Germline loss of function &lt;i&gt;BRCA1&lt;/i&gt; and &lt;i&gt;BRCA2&lt;/i&gt; mutations and risk of &lt;i&gt;de novo&lt;/i&gt; hematopoietic malignancies

Stubbins, Ryan J.; Asom, Anase; Wang, Peng; Lager, Angela M.; Gary, Alexander; Godley, Lucy A.

doi:10.3324/haematol.2022.281580

Cited by 4 publications

(1 citation statement)

References 19 publications

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“…BRCA mutations are associated with an increased risk of breast/ovarian cancers and other solid tumors [19,20]. There are few reports indicating an association between BRCA mutations and hematological malignancies [20,21]. In a study by Yin et al, they presented a new BRCA2 mutation, c.8434_8435insTT, associated with multiple hematological malignancies and solid tumors in a single family [20].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of New Generation Sequencing (NGS)-Based Somatic Gene Variations and Real-Time Polymerase Chain Reaction (PCR)-Based Gene Fusions in Elderly and Young Acute Leukemia Patients: A Retrospective View

Erdoğdu,

Örenay-Boyacıoğlu,

Boyacıoğlu

et al. 2024

JPM

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Malignant diseases occurring in elderly patients follow a different course from younger patients and show different genetic structures. Therefore, in this retrospective study, the somatic gene variant profile and fusion gene profiles of elderly and young acute leukemia patients were determined to draw attention to the existing genetic difference, and the results were compared. In this study, the records of 204 acute leukemia patients aged 18+ who were referred to the Molecular Pathology Laboratory from the Hematology Clinic between 2018 and 2022 were reviewed retrospectively. Fusion gene detection in patients was performed with the HemaVision®-28Q Panel. The NGS Myeloid Neoplasms Panel was conducted using the MiniSEQ NGS platform according to the manufacturer’s protocol. When all cases are evaluated together, the most frequently diagnosed acute leukemia is acute myeloid leukemia (85.8%). Both groups had a similar fusion gene profile; however, the fusion burden was higher in the elderly group. When the groups were evaluated in terms of somatic gene variations, there were differences between the groups, and the variation load was higher in the elderly group. Considering the different somatic gene variation profiles, it is understood that the genetic structure of tumor cells is different in elderly patients compared to young cases.

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Section: Discussionmentioning

confidence: 99%

Evaluation of New Generation Sequencing (NGS)-Based Somatic Gene Variations and Real-Time Polymerase Chain Reaction (PCR)-Based Gene Fusions in Elderly and Young Acute Leukemia Patients: A Retrospective View

Erdoğdu,

Örenay-Boyacıoğlu,

Boyacıoğlu

et al. 2024

JPM

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Prognosis in Acute Myeloid Leukemia: Beyond Cytogenetics

Sayginand,

Godley

2023

Cancer Consult

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Associations Between Lipid Traits and Breast Cancer Risk: A Mendelian Randomization Study in African Women

Ansah,

Kyei,

Opoku

et al. 2024

Preprint

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Blood lipids are associated with breast cancer. An increasing number of reports have attempted to explore the genetic connection between blood lipids and the risk of developing breast cancer. However, observational studies can be affected by confounding factors and reverse causation, which can compromise the reliability of the findings. We used univariate and multivariable two-sample mendelian randomization to explore the causal association between blood lipids and breast cancer. Summary-level data for lipid traits were obtained from the Africa Wits-INDEPTH partnership for Genomic Research (AWI-Gen) (N= 10,603, 58.5% of women). For breast cancer, we leveraged summary statistics from the most comprehensive Genome-wide Association Studies (GWAS) on breast cancer consisting of 18,034 cases and 22,104 controls of women of African ancestry. Our analysis suggests that genetically predicted triglycerides had a potential protective effect on breast carcinoma (OR = 0.73, 95% CI = 0.56, 0.95, FDR = 0.001). We found no evidence that genetically elevated levels of TC, HDL, and LDL may be associated with the risk of breast cancer TC (OR = 1.04; 95% CI, 0.93, 1.18; FDR = 0.029); HDL (OR = 1.29, 95% CI = 0.93, 1.79, FDR = 0.008); LDL (OR = 1.04, 95% CI = 0.90, 1.20, FDR = 0.036). Multivariate mendelian randomization analysis, which adjusted for the effects of TG, TC, LDL, and HDL, attenuated the observation of TG and breast cancer and also found no relationship between TC, HDL, LDL, and breast cancers. Furthermore, there was no evidence for a causal association between lipid traits and breast cancer subtypes. Our findings were robust in several sensitivity analyses. This study provides strong evidence that circulating TG may be associated with a decreased risk of breast cancer, while TC, LDL and HDL may not be related to the risk of breast cancer among African women.

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Germline loss of function <i>BRCA1</i> and <i>BRCA2</i> mutations and risk of <i>de novo</i> hematopoietic malignancies

Abstract: Not available.

Cited by 4 publications

References 19 publications

Evaluation of New Generation Sequencing (NGS)-Based Somatic Gene Variations and Real-Time Polymerase Chain Reaction (PCR)-Based Gene Fusions in Elderly and Young Acute Leukemia Patients: A Retrospective View

Evaluation of New Generation Sequencing (NGS)-Based Somatic Gene Variations and Real-Time Polymerase Chain Reaction (PCR)-Based Gene Fusions in Elderly and Young Acute Leukemia Patients: A Retrospective View

Prognosis in Acute Myeloid Leukemia: Beyond Cytogenetics

Associations Between Lipid Traits and Breast Cancer Risk: A Mendelian Randomization Study in African Women

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