website: European Action Against Rare Cancers

summary: Targeted therapies for rare gynaecological cancers : The Lancet Oncology

"Some gynaecological cancers are uncommon, such as sex cord-stromal tumours, malignant germ-cell tumours, vulvar carcinoma, melanoma of the female genital tract, clear-cell carcinoma of the ovary and endometrium, neuroendocrine tumours of the cervix, and gestational trophoblastic neoplasia. All these cancers have different clinicopathological characteristics, suggesting different molecular biological pathogeneses. Despite aggressive treatment, some cancers recur or respond poorly to therapy. Comprehensive knowledge of the molecular biology of each cancer might help with development of novel treatments that maximise efficacy and minimise toxic effects. Targeted therapy is a new treatment strategy that has been investigated in various tumours in clinical and laboratory settings. Since these cancers are rare and large clinical trials are difficult to do, molecular biological techniques might allow rapid proof-of-principle experiments in few patients. Novel targeted agents either alone or in combination with other treatments offer promising therapeutic options."

PLoS Genetics: Use of DNA–Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients

definition: heterogeneous - the quality of being diverse and not comparable in kind

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"A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2. Laboratory
methods to identify which of these variants are mutations would have utility for counseling and clinical decision making when identified in patients with a family history of
breast cancer."

Rare ovarian tumours: therapeutic strategies in 2010, national website observatory for rare ovarian cancers and delineation of referent centers-France

Note: ignore the small spelling errors in the article as it was translated from French to English

Exons: Researchers Sequence 'Exomes' Of New Strategy For Finding Disease Genes

"....demonstrated the feasibility and value of a new strategy for identifying relatively rare genetic variants that may cause or contribute to disease....The new strategy involves isolating and sequencing all exons which are the parts of the human genome that contain the information needed to produce proteins, the building blocks of the body. The complete set of exons – referred to as the "exome" – makes up only one percent of the human genome. By selecting only the exome to sequence, the important information about an individual can be obtained at a much lower cost than sequencing a person's entire genome."