Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis Eric D. Lynch, Elizabeth A. Ostermeyer, Ming.

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Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis Eric D. Lynch, Elizabeth A. Ostermeyer, Ming K. Lee, J. Fernando Arena, HanLee Ji, Jamie Dann, Karen Swisshelm, David Suchard, Patrick M. MacLeod, Stener Kvinnsland, Bjorn Tore Gjertsen, Ketil Heimdal, Herb Lubs, Pål Møller, Mary-Claire King The American Journal of Human Genetics Volume 61, Issue 6, Pages 1254-1260 (December 1997) DOI: 10.1086/301639 Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 1 Cancers and noninvasive lesions in families with PTEN germ-line mutations. Symbols are divided into segments on the basis of organ site, with blackened quadrants representing cancers and with gray-shaded quadrants representing noninvasive tumors. PTEN mutations are indicated above each family, and the heterozygous variant (VN) or homozygous normal (NN) genotype for each tested individual is shown below the symbol representing that individual. Haplotypes comprising five markers flanking PTEN are shown for families 227 and 241, to demonstrate the independence of the 1003 C→T mutation. PTEN genotypes and marker haplotypes for family 97 indicate that the PTEN mutation in the daughter is de novo. The American Journal of Human Genetics 1997 61, 1254-1260DOI: (10.1086/301639) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 2 PTEN sequences from genomic DNA (gDNA), tumor DNA, and constitutional cDNA, from families with inherited mutations in this tumor-suppressor gene. Heterozygosity for inherited mutations in genomic DNA is illustrated for probands from seven families. Sequences may be either sense or antisense; mutations are indicated for the sense strand. Sequence “22701-tumor” reflects hemizygosity for the mutant PTEN allele in DNA from the renal-cell carcinoma of patient 22701. Sequences “24101 cDNA,” “1163.1 cDNA,” and “9701 cDNA” reflect the presence of only the wild-type transcript in normal cells from individuals with mutations, consistent with instability of the mutant transcripts. Sequences of genomic DNA from 9702 and 9703, parents of 9701, are homozygous normal, indicating that the mutation in individual 9701 is de novo. The American Journal of Human Genetics 1997 61, 1254-1260DOI: (10.1086/301639) Copyright © 1997 The American Society of Human Genetics Terms and Conditions