Loss of heterozygosity on chromosome 17q11-21 in cancers of women who have both breast and ovarian cancer

Schildkraut, Joellen M.; Collins, N. Keith; Dent, Georgette A.; Tucker, Jacqueline; Barrett, J. Carl; Berchuck, Andrew; Boyd, Jeff

doi:10.1016/0002-9378(95)90020-9

Cited by 19 publications

(5 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Specific information on the dose, frequency, duration, and procedure was not collected, but would enhance the analysis of the effect of treatment in future studies. Additionally, information on tumor grade was missing for a large number of cancers and we were unable to control for its potential confounding effect [31].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Age at diagnosis and multiple primary cancers of the breast and ovary

Suris-Swartz

Schildkraut

Vine

et al. 1996

Breast Cancer Res Tr

Self Cite

View full text Add to dashboard Cite

This nested case-control study assessed the relationship between a woman's age at the time of her initial primary breast or ovarian cancer diagnosis and the risk of a second primary cancer at the other of these two sites. Multiple primary breast and ovarian cancer cases whose initial breast or ovarian diagnosis occurred in 1970-1989 and a random sample of single primary breast or ovarian cancer controls diagnosed in the same years were identified through tumor registries at Duke University Medical Center and the University of North Carolina. Women diagnosed with an initial primary breast cancer at age < or = 50 years were 4.3 times (95% CI: 1.8-10.6) more likely to have developed a subsequent ovarian cancer compared to those diagnosed after age 50. A relationship between an early age at diagnosis (< or = 50) of ovarian cancer and subsequent diagnosis of breast cancer was not found (odds ratio (OR) = 0.6; 95% CI: 0.2-2.0). Adjustment for stage at diagnosis, treatment, year of diagnosis and length of follow-up using Cox Proportional Hazards modeling techniques supported these relationships, yielding a hazard ratio (HR) for the development of a second primary cancer at the alternate site of 4.6 (95% CI: 1.8-11.5) for women with an initial breast cancer diagnosis and 0.6 (95% CI: 0.2-2.2) for women with an initial ovarian cancer diagnosis. Multiple primary breast and ovarian cancer patients diagnosed with an initial breast cancer at or prior to age 50 may represent a distinct subgroup of women with a germline mutation that confers susceptibility to both breast and ovarian cancers.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Eligible women included those aged 18 years or older who were diagnosed with histologically confirmed, nonmetastatic breast and/or ovarian cancer (including in situ cancers) between January 1, 1970, and December 31,1989. A total of 7,166 breast cancer cases and 1,758 ovarian cancer cases were identified.…”

Section: Subjectsmentioning

confidence: 99%

Age at diagnosis and multiple primary cancers of the breast and ovary

Suris-Swartz

Schildkraut

Vine

et al. 1996

Breast Cancer Res Tr

Self Cite

View full text Add to dashboard Cite

show abstract

“…Conventional cytogenetic studies and FISH analyses of breast and ovarian tumour cells have shown multiple chromosomal abnormalities involving chromosomes 7, 12 and 17 (Dutrillaux et al, 1990;Geleick et al, 1990;Cajulis et al, 1994;Persons 1994;Xu et al, 1994;Fiegl et al, 1995;Visscher et al, 1995Visscher et al, , 1996Ishikawa et al, 1996, Engel et al, 1998. The erbB-2 oncogene located on chromosome 17q is expressed in a substantial number of breast tumours and associated with a poor prognosis (Kallioniemi et al, 1992;An et al, 1995;Schildkraut et al, 1995;Fernandez et al, 1996;Sauter et al, 1996;Ishikawa et al, 1997). Recent studies (Press et al, 1997;Revillion et al, 1998) have confirmed a significantly worse survival of erbB-2-positive patients and suggest that erbB-2 could be a marker of reduced response to chemotherapy and hormonal treatment.…”

Section: Discussionmentioning

confidence: 99%

Detection of circulating tumour cells in patients with breast or ovarian cancer by molecular cytogenetics

