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Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline

2022; Elsevier BV; Volume: 34; Issue: 1 Linguagem: Inglês

10.1016/j.annonc.2022.10.004

1569-8041

Cristiana Sessa, Judith Balmañà, Sharon L. Bober, Maria João Cardoso, N. Colombo, Giuseppe Curigliano, Susan M. Domchek, D. Gareth Evans, D. Fischerová, Nadia Harbeck, Christiane Kühl, Birthe Lemley, Ephrat Levy‐Lahad, Matteo Lambertini, Jonathan A. Ledermann, Sibylle Loibl, Kelly‐Anne Phillips, Shani Paluch‐Shimon,

Genetic factors in colorectal cancer

Hereditary breast and ovarian cancer syndrome (HBOC) is clinically defined by family history criteria, and molecularly defined by identification of germline pathogenic variants (PVs) in clinically validated HBOC genes.1 These genes are broadly classified as high-risk genes, increasing breast and/or tubo-ovarian cancer risk by at least fourfold, and moderate-risk genes, increasing risk by two- to fourfold (Table 1). There is a large overlap between clinical and molecular HBOC, i.e. individuals with both family history and a PV.