FALLOPIAN TUBE CARCINOMA
This cancer was considered to be extremely rare, and in women not carrying BRCA1/2 mutations, this is still the case. Over the last decade, however, increasingly persuasive data have been produced to suggest that a significant proportion of high-grade serous carcinomas (HGSC), apparently arising in the ovary, actually have arisen from the fallopian tube (Colgan et al. 2001; Crum et al. 2007; Crum et al. 2012; Piek et al. 2001; Piek et al. 2008). The risk for fallopian tube cancer per se is clearly increased in BRCA1/2 mutation carriers (Zweemer et al. 2000; Rutter et al. 2003), and up to 40 % of women with fallopian tube cancer carry BRCA1/2 mutations (Vicus et al. 2010). It has even been suggested that perhaps distal salpingectomy in both average and higher-risk women might be a way to prevent HGSC (Tone et al. 2012). Fallopian tube carcinoma has also been reported in Lynch syndrome (Palma et al. 2008), but is very rare. In a recent next-generation sequencing study of 12 DNA repair-related cancer genes, of 31 patients with fallopian tube carcinoma, clearly deleterious mutations were seen in BRCA1 in seven cases, in BRCA2 in two cases, in BARD1 in one case, and an unusual mosaic de novo missense mutation was seen in one case (Walsh et al. 2011). These findings suggest that exome sequencing, or panel-based screening for multiple genes, may soon replace the current labor-intensive and costly
“gene-by-gene” approach (Table1).
Table 1 Genetic disorders associated with ovarian neoplasms