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A great example of an MPhil thesis turned to a publication by Carmen Petitjean, whom I had the pleasure of supervising, now a PhD student in the department.

Multifactorial risk assessment for carriers of pathogenic variants (PV) in breast cancer susceptibility genes may help identify “near-population” PV carriers which and may influence clinical management decisions.

Compared to considering only family history and reproductive, hormonal and lifestyle factors, incorporating all risk factors can better define the populations at different levels of breast cancer risk.

When assessing each risk factor individually, the PRS contributed most to the breast cancer risk stratification in the population.

The full model was well calibrated overall, and in predicting risks for women in different levels of risk and in different age groups.

Discriminative ability was maximized under the full multifactorial model and was similar in women younger or older than 50 years.

The model considered information on the polygenic score, questionnaire-based risk factors, pathogenic risk variants in 8 breast cancer risk susceptibility genes and cancer family history.