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Figure 2 | Human Genomics

Figure 2

From: Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer

Figure 2

Sequencing confirmed the exome calls and demonstrated loss of the variant alleles in matched tumors. (A) ATM c.C1931A in the proband of family 1. (B) ATM c.C1931A in tumor of the proband of family 1, demonstrating loss of the variant allele. (C) Wild-type ATM c.C1931A in the brother with PC of the proband of family 1. (D) PALB2 c.C3256T in the proband of family 2. (E) PALB2 c.C3256T in the tumor from the proband of family 2, demonstrating loss of the variant allele. (F) Wild-type PALB2 c.C3256T in the cousin with PC of the proband of family 2.

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Human Genomics

ISSN: 1479-7364