Skip to main content

Table 1 Details of rare gene variants

From: BRCA1 and BRCA2 mutations in a population-based study of male breast cancer

      Family history (age at diagnosis)
Patient Gene Variant Effect Age* First-degree relatives Second-degree relatives
Protein truncating mutations
   M0271 BRCA2 253delC Frameshift 48 None MGM Br(?age)
   M0041 BRCA2 2192delC Frameshift 55 F Pa(74) PU Pa(42), PA Br(48), PA Pa(63)
   M0040 BRCA2 5974delCT Frameshift 60 F Pr(61) None
   M0293 BRCA2 7928delCT Frameshift 69 M Br(67) None
   M0238 BRCA2 8474delAG Frameshift 62 F Pr + Ki(75) None
Missense variants of unknown significance
   M0383 BRCA1 2640C > T R841W 63 None None
   M0016 BRCA2 5972T > C T1915M 74 F HN(85), B Lu(50's) None
   M0021 BRCA2 5972T > C T1915M 72 None None
   M0288 BRCA2 4486G > T D1420Y 55 M Br(77) None
  1. *Age at diagnosis (years). F, father; M, mother; B, brother; MGM, maternal grandmother; PU, paternal uncle; PA, paternal aunt; Br, breast cancer; HN, head and neck; Ki, kidney cancer; Lu, lung cancer; Pa, pancreatic cancer; Pr, prostate cancer.