Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2

Male breast cancer (MBC) affects around 1 in 1000 men and is known to have a higher underlying cause from high and moderate risk gene pathogenic variants (PV) than female breast cancer, particularly in BRCA2. However, most studies only report overall detection rates without assessing detailed family history. We reviewed genetic testing in 204 families including at least one MBC BRCA2 was the major contributor with 51 (25%) having PVs, followed by BRCA1 and CHEK2 with five each (2.45%), but no additional PVs identified, including in families even high genetic likelihood on Manchester scoring in the additional genes tested. (By Professor Evans Gareth, https://jmg.bmj.com/content/early/2024/04/12/jmg-2023-109826 )

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