DNA copy number losses in human neoplasms

Sakari Knuutila, Yan Aalto, Kirsi Autio, Anna Maria Björkqvist, Wa'el El-Rifai, Samuli Hemmer, Tarja Huhta, Eeva Kettunen, Sonja Kiuru-Kuhlefelt, Marcelo L. Larramendy, Tamara Lushnikova, Outi Monni, Heini Pere, Johanna Tapper, Maija Tarkkanen, Asta Varis, Veli Matti Wasenius, Maija Wolf, Ying Zhu

Research output: Contribution to journalReview articlepeer-review

352 Scopus citations


This review summarizes reports of recurrent DNA sequence copy number losses in human neoplasms detected by comparative genomic hybridization. Recurrent losses that affect each of the chromosome arms in 73 tumor types are tabulated from 169 reports. The tables are available online at http://www.amjpathol.org and http://www.helsinki.fi/~1g1-www/CMG.html. The genes relevant to the lost regions are discussed for each of the chromosomes. The review is supplemented also by a list of known and putative tumor suppressor genes and DNA repair genes (see Table 1, online). Losses are found in all chromosome arms, but they seem to be relatively rare at 1q, 2p, 3q, 5p, 6p, 7p, 7q, 8q, 12p, and 20q. Losses and their minimal common overlapping areas that were present in a great proportion of the 73 tumor entities reported in Table 2 (see online) are (in descending order of frequency): 9p23-p24 (48%), 13q21 (47%), 6q16 (44%), 6q26-q27 (44%), 8p23 (37%), 18q22- q23 (37%), 17p12-p13 (34%), 1p36.1 (34%), 11q23 (33%), 1p22 (32%), 4q32-qter (31%), 14q22q23 (25%), 10q23 (25%), 10q25-qter (25%), 15q21 (23%), 16q22 (23%), 5q21 (23%), 3p12-p14 (22%), 22q12 (22%), Xp21 (21%), Xq21 (21%), and 10p12 (20%). The frequency of losses at chromosomes 7 and 20 was less than 10% in all tumors. The chromosomal regions in which the most frequent losses are found implicate locations of essential tumor suppressor genes and DNA repair genes that may be involved in the pathogenesis of several tumor types.

Original languageEnglish (US)
Pages (from-to)683-694
Number of pages12
JournalAmerican Journal of Pathology
Issue number3
StatePublished - Sep 1999
Externally publishedYes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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