Gene polimorphisms and biological factors as possible predictors for patients with pleural metastatic breast cancer

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 10671-10671
Author(s):  
A. Montes-Worboys ◽  
A. Romero ◽  
A. M. Casas ◽  
E. Arellano ◽  
J. M. Juan ◽  
...  

10671 Background: Pronosis of breast cancer varies widely in patients with similar clinical features. Therefore, we investigated other factors with possible prognostic value. The CYP17 gene has a polimorphism related to a increased susceptibility to breast cancer (single T; A1 allele to C; A2 allele). ( Mitrunen et al. Cancer Epidemiol Biomarkers Prev 2000,9;12;1343–8). On the other hand, it has been found in the MTHFR gene a common C-T substitution at nucleotide 677 that is associated with reduced enzyme activity and increased risk of breast cancer (Capmbell et al., Breast Cancer Research 2002;4,6:R14). Other genes such as GSTT1 and GSTM1 variant genotypes have a controversial association to breast cancer. We have analyzed the genotype and biological factors in a group of patients with pleural metastatic cancer of the breast and compared it to a control group of women with no cancer. Methods: Forty-six patients with breast cancer and forty women as controls were includes in the study. Age at diagnosis of the primary tumor, TNM staging, interval free of disease, estrogen and progesteron receptors, Ki67, p53 and Her-2neu expression were recorded, as well as survival from the time of diagnosis and polimorphism of CYP17, MTHFR, GSTT1 and GSTM1 genes. Results: Mean survival differed significantly between patients having pleural effusion as the first site of relapse as compared to those with other sites of relapse (28’9 vs 11’9 months, p = 0’004). A high Ki67 expression correlated best with longer survival after talc pleurodesis. We detected a high frequency in the CYP17 A2 variant genotype in patients with metastatic breast cancer compared to the control group. As for MTFHR gene, we found a high frequency for the T/T genotypes variant in breast cancer group. No significant differences between control and cancer group were found in either GSTT1 and GSTM1 gene variations. Conclusions: Genotype and biological factors, such as factors investigated in this study, play an important role as predictors for patients with pleural metastatic breast cancer. No significant financial relationships to disclose.

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1331
Author(s):  
Adriana Aguilar-Mahecha ◽  
Josiane Lafleur ◽  
Susie Brousse ◽  
Olga Savichtcheva ◽  
Kimberly A. Holden ◽  
...  

Background: Circulating tumor DNA (ctDNA) offers high sensitivity and specificity in metastatic cancer. However, many ctDNA assays rely on specific mutations in recurrent genes or require the sequencing of tumor tissue, difficult to do in a metastatic disease. The purpose of this study was to define the predictive and prognostic values of the whole-genome sequencing (WGS) of ctDNA in metastatic breast cancer (MBC). Methods: Plasma from 25 patients with MBC were taken at the baseline, prior to treatment (T0), one week (T1) and two weeks (T2) after treatment initiation and subjected to low-pass WGS. DNA copy number changes were used to calculate a Genomic Instability Number (GIN). A minimum predefined GIN value of 170 indicated detectable ctDNA. GIN values were correlated with the treatment response at three and six months by Response Evaluation Criteria in Solid Tumours assessed by imaging (RECIST) criteria and with overall survival (OS). Results: GIN values were detectable (>170) in 64% of patients at the baseline and were significantly prognostic (41 vs. 18 months OS for nondetectable vs. detectable GIN). Detectable GIN values at T1 and T2 were significantly associated with poor OS. Declines in GIN at T1 and T2 of > 50% compared to the baseline were associated with three-month response and, in the case of T1, with OS. On the other hand, a rise in GIN at T2 was associated with a poor response at three months. Conclusions: Very early measurements using WGS of cell-free DNA (cfDNA) from the plasma of MBC patients provided a tumor biopsy-free approach to ctDNA measurement that was both predictive of the early tumor response at three months and prognostic.


2017 ◽  
Vol 8 ◽  
pp. 18-22 ◽  
Author(s):  
Masashi Yanae ◽  
Shinichiro Fujimoto ◽  
Kaori Tane ◽  
Maki Tanioka ◽  
Kimiko Fujiwara ◽  
...  

2020 ◽  
Vol 7 (1) ◽  
pp. e000413
Author(s):  
Kasper Adelborg ◽  
Dóra Körmendiné Farkas ◽  
Jens Sundbøll ◽  
Lidia Schapira ◽  
Suzanne Tamang ◽  
...  

ObjectiveWe examined the risk of primary gastrointestinal cancers in women with breast cancer and compared this risk with that of the general population.DesignUsing population-based Danish registries, we conducted a cohort study of women with incident non-metastatic breast cancer (1990–2017). We computed cumulative cancer incidences and standardised incidence ratios (SIRs).ResultsAmong 84 972 patients with breast cancer, we observed 2340 gastrointestinal cancers. After 20 years of follow-up, the cumulative incidence of gastrointestinal cancers was 4%, driven mainly by colon cancers. Only risk of stomach cancer was continually increased beyond 1 year following breast cancer. The SIR for colon cancer was neutral during 2–5 years of follow-up and approximately 1.2-fold increased thereafter. For cancer of the oesophagus, the SIR was increased only during 6–10 years. There was a weak association with pancreas cancer beyond 10 years. Between 1990–2006 and 2007–2017, the 1–10 years SIR estimate decreased and reached unity for upper gastrointestinal cancers (oesophagus, stomach, and small intestine). For lower gastrointestinal cancers (colon, rectum, and anal canal), the SIR estimate was increased only after 2007. No temporal effects were observed for the remaining gastrointestinal cancers. Treatment effects were negligible.ConclusionBreast cancer survivors were at increased risk of oesophagus and stomach cancer, but only before 2007. The risk of colon cancer was increased, but only after 2007.


