Gynaecologic Cancers
Gynaecologic oncology covers ovarian, endometrial, cervical, vulvar and vaginal cancer. Germline and molecular assessment has become central in several of these diseases.
Disease categories
Major disease categories
- Ovarian cancer
- Endometrial cancer
- Cervical cancer
- Vulvar and vaginal cancer
- Gestational trophoblastic disease
Molecular
Molecular considerations
Homologous recombination status in ovarian cancer and molecular classification in endometrial cancer are the two most consequential developments in this group.
Markers commonly discussed in gynaecologic cancers
- BRCA1/2
- HRD status
- MMR / MSI
- POLE
- p53
- HPV status
- HER2
Not exhaustive, and not every marker is assessed in every patient. Which of these is relevant depends on the individual case and should be discussed with the treating team.
Testing
Genomic testing considerations
Disease-directed molecular testing, with germline assessment prominent in ovarian cancer.
Germline
Germline considerations
Germline testing is widely discussed in epithelial ovarian cancer; mismatch repair deficiency in endometrial cancer raises Lynch syndrome.
Molecular monitoring
ctDNA and liquid biopsy considerations
Under study across the group.
Single-cell & computation
Single-cell and algorithmic approaches
Single-cell analysis in gynaecological cancer is applied to clonal structure at relapse, where the question is whether resistant disease was present from the outset or emerged under treatment. Single-cell DNA sequencing can identify reversion events in a subpopulation before they are detectable in bulk. Algorithmic work includes homologous recombination deficiency scoring from sequencing data, mutational signature analysis, and molecular classification pipelines.
Decisions
Treatment decision questions
Questions worth raising with a treating team when a decision is being made:
- Is the primary site and histological subtype secure?
- Has germline testing been discussed where relevant?
- Has molecular classification been performed in endometrial cancer?
Resistance
Resistance and recurrence questions
- Has the molecular profile been reassessed at recurrence?
Trials
Clinical trial considerations
Molecular class and homologous recombination status shape eligibility.
When a precision oncology review may help
A review is most useful where the standard pathway has been exhausted or where the picture is more complicated than a protocol accounts for — rare presentations, treatment resistance, complex or apparently contradictory molecular findings, or a decision between several defensible options.
The output is a structured analysis and a set of questions for the treating team. It is not treatment, and it does not replace the treating oncologist.