Recent consolidated efforts including (i) those of the PALB2 Interest Group that estimated the relative risk for ovarian cancer to be 2.31 (95% CI, 0.77–6.97; p = 0.18), (ii) the assessment of two protein truncating mutations PALB2 :c.1592delT; p.L531Cfs and PALB2 :c.3113G > A;p.W1038* on iCOGS (OR 2.50, 95% CI, 0.21–29.1, p = 0.45 and OR 1.34, 95% CI, 0.36–4.97, p = 0.66, respectively) and (iii) a study of PALB2 :c.509_510delGA and PALB2 :c.172_175delTTGT in 344 Polish families with breast and ovarian cancer (OR 1.37, 95% CI, 0.17–10.7, p = 0.54) all failed to reach statistical significance [ 3 – 5 ].
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Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
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