Allelic imbalance and microsatellite instability in BRCA1 associated breast and ovarian tumors

Looij, Marco van der; Papp, J.; Sztan, Marianna; Pulay, Tamás; Elfadil, Ibrahim; Besznyák, I; Tóth, József; Devilee, Peter; Olàh, Edith

doi:10.3892/ijo.18.4.775

Cited by 3 publications

(3 citation statements)

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“…According to Siah et al (2000), such variability suggests that the mismatch repair defects, resulting in an increase of MSI, can play a role in the pathogenesis of particular breast cancer. However, the high frequency MSI found in this study is at odds with what has been reported in the literature for breast cancer in general where the MSI was observed in 0 to 50% of cases (Hye-Jung et al, 1993;Peltomaki et al, 1993;Wooster et al, 1994;Demarchis et al, 1997;Van Der Looij et al, 2001). Anbazhagan et al (1999), have concluded that characteristics mismatch repair errors of MSI phenotype are rare in human breast cancer.…”

Section: Discussioncontrasting

confidence: 73%

Clinicopathological and survival significance of BAT-25 and BAT-26 instability in breast cancer among Senegalese patients

Mbaye

Dem

et al. 2015

J. Cancer Res. Exp. Oncol.

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In some tumors, defects in mismatch repair enzymes lead to errors in the replication of simple nucleotide repeat segments. This condition is commonly known as microsatellite instability (MSI) because of the frequent mutations of microsatellite sequences. The primary aim of this study is to evaluate the clinicopathological and survival significance of BAT-25 and BAT-26 instability, in 60 patients with breast cancer. Polymerase chain reaction was used to amplify the following microsatellite repeat loci BAT-25 and BAT-26. Medical records were studied in order to determine clinical data of BAT-25 and BAT-26, analysis was carried out. 60.71% of cancer tissues analyzed were found to be unstable for both markers.BAT-26 instability has an impact on the age (Od: 15.47; CI 1.08-974; 19, P: 0.020) and survival (P: 0.0342) of patients. BAT-26 which has a poly A sequence, can be considered alone as a good marker for the detection of MSI tumors in breast cancer.

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Section: Discussioncontrasting

confidence: 73%

Clinicopathological and survival significance of BAT-25 and BAT-26 instability in breast cancer among Senegalese patients

Mbaye

Dem

et al. 2015

J. Cancer Res. Exp. Oncol.

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“…Loss in BRCA1 enables microsatellite instability in mouse models and in colorectal cancer [55], though not in ovarian cancer [56,57]. Microsatellite instability directly leads to centrosome amplification, but SCNA instability, which may explain why it is observed in only a small minority of ovarian cancer patients, and is not linked to BRCA mutation status.…”

Section: Brca1/2 Mutations and Homologous Repair Defectsmentioning

confidence: 99%

Genomic Copy Number Alterations in Serous Ovarian Cancer

Delaney¹,

Stupack²

2018

Ovarian Cancer - From Pathogenesis to Treatment

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Precision medicine in cancer is the idea that the recognition and targeting of key genetic drivers of a patient's tumor can permit more effective and less toxic outcomes. Point mutations that alter protein function have been primary targets. Yet in ovarian cancer, unique genetic mutations have been identified only in adult granulosa cell tumors, with a number of other point mutations present in mucinous, clear cell and endometrioid carcinoma subtypes. By contrast, the serous subtype of ovarian cancer shows many fewer point mutations but cascading defects in DNA damage repair that leads to a network of gains and losses of entire genes called somatic copy number alterations. The shuffling and selection of the thousands of genes in serous ovarian cancer has made it a complex disease to understand, but patterns are beginning to emerge based on our understanding of key cellular protein networks that may provide a better basis for future implementation of precision medicine for this most prevalent subtype of disease.

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“…This pathway plays a prominent role in breast cancer pathogenesis [3, 4] and specifically in BRCA1 – BRCA2 -associated breast cancers [5, 6] and epithelial ovarian cancer [7]. These functional activities, taken together with the in vitro evidence of its tumor suppressor activity in breast cancer cell lines and altered expression somatically in breast cancer tissues [8], combined with the chromosomal location of the gene at 13q12, a frequent site of allelic loss in breast and ovarian tumors [9], make KL a putative tumor suppressor gene in breast and ovarian cancer. Since the lifetime risk for developing these tumor types is substantially increased in women who carry germline mutations in BRCA1 or BRCA2 [10, 11], it seemed plausible that KL could affect cancer penetrance in BRCA1 and/or BRCA2 mutation carriers.…”

Section: Introductionmentioning

confidence: 99%

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

Laitman

Kuchenbaecker

Rantala

et al. 2012

Breast Cancer Res Treat

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Klotho (KL) is a putative tumor suppressor gene in breast and pancreatic cancers located at chromosome 13q12. A functional sequence variant of Klotho (KL-VS) was previously reported to modify breast cancer risk in Jewish BRCA1 mutation carriers. The effect of this variant on breast and ovarian cancer risks in non-Jewish BRCA1/BRCA2 mutation carriers has not been reported. The KL-VS variant was genotyped in women of European ancestry carrying a BRCA mutation: 5,741 BRCA1 mutation carriers (2,997 with breast cancer, 705 with ovarian cancer, and 2,039 cancer free women) and 3,339 BRCA2 mutation carriers (1,846 with breast cancer, 207 with ovarian cancer, and 1,286 cancer free women) from 16 centers. Genotyping was accomplished using TaqMan® allelic discrimination or matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Data were analyzed within a retrospective cohort approach, stratified by country of origin and Ashkenazi Jewish origin. The per-allele hazard ratio (HR) for breast cancer was 1.02 (95% CI 0.93–1.12, P = 0.66) for BRCA1 mutation carriers and 0.92 (95% CI 0.82–1.04, P = 0.17) for BRCA2 mutation carriers. Results remained unaltered when analysis excluded prevalent breast cancer cases. Similarly, the per-allele HR for ovarian cancer was 1.01 (95% CI 0.84–1.20, P = 0.95) for BRCA1 mutation carriers and 0.9 (95% CI 0.66–1.22, P = 0.45) for BRCA2 mutation carriers. The risk did not change when carriers of the 6174delT mutation were excluded. There was a lack of association of the KL-VS Klotho variant with either breast or ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

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Allelic imbalance and microsatellite instability in BRCA1 associated breast and ovarian tumors

Cited by 3 publications

References 0 publications

Clinicopathological and survival significance of BAT-25 and BAT-26 instability in breast cancer among Senegalese patients

Clinicopathological and survival significance of BAT-25 and BAT-26 instability in breast cancer among Senegalese patients

Genomic Copy Number Alterations in Serous Ovarian Cancer

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

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