Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score

Feng, Cong; Zhang, Yinbin; Wu, Fei; Li, Jia; Liu, Mengjie; Lv, Wei; Li, Chaofan; Wang, Weiwei; Tan, Qinghua; Xue, Xu; Ma, Xingcong; Zhang, Shuqun

doi:10.1016/j.breast.2023.04.002

Cited by 6 publications

(3 citation statements)

References 48 publications

(58 reference statements)

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“…This characteristic has been associated with improved responses to neoadjuvant treatments, with pathological complete response rates around 50%, as opposed to 8.3% in tumors with HR proficiency. 14 However, molecular and genetic analyses of the tumor revealed that the two germline pathogenic variants did not exhibit LOH, and the tumor demonstrated HR proficiency, as indicated by GIS and RAD51 score. Accordingly, the tumor exhibited limited sensitivity to neoadjuvant chemotherapy and to platinum-based chemotherapy in the metastatic setting.…”

Section: Discussionmentioning

confidence: 97%

“…4,11,12 Consequently, these tumors are expected to have a high sensitivity to DNA-damaging agents, such as platinumbased chemotherapy, as well as other targeted therapies, including PARPi. 5,6,13 Despite the lower prevalence of HRD in luminal B-like HER2-negative tumors compared with triple-negative breast cancer (28% v approximately 60%), 14 our initial hypothesis was that the tumor would exhibit LOH in these genes and, consequently, HRD. This characteristic has been associated with improved responses to neoadjuvant treatments, with pathological complete response rates around 50%, as opposed to 8.3% in tumors with HR proficiency.…”

Section: Discussionmentioning

confidence: 97%

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Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing

Rezqallah,

Torres-Esquius,

Llop-Guevara

et al. 2024

JCO Precis Oncol

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 97%

Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing

Rezqallah,

Torres-Esquius,

Llop-Guevara

et al. 2024

JCO Precis Oncol

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show abstract

“…Breast cancer (BC) has replaced lung cancer as the most common cancer in the world (accounting for 11.7% of the total cases), and is also the largest cause of cancer death in women (Feng et al, 2023; Geng, Cao, Dong, An, & Gao, 2023). Numerous studies show that the incidence and mortality of BC are rising.…”

Section: Introductionmentioning

confidence: 99%

Establishment and verification of a nomogram to predict risk and prognostic factors of triple-negative breast cancer with organ metastasis based on the SEER cohort study

Niu

Chen

et al. 2023

Preprint

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Background:This study aims to identify the risk and prognostic factors of TNBC patients with organ metastasis, furthermore, establish and validate a nomogram to forecast the overall survival (OS). Methods:The Surveillance, Epidemiology, and End Results (SEER) database was used to collect the clinicopathological data of TNBC patients from 2010 to 2020. All the TNBC patients were divided into two groups: no organ metastasis cohort (n = 32154) and organ metastasis cohort (n = 1199) based on the presence or absence of organ metastasis, including liver, lung, bone, and brain). TNBC patients with organ metastasis were further randomly assigned into a training cohort and testing cohort in a 7:3 ratio. Univariate and multivariate Cox regression analyses were used to identify the independent prognostic factors. A nomogram was developed to predict the OS for TNBC patients with organ metastasis. The calibration curve, receiver operating characteristic (ROC) area under the curve (AUC), and the decision curve analysis (DCA) were used to estimate the accuracy and clinical effectiveness of the nomogram. Results: The median OS after organ metastasis was 12 months and 62 months in the group without organ metastasis. The 2-year survival rate in the liver metastasis cohort was 14.88%, the bone metastasis cohort was 22.17%, the lung metastasis cohort was 25.17% and the brain metastasis cohort was 12.08%. Multivariate Cox regression analysis revealed that age, T stage, surgery, and chemotherapy were independent factors affecting prognosis in the group with organ metastasis. The nomogram was established by the aforementioned variables. Conclusions:TNBC patients with organ metastasis had a worse prognosis. Age, T stage, surgery, and chemotherapy were independent prognostic factors of TNBC patients with organ metastasis. The nomogram was recommended for TNBC patients with organ metastasis and helped to make personalized clinical treatment plans.

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Association between homologous recombination deficiency status and carboplatin treatment response in early triple-negative breast cancer

Wang,

Lu,

Han

et al. 2024

Breast Cancer Res Treat

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Background The aim of this study was to assess homologous recombination deficiency (HRD) status and its correlation with carboplatin treatment response in early triple-negative breast cancer (TNBC) patients. Methods Tumor tissues from 225 consecutive TNBC patients were evaluated with an HRD panel and homologous recombination-related (HRR) gene expression data. HRD positivity was defined as a high HRD score and/or BRCA1/2 pathogenic or likely pathogenic mutation. Clinicopathological factors, neoadjuvant treatment response, and prognosis were analyzed with respect to HRD status in these TNBC patients. Results HRD positivity was found in 53.3% of patients and was significantly related to high Ki67 levels (P = 0.001). In patients who received neoadjuvant chemotherapy, HRD positivity (P = 0.005) or a high HRD score (P = 0.003) was significantly associated with a greater pathological complete response (pCR) rate, especially in those treated with carboplatin-containing neoadjuvant regimens (HRD positivity vs. negativity: 50.00% vs. 17.65%, P = 0.040). HRD positivity was associated with favorable distant metastasis-free survival (hazard ratio HR 0.49, 95% confidence interval CI 0.26–0.90, P = 0.022) and overall survival (HR 0.45, 95% CI 0.20–0.99, P = 0.049), irrespective of carboplatin treatment. Conclusion TNBC patients with high HRDs had high Ki67 levels and BRCA mutations. HRD-positive TNBC patients treated with carboplatin had a higher pCR rate. Patients with HRD positivity had a better prognosis, irrespective of carboplatin treatment, warranting further evaluation.

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Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score

Cited by 6 publications

References 48 publications

Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing

Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing

Establishment and verification of a nomogram to predict risk and prognostic factors of triple-negative breast cancer with organ metastasis based on the SEER cohort study

Association between homologous recombination deficiency status and carboplatin treatment response in early triple-negative breast cancer

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