Fanconi anaemia (FA) is an inherited condition characterised by congenital and 
developmental abnormalities and a strong cancer predisposition. In around 3-5% 
of cases FA is caused by biallelic mutations in the BRCA2 gene. Individuals 
heterozygous for BRCA2 mutations have an increased risk of inherited breast and 
ovarian cancer. We reviewed the mutation spectrum in BRCA2-associated FA, and 
the spectrum and frequency of BRCA2 mutations in distinct populations. The 
rarity of FA due to biallelic BRCA2 mutations supports a fundamental role of 
BRCA2 for prevention of malignant transformation during development. The 
spectrum of malignancies seen associated with FA support the concept of a tissue 
selectivity of BRCA2 mutations for development of FA-associated cancers. This 
specificity is illustrated by the distinct FA-associated BRCA2 mutations that 
appear to predispose to specific brain or haematological malignancies. For some 
populations, the number of FA-patients with biallelic BRCA2 disruption is 
smaller than that expected from the carrier frequency, and this implies that 
some pregnancies with biallelic BRCA2 mutations do not go to term. The apparent 
discrepancy between expected and observed incidence of BRCA2 mutation-associated 
FA in high-frequency carrier populations has important implications for the 
genetic counselling of couples with recurrent miscarriages from high-risk 
populations.