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. Author manuscript; available in PMC: 2018 Dec 11.
Published in final edited form as: Horm Cancer. 2013 May 29;4(5):301–307. doi: 10.1007/s12672-013-0147-9

Table 1.

Mutation summary

Patient Age Gene Protein Nucleotide affected Amino acid change Somatic/germline LOH Evidence for pathogenicity
1 82 CDKN1A p21 c.350G>A Cys117Tyr Germline No genetic
2 64 CDKN1A p21 c.26G>A Arg9His ND No Cytoplasmic accumulation/abnormal migration and genetic
3 69 CDKN2B p15 c.256G>A Asp86Asn Germline Yesa Impaired CDK6 binding and genetic
4 60 CDKN2C p18 c.62 T>A Leu21His Somatic No Impaired CDK6 binding, abnormal migration and genetic
5 53 CDKN2C p18 c.494C>T Thr165Ile Germline Yesb genetic
a

LOH within and surrounding the CDKN2B gene was established using microsatellite markers D9S157, D9S171, and D9S1853 and direct DNA sequencing

b

LOH within and surrounding the CDKN2C gene was established using microsatellite markers D1S507 and D1S2664, and direct DNA sequencing