Clinicopathological Features of BRCA1/2 Mutation-Positive Breast Cancer

Oncology ◽  
2021 ◽  
pp. 1-8
Author(s):  
Hyun-June Paik ◽  
Youn Joo Jung ◽  
Dong Il Kim ◽  
Seungju Lee ◽  
Chang Shin Jung ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Hereditary Breast Cancer ◽  
Gene Mutations ◽  
Disease Free Survival ◽  
Clinicopathological Characteristics ◽  
Breast Cancer Patients ◽  
Positive Breast Cancer

<b><i>Purpose:</i></b> The <i>BRCA1/2</i> gene is the most well-known and studied gene associated with hereditary breast cancer. <i>BRCA1/2</i> genetic testing is widely performed in high-risk patients of hereditary breast cancer in Korea. This study aimed to investigate the clinicopathological characteristics of <i>BRCA1/2</i> mutation-positive breast cancer patients. <b><i>Methods:</i></b> The clinical data of 188 Korean breast cancer patients who underwent genetic testing of <i>BRCA1/2</i> mutation between March 2015 and February 2020 at Pusan National University Yangsan Hospital were retrospectively reviewed. The characteristics of breast cancer according to the expression of <i>BRCA1</i> and <i>BRCA2</i> mutations were analyzed using the Health Insurance Review and Assessment Service guideline criteria and other clinicopathological factors. <b><i>Results:</i></b> The factor associated with <i>BRCA1/2</i> gene expression was cancer stage, and mutation expression was significantly decreased in stage I compared to stage 0 (<i>p</i> = 0.033; odds ratio [OR], 0.169; 95% confidence interval [CI], 0.033–0.867), and there was a tendency to increase in stage II (<i>p</i> = 0.780; OR, 1.150; 95% CI, 0.432–3.064). <i>BRCA1</i> was significantly associated with triple-negative breast cancer (TNBC) (<i>p</i> = 0.004; OR, 5.887; 95% CI, 1.778–19.498). Gene expression of <i>BRCA2</i> was significantly reduced under 40 years of age (<i>p</i> = 0.040; OR, 0.198; 95% CI, 0.042–0.930). There was no difference in disease-free survival (<i>p</i> = 0.900) and overall survival (<i>p</i> = 0.733) between the <i>BRCA1/2</i> mutation-positive and -negative groups. <b><i>Conclusion:</i></b> In this study, the clinicopathological characteristics of breast cancer patients with <i>BRCA1/2</i> gene mutations were identified. <i>BRCA1</i> gene expression was highly correlated with TNBC. <i>BRCA1/2</i> mutation did not have a poor prognosis regarding recurrence and death.

Diagnostic yield and clinical utility of germline genetic testing following somatic testing in breast cancer patients.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1092-1092
Author(s):  
Stephen E Lincoln ◽  
Kingshuk Das ◽  
Nhu Ngo ◽  
Sarah M. Nielsen ◽  
Scott T. Michalski ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Diagnostic Yield ◽  
Gene Mutations ◽  
Breast Cancer Diagnosis ◽  
Consecutive Series ◽  
Breast Cancer Patients ◽  
Tumor Sequencing ◽  
Germline Testing

1092 Background: Germline genetic testing is recommended for breast cancer patients with specific presentations or family histories. Separately, tumor DNA sequencing is increasingly used to inform therapy, most often in patients with advanced disease. Recent NCCN and ESMO guidelines recommend germline testing following somatic testing, under specific circumstances and for specific genes. We examined the utility of germline findings in patients referred for both test modalities. Methods: We reviewed somatic and germline mutations in a consecutive series of patients who: (a) had a current or previous breast cancer diagnosis, (b) were referred for germline testing, and (c) previously received tumor sequencing. Diverse reasons for germline testing included: a tumor finding of potential germline origin, treatment or surgical planning, personal or family history, and patient concern. Results: 227 patients met study criteria of whom 88 (39%) harbored a pathogenic germline variant (PGV) in a high or moderate risk cancer predisposition gene. Mutations in certain genes were most likely to be of germline origin, and most PGVs were potentially actionable (Table). 13% of PGVs were not reported by tumor tests as either germline or somatic findings, usually a result of tumor test limitations. Of note, 27 of the patients with PGVs (31%) had these variants uncovered only after presenting with a second, possibly preventable, malignancy. Conclusions: Germline testing following tumor sequencing often yielded findings that may impact care. Indeed, the 39% PGV rate we observed suggests that such testing may be underutilized. We observed actionable PGVs missed by somatic tests, PGVs uncovered in patients’ second malignancies, and PGVs not within germline reflex testing criteria. These results reinforce the utility of germline testing separate from somatic testing in appropriate patients. [Table: see text]

scholarly journals NGS-Based BRCA1, BRCA2, and PALB2 Mutation Testing in Iranian Population With Breast Cancer

