PMC3913476_01
Pedigree analysis of a family affected by hereditary prostate cancer. The proband (III-1, arrow) presented to his physician owing to concerns regarding his family history. Genetic testing was performed to elucidiate carrier status for the BRCA2 gene founder mutation, c.5857G>T (pGlu1953*). The carrier status of the individuals who were tested is indicated as +/- and -/-, for carriers and non-carriers (wild type), respectively. Blood and tissue samples were not available for genetic testing in individuals II-7 and III-2; however their carrier status was inferred from the information provided by the pedigree (and indicated as (+/-)). For the affected individuals, the age at diagnosis is indicated next to the type f cancer. The 'current' age (at the time when this pedigree was obtain in 2009) or the age at death is indicated in parenthesis.
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F1
His family history (Figure 1) was remarkable for early-onset prostate cancer in three brothers and his father (individuals III-2, III-4, III-6, and II-7 in Figure 1) and late-onset prostate cancer in two brothers and two paternal uncles (individuals III-3, III-5, II-1 and II-3 in Figure 1). Two months later, genetic testing was offered to the proband's living siblings (III-3 to III-10), nephews (IV-1 to IV-3) and cousins (III-12 and III-18 on Figure 1).
Histology of prostate tissue that harbors the familial BRCA2 mutation (from individual III-6). (A) Haematoxylin and eosin stain of formalin-fixed paraffin embedded tissue obtained from the proband's radical prostatectomy reveals Gleason score 6 (3+3) characterised by individual small-sized glands infiltrating between benign glands. (B) Avidin-biotin immunoperoxidase staining shows overexpression of the ERG nuclear oncoprotein in nuclei of nearly all tumour cells.
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F2
Figure 2 shows nuclear staining for ERG in a prostate specimen from individual III-6.