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. 2009 Sep;137(3):1183-6.
doi: 10.1053/j.gastro.2009.06.055. Epub 2009 Jul 25.

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer

Marc D Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Ayelet Borgida, Chaim Rosner, Nassim Taherian, Archana Srivastava, Spring Holter, Heidi Rothenmund, Parviz Ghadirian, William D Foulkes, Steven Gallinger

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer

Marc D Tischkowitz et al. Gastroenterology. 2009 Sep.
No abstract available

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Conflict of interest statement

Conflicts of interest

The authors disclose no conflicts.

Figures

Figure 1
Figure 1
(A) Pedigree of the proband (shown by arrow). PA, pancreatic cancer; BR, breast cancer. (B) MLPA showing deletion of exon 12 (161-bp fragment) and exon 3 (338-bp fragment). (C) Diagram of the deleted region showing the obligate core deletion as defined by the MLPA probes and the potential 5= and 3= limits of the deletion estimated from the observed size of the deleted region by long-range PCR (approximately 6.7–7.0 kb). 1F and 1R, forward and reverse primers for long-range fragment 1; 2F and 2R, forward and reverse primers for long-range fragment 2. (D) Long-range PCR, Lane 1, lambda molecular marker; lane 2, no DNA control; lane 3, wt control fragment 1 (expected size 13,141 bp); lane 4, patient fragment 1; lane 5, patient fragment 2; lane 6, wt control fragment 2 (expected size12,633 bp); lane 7, 1 kb molecular marker. Owing to low availability of native genomic DNA, long-range PCR for the patient was performed from whole-genome amplified (WGA) DNA. As a consequence, we expect amplification of large fragments by long-range PCR to be limited by the relative abundance of full-length copies of the region as generated by the WGA reaction. This may explain the absence of the wild-type allele (13 kb) in the patient, who was shown to be heterozygous for the exonic deletion by MLPA, and the correspondingly increased amplification efficiency of the smaller allele carrying the deletion (6 kb).
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