and pancreatic cancers."