Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400

Alterations of certain genes may place women at increased risk of developing a subtype of breast cancer not expressing hormone receptors, triple negative breast cancer (TNBC). We undertook a review of the gene alterations seen in women in Manchester with TNBC and showed there is an increased risk of developing TNBC where there is an alteration of the BRCA1, BRCA2, PALB2, or RAD51D genes, but not with alterations of the CHEK2 or ATM genes. This knowledge will help in treatment and cancer prevention/early detection strategies for women with an alteration in one of these genes. (By Emma R Woodward, https://jmg.bmj.com/content/early/2023/12/16/jmg-2023-109671 )

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