Christian F. Singer
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View article: The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1
The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1 Open
Background: Carriers of a pathogenic variant (PV) in BRCA1 face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location. Methods: BRCA1 carriers with no personal histo…
View article: Treatment of infertility and risk of breast cancer among women with a BRCA pathogenic variant: a matched case-control study
Treatment of infertility and risk of breast cancer among women with a BRCA pathogenic variant: a matched case-control study Open
Background The global trend toward delayed childbearing has led to an increased use of fertility treatment, including in vitro fertilization (IVF) and hormonal medications. Concerns regarding the potential impact of these interventions on …
View article: LesiOnTime - Joint Temporal and Clinical Modeling for Small Breast Lesion Segmentation in Longitudinal DCE-MRI
LesiOnTime - Joint Temporal and Clinical Modeling for Small Breast Lesion Segmentation in Longitudinal DCE-MRI Open
Accurate segmentation of small lesions in Breast Dynamic Contrast-Enhanced MRI (DCE-MRI) is critical for early cancer detection, especially in high-risk patients. While recent deep learning methods have advanced lesion segmentation, they p…
View article: New Perspectives in the Management of Triple-Negative Breast Cancer
New Perspectives in the Management of Triple-Negative Breast Cancer Open
Background: The biological heterogeneity of triple-negative breast cancer (TNBC) and the availability of a growing number of therapeutic options necessitate continuous redefinition of the ideal treatment algorithm for patients with TNBC. A…
View article: HER2/CEP17 ratio predicts residual cancer burden after neoadjuvant dual HER2 blockade: real-world data in patients with primary HER2-amplified breast cancer
HER2/CEP17 ratio predicts residual cancer burden after neoadjuvant dual HER2 blockade: real-world data in patients with primary HER2-amplified breast cancer Open
Novel human epidermal growth factor receptor 2 (HER2)-directed therapies have significantly improved outcomes for patients with HER2-positive early-stage breast cancer. Our study assessed the impact of HER2/chromosome enumeration probe 17 …
View article: LesiOnTime -- Joint Temporal and Clinical Modeling for Small Breast Lesion Segmentation in Longitudinal DCE-MRI
LesiOnTime -- Joint Temporal and Clinical Modeling for Small Breast Lesion Segmentation in Longitudinal DCE-MRI Open
Accurate segmentation of small lesions in Breast Dynamic Contrast-Enhanced MRI (DCE-MRI) is critical for early cancer detection, especially in high-risk patients. While recent deep learning methods have advanced lesion segmentation, they p…
View article: The incidence of pancreatic cancer in women with a <i>BRCA1</i> or <i>BRCA2</i> mutation
The incidence of pancreatic cancer in women with a <i>BRCA1</i> or <i>BRCA2</i> mutation Open
Background The lifetime risk of pancreatic cancer in women with a germline mutation in BRCA1 and BRCA2 is not well established. In an international prospective cohort of female carriers of BRCA1 and BRCA2 mutations, the cumulative incidenc…
View article: Nodal Burden and Oncologic Outcomes in Patients With Residual Isolated Tumor Cells After Neoadjuvant Chemotherapy (ypN0i+): The OPBC-05/ICARO Study
Nodal Burden and Oncologic Outcomes in Patients With Residual Isolated Tumor Cells After Neoadjuvant Chemotherapy (ypN0i+): The OPBC-05/ICARO Study Open
PURPOSE The nodal burden of patients with residual isolated tumor cells (ITCs) in the sentinel lymph nodes (SLNs) after neoadjuvant chemotherapy (NAC) (ypN0i+) is unknown, and axillary management is not standardized. We investigated rates …
View article: Clinical characterization, prognostic, and predictive values of HER2-low in patients with early breast cancer in the PALLAS trial (ABCSG-42/AFT-05/BIG-14–13/PrE0109)
Clinical characterization, prognostic, and predictive values of HER2-low in patients with early breast cancer in the PALLAS trial (ABCSG-42/AFT-05/BIG-14–13/PrE0109) Open
In this large, prospective, global patient cohort, no differences were observed in clinical parameters, prognosis, or differential benefit from palbociclib between HER2-0 and HER2-low tumors. Significant geographic variability was observed…
View article: Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in <i>BRCA1</i> and <i>BRCA2</i>
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in <i>BRCA1</i> and <i>BRCA2</i> Open
PURPOSE It is uncertain whether, and to what extent, hormonal contraceptives increase breast cancer (BC) risk for germline BRCA1 or BRCA2 mutation carriers. METHODS Using pooled observational data from four prospective cohort studies, asso…