1983 ◽  
Vol 1 (6) ◽  
pp. 406-408 ◽  
Author(s):  
M Todd ◽  
M Shoag ◽  
E Cadman

The tumor registry at Yale--New Haven Hospital, which began recording data in 1920, was utilized to examine the ultimate outcome of all breast cancer patients who were initially diagnosed at Yale with metastatic breast cancer. Of the 5,898 patients with breast cancer seen from 1920 to 1980, 574 initially had metastatic cancer. The median survival of these patients increased steadily from 21 months in 1920 to 41 months in the decade from 1970 to 1980. The percentage of women actually surviving 5 years increased from 5% in the 1920s to approximately 25% in the 1960s. Despite the use of combination drug programs in the 1970s, the percentage of these patients remaining alive at 5 years remained near 25%. Firm conclusions cannot be made from a retrospective study spanning 60 years, although the trends depicted and lack of continued improvement indicate that our current therapeutic approach to metastatic breast cancer may not result in dramatic improvement in overall survival.


2019 ◽  
Vol 26 (3) ◽  
Author(s):  
M. Tesch ◽  
K. Laing

Introduction Patients with metastatic cancer have a decreased life expectancy, and with screening and surveillance for new primary cancers, they run the risk of immediate harm with little chance of any benefit. Choosing Wisely Canada therefore recommends that such investigations be avoided in patients with metastatic disease.Methods We examined cancer screening practices in a subset of patients with metastatic cancer in Newfoundland and Labrador. Patients with metastatic breast cancer seen at the provincial cancer clinic during 2014–2016 were identified from the Newfoundland and Labrador Cancer Registry. For each patient, we assessed whether any one or a combination of screening mammography, Pap (Papanicolaou) test, flexible sigmoidoscopy or colonoscopy, or fecal immunohistochemical test were performed at any point after the diagnosis of metastatic disease.Results Of 305 patients with metastatic breast cancer, 114 (37.4%) underwent at least 1 screening investigation (mean: 2.92 investigations per screened patient). The most common screening investigations were mammography (n = 197) and Pap test (n = 107). Primary care providers ordered most of the screening investigations (70%); oncology specialists ordered 14%, and other specialists, 12%. Median overall survival for patients with breast cancer after a diagnosis of metastatic disease was 42 months, with a 5-year overall survival of 35.9%.Conclusions A significant proportion of patients with metastatic breast cancer in Newfoundland and Labrador are still undergoing screening for new primary malignancies, which is discordant with oncology guidelines from Choosing Wisely Canada. Increased education strategies are needed if the Choosing Wisely Canada recommendations are to be implemented into routine clinical practice.


2020 ◽  
Vol 12 ◽  
pp. 175883592091530
Author(s):  
Ning Xie ◽  
Can Tian ◽  
Hui Wu ◽  
Xiaohong Yang ◽  
Liping liu ◽  
...  

Background: The survival status of patients with breast cancer and brain metastasis (BCBM) receiving current treatments is poor. Method: We designed a real-world study to investigate using patients’ clinical and genetic aberrations to forecast the prognoses of BCBM patients. We recruited 146 BCBM patients and analyzed their clinical features to evaluate the overall survival (OS). For genetic testing, 30 BCBM and 165 non-brain-metastatic (BM) metastatic breast cancer (MBC) patients from Hunan Cancer Hospital, and 86 BCBM and 1416 non-BM MBC patients from the Geneplus database who received circulating tumor DNA testing, were compared and analyzed. Results: Ki67 >14% and >3 metastatic brain tumors were significant risk factors associated with poor OS, while chemotherapy and brain radiotherapy were beneficial factors for better OS. Compared with non-BM MBC patients, BCBM patients had more fibroblast growth factor receptor ( FGFR) aberrations. The combination of FGFR, TP53 and FLT1 aberrations plus immunohistochemistry HER2-positive were associated with an increased risk of brain metastasis (AUC = 77.13%). FGFR aberration alone was not only a predictive factor (AUC = 67.90%), but also a significant risk factor for poor progression-free survival (Logrank p = 0.029). FGFR1 aberration was more frequent than other FGFR family genes in BCBM patients, and FGFR1 aberration was significantly higher in BCBM patients than non-BM MBC patients. Most FGFR1-amplified MBC patients progressed within 3 months of the late-line (>2 lines) treatment. Conclusion: A group of genetic events, including FGFR, TP53 and FLT1 genetic aberrations, and HER2-positivity, forecasted the occurrence of BM in breast cancers. FGFR genetic aberration alone predicted poor prognosis.


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