Trisomy 8 and 18 as frequent clonal and single-cell aberrations in 185 primary breast carcinomas

Rohen, Corina; Meyer-Bolte, K.; Bonk, U; Ebel, Thomas; Staats, Bettina; Leuschner, Elke; Gohla, Gabriela; Caselitz, J.; Bartnitzke, Sabine; Bullerdiek, Jörn

doi:10.1016/0165-4608(94)00164-7

Cited by 23 publications

(15 citation statements)

References 32 publications

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“…Previous studies of mutational events on chromosome 8 have identi®ed the presence of ampli®cation and reduplication, particularly in breast cancer (Dib et al, 1995;Rohen et al, 1995;A®fy et al, 1996;A®fy and Mark, 1997;Visscher et al, 1997). PCR analysis with microsatellite probes may not distinguish between cellular heterogeneity in the tumour and ampli®cation of a locus, as either will give rise to allelic imbalance.…”

Section: Discussionmentioning

confidence: 99%

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Two novel regions of interstitial deletion on chromosome 8p in colorectal cancer

et al. 1999

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We have investigated interstitial deletions of chromosome 8 in 70 colorectal carcinomas and 11 colonic adenomas using 11 microsatellite markers, including eight spanning the centromeric region of chromosome 8p (p11.2-p12). Allelic loss or imbalance was observed in 38 (54%) cancers and four (36%) adenomas. Twenty-eight (40%) of the cancers had deletions of 8p11.2-p12. Two distinct and independent regions of interstitial loss were found within this region. Fluorescent in situ hybridization, using an a satellite repeat probe to the centromere of 8p and two probes to the P1 region, was performed in four tumours that demonstrated allelic imbalance. Localized heterozygous deletions were con®rmed in all four tumours. Eleven (16%) cancers had localized deletion in the region ANK-1 to D8S255 (P1) and a further eleven (16%) cancers had a less well localized deletion in the region de®ned by the markers D8S87 to D8S259 (P2). Loss of both centromeric loci was identi®ed in a further six (9%) tumours. A functional signi®cance for these two deletion regions was sought by correlation with primary and secondary tumour characteristics. Isolated P2 deletion was associated with`early' T1 cancers (2p=0.0002), and were also identi®ed in 3/11 adenomas. Conversely, interstitial deletions of the P1 locus were more frequently seen in`locally invasive' T3/4 cancers (2p=0.015), and isolated P1 deletions were also associated with the presence of liver metastases (2p=0.016). Our data provide evidence of at least two genes within the 8p11.2-p12 region, mutations in which may confer di erent and independent roles in the pathogenesis of colorectal cancer.

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Section: Discussionmentioning

confidence: 99%

“…There is always uncertainty about whether allelic imbalance represents reduplication or deletion of a chromosome arm. As previous studies of breast tumours have suggested there may be reduplication of 8p (Rohen et al, 1995), we felt this required clearer evaluation in our tumours.…”

Section: Frequency Of Allelic Imbalancementioning

confidence: 98%

Two novel regions of interstitial deletion on chromosome 8p in colorectal cancer

et al. 1999

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“…Trisomy of chromosome 8, detected in 4/15 invasive ductal carcinomas, has been found by other authors in studies on the same type of pathology (BULLERDIEK et al 1993;ROHEN et al 1995). BULLERDIEK et al (1993) reported trisomy 8 in 2 of 16 cases which presented lymph node involvement and were positive for estrogen and progesterone receptors.…”

Section: Discussionmentioning

confidence: 63%

“…Differences were detected in the karyotypic profile according to the cell culture method used. However, the chromosomes more frequently involved regardless of the methods used, were chromosomes 1, 6, 8, 1 1, 3, 7, 16, 17, and 18, which are reported in the majority of cytogenetic studies on breast tumors (TRENT 1985;HILL et al 1987;DUTRILLAUX et al 1990;HAINSWORTH and GARSON 1990;MITCHELL and SANTIBANEZ-KOREF 1990;BULLERDIEK et al 1993;Lu et al 1993;PANDIS et al 1993PANDIS et al , 1995THOMPSON et al 1993;TRENT et al 1993;ROHEN et al 1995;STEINARSD~TTIR et al 1995). In the present study, we found the nonrandom involvement of the same chromosomes as described above in addition to abnormalities involving chromosomes X, 19, 20, and 22.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic Evaluation of 20 Primary Breast Carcinomas

et al. 2004

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Chromosome analysis was performed on samples from 20 Brazilian patients with breast cancer. All the samples were from untreated patients who presented the clinical symptoms for months or years before surgical intervention. Six cases showed axillary lymph node metastases. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently observed involved the loss of chromosomes X, 19, 20, and 22 followed by gain of chromosomes 9 and 8. Among the structural anomalies observed, there was preferential involvement of chromosomes 11, 6, I , 7, 3, and 12, supporting previous reports that these chromosomes may harbour genes of importance in the development of breast tumors. Two cases with a family history of breast cancer had in common total or partial trisomy 1.

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“…There are various studies where chromosomal changes were seen as an important feature responsible for this cancer (Cruciger et al 1976, Pathak 1980, Gebhart et al 1986, Pandis et al 1993, Thompson et al 1993, Hainsworth et al 1991, Rohen et al 1995 and also some form of genetics instability of an individual might be a predisposing factor (Atkin 1976, German 1974.…”

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confidence: 99%