View article: Final outcome analysis from the phase II TUXEDO-1 trial of trastuzumab-deruxtecan in HER2-positive breast cancer patients with active brain metastases
Final outcome analysis from the phase II TUXEDO-1 trial of trastuzumab-deruxtecan in HER2-positive breast cancer patients with active brain metastases Open
Background Brain metastases (BM) are a devastating complication of HER2-positive metastatic breast cancer (BC) and treatment strategies providing optimized local and systemic disease control are urgently required. The antibody-drug conjuga…
View article: Incidence of peritoneal cancer after oophorectomy among <i>BRCA1</i> and <i>BRCA2</i> mutation carriers
Incidence of peritoneal cancer after oophorectomy among <i>BRCA1</i> and <i>BRCA2</i> mutation carriers Open
Background To estimate the incidence of primary peritoneal cancer after preventive bilateral oophorectomy in women with a BRCA1 or BRCA2 mutation. Methods A total of 6310 women with a BRCA1 or BRCA2 mutation who underwent a preventive bila…
View article: Clinical applications of next‐generation sequencing‐based <scp>ctDNA</scp> analyses in breast cancer: defining treatment targets and dynamic changes during disease progression
Clinical applications of next‐generation sequencing‐based <span>ctDNA</span> analyses in breast cancer: defining treatment targets and dynamic changes during disease progression Open
The advancements in the detection and characterization of circulating tumor DNA (ctDNA) have revolutionized precision medicine and are likely to transform standard clinical practice. The non‐invasive nature of this approach allows for mole…
View article: Validation of the BOADICEA model in a prospective cohort of <i>BRCA1/2</i> pathogenic variant carriers
Validation of the BOADICEA model in a prospective cohort of <i>BRCA1/2</i> pathogenic variant carriers Open
Background No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in BRCA1/2 pathogenic variant (PV) carriers to date. Here, we evaluated the performance of BOADICEA in predicting …
View article: Prophylactic mastectomies in patients with breast cancer and known germline pathogenetic variants: an Austrian registry
Prophylactic mastectomies in patients with breast cancer and known germline pathogenetic variants: an Austrian registry Open
Objectives Risk-reducing surgeries are common in patients with breast cancer gene (BRCA) mutations. Certain patients develop breast cancer before they opt for these surgeries. We aimed to examine the frequency of risk-reducing mastectomies…
View article: 86P The value of intraoperative frozen section examination in the survival of breast cancer
86P The value of intraoperative frozen section examination in the survival of breast cancer Open
Frozen section (IFS) assessment enables intraoperative assessment of resection margins, however, its accuracy is subjected to interobserver variability. This study evaluated factors that affect efficacy of resection margin evaluation using…
View article: Validation of the BOADICEA Model in a Prospective Cohort of<i>BRCA1/2</i>Pathogenic Variant Carriers
Validation of the BOADICEA Model in a Prospective Cohort of<i>BRCA1/2</i>Pathogenic Variant Carriers Open
Background No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in BRCA1/2 pathogenic variant (PV) carriers to date. Here, we evaluated the performance of BOADICEA in predicting …
View article: Impact of Electronic Patient-Reported Outcomes on Unplanned Consultations and Hospitalizations in Patients With Cancer Undergoing Systemic Therapy: Results of a Patient-Reported Outcome Study Compared With Matched Retrospective Data
Impact of Electronic Patient-Reported Outcomes on Unplanned Consultations and Hospitalizations in Patients With Cancer Undergoing Systemic Therapy: Results of a Patient-Reported Outcome Study Compared With Matched Retrospective Data Open
Background The evaluation of electronic patient-reported outcomes (ePROs) is increasingly being used in clinical studies of patients with cancer and enables structured and standardized data collection in patients’ everyday lives. So far, f…
View article: MRI Surveillance and Breast Cancer Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations
MRI Surveillance and Breast Cancer Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations Open
Importance Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast canc…
View article: Bilateral Oophorectomy and All-Cause Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations
Bilateral Oophorectomy and All-Cause Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations Open
Importance Preventive bilateral salpingo-oophorectomy is offered to women at high risk of ovarian cancer who carry a pathogenic variant in BRCA1 or BRCA2 ; however, the association of oophorectomy with all-cause mortality has not been clea…