UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

Pathogenic variants in RAD51C, RAD51D, BRIP1 are established ovarian cancer predisposition genes. PALB2 is firmly recognised as a breast cancer predisposition gene and more recently associated with ovarian cancer.  An association of RAD51C and RAD51D with breast cancer predisposition was recently confirmed. Whilst improved cancer risks estimates for these genes are available, to date no UK clinical management guidelines for gene carriers have been published. With expansion of genetic testing, a clinical need for such guidelines was recognised. The UK Cancer Genetics Group in collaboration with the CanGene-CanVar project convened a two-day national consensus meeting with relevant experts and stakeholders to reach agreement on consistent clinical management of breast and ovarian cancer risk, particularly with respect to appropriateness and timing of risk-reducing gynaecological surgery, breast surveillance and risk reducing mastectomy. This paper presents a summary of the processes used to reach and agree consensus, as well as the key recommendations from the meeting. (By Dr Helen Hanson, https://jmg.bmj.com/content/early/2022/11/21/jmg-2022-108898 )

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