et al. 1999

View full text Add to dashboard Cite

The detection and elimination of minimal disseminated disease in patients with solid tumours is one of the main current topics in clinical oncology (Pantel, 1996).A variety of assays of widely varying sensitivity have been utilized for the detection of circulating tumour cells such as light microscopy, cytogenetic analyses, fluorescence in situ hybridization (FISH), Southern blot analysis, immunocytochemistry, polymerase chain reaction (PCR) and flow cytometry (Kvalheim, 1996;Pantel, 1996;Vrendenburgh et al, 1996;Schoenfeld et al, 1997;Traystman et al, 1997).Because of the fact that breast and ovarian cancers do not appear to have tumour-specific chromosomal aberrations, tumour cell detection by molecular methods is based on the amplification of tissue-specific transcripts Bostick et al, 1998). In immunocytochemical assays, epithelial specific antibodies have been used to detect isolated tumour cells in bone marrow (BM) and blood (Cote et al, 1991(Cote et al, , 1995(Cote et al, , 1996Diel et al, 1996;Franklin et al, 1996).In an effort to obtain greater sensitivity, several investigators have developed techniques for the enrichment of tumour cells before their identification by immunocytochemistry, PCR or FISH (Hardingham et al, 1993(Hardingham et al, , 1995Berois et al, 1997;Eaton et al, 1997;Hildebrandt et al, 1997;Naume et al, 1997;Martin et al, 1998).Therefore, the aim of our study was to analyse the presence and frequency of circulating tumour cells in the peripheral blood of patients with breast or ovarian cancer by using a combination of magnetic activated cell sorting (MACS) and interphase FISH. MATERIALS AND METHODS PatientsIn this study we included 48 adult patients with a median age of 60.6 ± 13.3 years (range 30-86). Thirty-five had the diagnosis of breast cancer, 12 ovarian cancer and one uterine sarcoma. Twentyfive patients had primary disease (6/25 without involvement of axillary lymph nodes, 8/25 with solid metastases, 11/25 with lymph node metastases) and 23 had relapsed (20/23 with solid metastases). PB-samples were obtained following informed consent at the time of diagnosis, during or after therapy. MACSsorted tumour cells were analysed by interphase FISH, using α-satellite probes specific for the centromeric regions of chromosomes 7, 12, 17 and the region 17 q11.2-q12 (HER-2/neu). Controls were PB-samples from five normal volunteers to determine the background for each probe. Magnetic cell separationMononuclear cells were isolated from fresh blood by FicollHypaque gradient separation. After washing in PBS per 5 mm EDTA, 300 µl PBS buffer per 10 8 cells, 20 µl of CK-8 microbeads (Miltenyi Biotec GmbH, Bergisch Gladbach, Germany) were added. After gentle mixing and incubation for 15 min at 4°C, the cells were washed once in 5 ml buffer per 10 8 cells. The buffer was completely removed, and the cells were resuspended again in 400 µl buffer. The cell suspension was then applied to a prefilled Summary Detection of micrometastases in patients with solid tumours may aid the establishment of prognosi...

show abstract

“…Monozygotic twins with identical genomes are ideal for the search of putative predisposing tumour suppressor genes by LOH analysis, because the loss of the same allele at a specific locus can reflect the loss of the wild type allele and point out a locus for a tumour suppressor gene. Concordant loss of the same allele at a specific locus in multiple tumours arising in the same individual can also signal heritable risks as has been demonstrated at 17q11-21 in the breast and ovarian tumours of the same patients (Schildkraut et al, 1995). Similarly, the left and right tumours from women with premenopausal bilateral breast cancer had lost the same allele at several markers adjacent or within known breast tumour suppressor genes (Kollias et al, 2000), suggesting a common genetic origin of the tumours.…”

Section: Discussionmentioning

confidence: 81%

Use of Monozygotic Twins in Search for Breast Cancer Susceptibility Loci

Försti¹,

Jin

Sundqvist

et al. 2001

Twin res.

View full text Add to dashboard Cite

We have used Swedish monozygotic twins concordant for breast cancer to study genetic changes associated with the development of breast cancer. Because loss of heterozygosity (LOH) at a specific genomic region may reflect the presence of a tumour suppressor gene, loss of the same allele in both of the twins concordant for breast cancer may pinpoint a tumour suppressor gene that confers a strong predisposition to breast cancer. DNA samples extracted from the matched tumour and normal tissues of nine twin pairs were analysed for allelic imbalance using a set of microsatellite markers on chromosomes 1, 13, 16 and 17, containing loci with known tumour suppressor genes. The two main regions, where more twin pairs than expected had lost the same allele, were located at 16qtel, including markers D16S393, D16S305 and D16S413, and at 17p13, distal to the p53 locus. Our results show that the monozygotic twin model can be used to suggest candidate regions of potential tumour suppressor genes, even with a limited number of twin pairs.

show abstract

Loss of heterozygosity on chromosome 17q11-21 in cancers of women who have both breast and ovarian cancer

Cited by 19 publications

References 6 publications

Age at diagnosis and multiple primary cancers of the breast and ovary

Age at diagnosis and multiple primary cancers of the breast and ovary

Detection of circulating tumour cells in patients with breast or ovarian cancer by molecular cytogenetics

Use of Monozygotic Twins in Search for Breast Cancer Susceptibility Loci

Contact Info

Product

Resources

About