Clinical target sequencing for precision medicine of breast cancer

Tsuchida, Junko; Rothman, Jami; McDonald, Kerry-Ann; Nagahashi, Masayuki; Takabe, Kazuaki; Wakai, Toshifumi

doi:10.1007/s10147-018-1373-5

Cited by 14 publications

(7 citation statements)

References 83 publications

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“…Based on the notion that the accumulation of somatic mutations in cancer cells drives cancer progression 1 , 37 , we previously reported that aggressive cancer biology and anti-cancer immunity are counterbalanced in breast cancer with high mutation rates 4 . This finding led us to the current study where we investigated the clinical relevance of immune activity in breast cancer.…”

Section: Discussionmentioning

confidence: 99%

Enhanced immune response outperform aggressive cancer biology and is associated with better survival in triple-negative breast cancer

Oshi

Patel

et al. 2022

npj Breast Cancer

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Although the value of tumor-infiltrating lymphocytes is well known, the clinical relevance of an increased immune response, specifically in breast cancer, has not been investigated across large cohorts of patients using computational algorithms. Our hypothesis stated that an enhanced immune response is associated with an improvement in outcomes. To quantify the immune response, we utilized the allograft rejection score correlated with cytolytic activity and with all the other Hallmark immune-related gene sets. The score reflected the amount of infiltrating immune cells that correlated with the immune checkpoint molecule expressions, including CD4+ and CD8+ T cells, T helper type 1 (Th1) and type 2 (Th2) cells, M1 macrophages, B cells, and plasmacytoid dendritic cells (pDC). A high score was associated with high levels of intratumor heterogeneity, homologous recombination defects, mutation rate, histological grade, advanced stage, and lymph node metastasis. Breast malignancy with a high score enriched immune-related gene sets and pro-cancer-related gene sets, including epithelial–mesenchymal transition and KRAS pathway, in ER-positive/HER2-negative and triple-negative breast cancer (TNBC) groups. TNBC had the highest score compared to other subtypes, and was associated with better survival. In conclusion, we found that breast cancer with a high immune response is associated with aggressive cancer biology, but with better survival in TNBC.

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Section: Discussionmentioning

confidence: 99%

Enhanced immune response outperform aggressive cancer biology and is associated with better survival in triple-negative breast cancer

Oshi

Patel

et al. 2022

npj Breast Cancer

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“…SNPs affect the risk, disease expression patterns, and prognosis of several types of human cancers including breast cancer and this may improve the development of personalized medicine. 26,29,38,53,55,57 In dogs, the genetic profile (including SNPs) have been associated with the risk, clinicopathological features, biological behavior, and prognosis of CMTs. 6,7,[9][10][11][12][13]18,19,45 The present study aimed to assess the influence of PRL gene SNP rs23932236 on CMTs features and outcome.…”

Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphism in Prolactin Gene Is Associated With Clinical Aggressiveness and Outcome of Canine Mammary Malignant Tumors

et al. 2021

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Prolactin (PRL) is a key hormone involved in canine mammary development and tumorigenesis. In this study, the influence of a single nucleotide polymorphism (SNP) in the PRL gene (rs23932236) on the clinicopathological parameters and survival of dogs with canine mammary tumors (CMTs) was investigated. A total of 206 female dogs with spontaneous mammary tumors were enrolled in this study and circulating blood cells were genotyped. This specific SNP was associated with larger size (>3 cm diameter) for malignant tumors ( P = .036), tumors with infiltrative/invasive growth pattern ( P = .010), vascular invasion ( P = .006), and lymph node metastasis ( P = .004). Carriers of the variant allele had a shorter overall survival compared to the wild-type population with an overall survival of 18.7 months and 22.7 months, respectively ( P = .004). These findings suggest that SNP rs23932236 of canine PRL gene may be used as an indicator for the development of clinically aggressive forms of CMTs.

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“…A multigene panel can be tailored to genes of interest and can be updated as new genes are discovered [ 45 ]. These genomic advances not only pave the way for the development of targeted therapies for different molecular subclasses of tumours but also allow for more precise diagnoses based on molecular profiling and delineate subgroups of patients who are more likely to benefit from targeted agents [ 47 , 48 ]. These tests can also identify actionable driver mutations and underlying mechanisms of drug resistance to reveal patients who are likely to be resistant to therapy [ 47 ].…”

Section: Qualitative Diagnosismentioning

confidence: 99%

Qualitative and Quantitative Diagnosis in Head and Neck Cancer

et al. 2021

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The diagnosis is the art of determining the nature of a disease, and an accurate diagnosis is the true cornerstone on which rational treatment should be built. Within the workflow in the management of head and neck tumours, there are different types of diagnosis. The purpose of this work is to point out the differences and the aims of the different types of diagnoses and to highlight their importance in the management of patients with head and neck tumours. Qualitative diagnosis is performed by a pathologist and is essential in determining the management and can provide guidance on prognosis. The evolution of immunohistochemistry and molecular biology techniques has made it possible to obtain more precise diagnoses and to identify prognostic markers and precision factors. Quantitative diagnosis is made by the radiologist and consists of identifying a mass lesion and the estimation of the tumour volume and extent using imaging techniques, such as CT, MRI, and PET. The distinction between the two types of diagnosis is clear, as the methodology is different. The accurate establishment of both diagnoses plays an essential role in treatment planning. Getting the right diagnosis is a key aspect of health care, and it provides an explanation of a patient’s health problem and informs subsequent decision. Deep learning and radiomics approaches hold promise for improving diagnosis.

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Clinical target sequencing for precision medicine of breast cancer

Cited by 14 publications

References 83 publications

Enhanced immune response outperform aggressive cancer biology and is associated with better survival in triple-negative breast cancer

Enhanced immune response outperform aggressive cancer biology and is associated with better survival in triple-negative breast cancer

Single Nucleotide Polymorphism in Prolactin Gene Is Associated With Clinical Aggressiveness and Outcome of Canine Mammary Malignant Tumors

Qualitative and Quantitative Diagnosis in Head and Neck Cancer

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