2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 208s-208s ◽  
Author(s):  
E. Ebrahimi ◽  
E. Sellars ◽  
R. Shirkoohi ◽  
I. Harirchi ◽  
R. Ghiasvand ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Hereditary Breast Cancer ◽  
Cancer Susceptibility ◽  
Age At Onset ◽  
Iranian Population ◽  
Breast Cancer Patients ◽  
Risk Criteria

Background: Identification of individuals who have a pathogenic mutation in breast cancer susceptibility genes is an important step to take advantage of genetic counseling, screening, and potentially life-saving prevention strategies. Based on the National Comprehensive Cancer Network (NCCN) guideline, genetic testing is deemed suitable for breast cancer patients with young age at onset, positive family history of cancers, male breast cancer, or diagnosis with a multifocal or triple negative breast cancer. Aim: Since, it is not known what proportion of breast cancers in Iran is hereditary and related to mutations in BRCA1/2 and PALB2 genes, therefore, we screened these 3 genes in multiethnic Iranian population to determine the spectrum of the breast cancer susceptibility gene mutations and to further assess the predictive value of the hereditary breast cancer risk criteria for genetic testing. Methods: Next generation sequencing (NGS) was conducted on a population consisted of 299 and 125 breast cancer patients, with and without hereditary cancer risk criteria for genetic testing, respectively. Results: Pathogenic mutation rate was 10.36% in patients with hereditary criteria for breast cancer vs 1.6% in no criteria group ( P = 0.002). All the patients who only met the young age at onset (<40) criterion tested negative for a gene mutation. This is while patients who had only 1 hereditary criterion (OR: 5.48, 95% CI: 1.09, 52.90, P = 0.017) and patients with multiple hereditary criteria (OR: 22.5, 95% CI: 5.19, 201.31, P < 0.0001) had a significantly higher probability of finding a mutation compared with no risk-criteria group. Conclusion: The first application of NGS on Iranian breast cancer population added to the cumulative evidence that BRCA1/2 mutations are seen commonly among Iranian breast cancer patients especially those with hereditary breast cancer criteria and indicated that PALB2 should be concerned in hereditary breast cancer screening alongside BRCA1/2. Investigating the predictive potential of hereditary breast cancer risk criteria our results suggest that offering genetic testing to women with early age at onset of <40 with no other hereditary criteria, may not be cost effective and should be considered for optimization of genetic counseling and genetic testing of the Iranian population.

Adjuvant Clodronate Treatment Does Not Reduce the Frequency of Skeletal Metastases in Node-Positive Breast Cancer Patients: 5-Year Results of a Randomized Controlled Trial

2001 ◽  
Vol 19 (1) ◽  
pp. 10-17 ◽  
Author(s):  
Tiina Saarto ◽  
Carl Blomqvist ◽  
Pekka Virkkunen ◽  
Inkeri Elomaa
Keyword(s):  
Breast Cancer ◽  
Bone Metastases ◽  
Cancer Patients ◽  
Disease Free Survival ◽  
Skeletal Metastases ◽  
Breast Cancer Patients ◽  
Control Groups ◽  
Node Positive ◽  
Final Population ◽  
Positive Breast Cancer

PURPOSE: Bisphosphonates have effectively reduced the development and progression of bone metastases in advanced breast cancer. The aim of this study was to determine whether bone metastases could be prevented by adjuvant clodronate treatment in patients with primary breast cancer. PATIENTS AND METHODS: Between 1990 and 1993, 299 women with primary node-positive breast cancer were randomized to clodronate (n = 149) or control groups (n = 150). Clodronate 1,600 mg daily was given orally for 3 years. All patients received adjuvant therapy: premenopausal six cycles of CMF chemotherapy and postmenopausal antiestrogens (randomized to tamoxifen 20 mg or toremifene 60 mg/d for 3 years). Seventeen patients were excluded from the analyses because of major protocol violations. The final population was 282 patients. Intent-to-treat analyses were also performed for all major end points. The follow-up time was 5 years for all patients. RESULTS: Bone metastases were detected equally often in the clodronate and control groups: 29 patients (21%) versus 24 patients (17%) (P = .27). The development of nonskeletal recurrence was significantly higher in the clodronate group compared with controls: 60 patients (43%) versus 36 patients (25%) (P = .0007). The overall survival (OS) and disease-free survival (DFS) rates were also significantly lower in the clodronate group than in the controls (OS, 70% v 83%, P = .009; DFS, 56% v 71%, P = .007, respectively). In multivariate analyses, clodronate remained significantly associated with DFS (P = .009). CONCLUSION: Adjuvant clodronate treatment does not prevent the development of bone metastases in node-positive breast cancer patients. However, clodronate seems to have a negative effect on DFS by increasing the development of nonskeletal metastases.

A comparative analysis of clinicopathological characteristics and disease-free survival (DFS) outcomes in breast cancer patients: Mammograpghy vs symptomatic diagnosis.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e12018-e12018
Author(s):  
Mustafa Karaca
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Disease Free Survival ◽  
Clinicopathological Characteristics ◽  
Breast Cancer Patients ◽  
Her2 Receptor ◽  
Luminal A ◽  
Recurrence Rates ◽  
Histologic Subtype ◽  
The Difference

e12018 Background: Our goal was to compare clinicopathological characteristics and DFS time among breast cancer patients diagnosed with mammography or symptoms. Methods: This was retrospective analysis of 828 patient files. Diagnosis was done with mammography or symptom,considering the followings:age,menopause,hormone and HER2 receptor,grade,histologic subtype,lymphovascular(LVI) and perineuronal invasion(PNI),adjuvant chemotheraphy,adjuvant herceptin,adjuvant hormone and adjuvant radiotheraphy use.Recurrence dates,locations and last appointment dates were noted. Results: Breast cancer was detected by mammography in 324 patients vs by sysmptom in 504.The difference in most cases between these two methods were significant,and respectively:positive ALND 30% vs 53.7% p=0.0001,LVI 13.7% vs 31.6% p=0.0001,PNI 7.2% vs 18.1% p=0.0001,adjuvant chemo 67% vs 85% p=0.0001,adjuvant hormone use 87.3% vs 82% p=0.001.However, recurrence rates did not differ sigificantly among two groups 12% vs 12.6% p=0.4.The median follow-up and DFS time was 48 and 37 months,respectively.Prognostic parameters were also analyzed.Pathologic staging p=0.002,PNI p=0.027,LVI p=0.0001,hormone receptor status p=0.0001,triple negativity p=0.016,luminal A group p=0.048 were found statistically significant on DFS.Diagnosis with mammography was found to have no statistically significant effect on DFS. Conclusions: Although patients diagnosed with mammography had better prognostic parameters,recurrence rates were similar with symptomatic patients at the time of diagnosis.At survival analysis,recurrence rates were calculated to be similar to those of symptomatic patients’ group.

Prognostic impact of TP53INP1 gene expression in estrogen receptor α-positive breast cancer patients

2019 ◽  
Vol 49 (6) ◽  
pp. 567-575 ◽  
Author(s):  
Mayumi Nishimoto ◽  
Sayaka Nishikawa ◽  
Naoto Kondo ◽  
Yumi Wanifuchi-Endo ◽  
Yukari Hato ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Estrogen Receptor ◽  
Cancer Patients ◽  
Estrogen Receptor Α ◽  
Prognostic Impact ◽  
Breast Cancer Patients ◽  
Positive Breast Cancer

Disease-free Survival of Node-positive Breast Cancer Patients

1995 ◽  
Vol 191 (10) ◽  
pp. 982-990 ◽  
Author(s):  
M. Aubele ◽  
G. Auer ◽  
A. Voss ◽  
U. Falkmer ◽  
L. Rutquist ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Disease Free Survival ◽  
Breast Cancer Patients ◽  
Free Survival ◽  
Node Positive ◽  
Disease Free ◽  
Positive Breast Cancer
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