Patients' attitudes regarding genetic counseling before germline BRCA1/2 pathogenic variants testing in Taiwan: A single-country, multi-center, patient-reported outcome study.
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DOI: 10.1002/jgc4.1688
Abstract: Germline pathogenic variants of BRCA1 or BRCA2 cause hereditary breast and ovarian cancer syndromes. The present study investigated the participants' understanding and awareness of germline BRCA1/2 pathogenic variants before genetic counseling, the expectations and obstacles… read more here.
Keywords: pathogenic variants; brca1; germline; brca1 pathogenic ... See more keywords
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis
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DOI: 10.1136/jcp-2022-208753
Abstract: Aim To provide accurate figures of the frequency of specific clinical features in ovarian cancer (OC) associated with germline BRCA1/2 pathogenic variants and to define their relevance in predicting the presence of a germline pathogenic… read more here.
Keywords: pathogenic variants; brca1 pathogenic; meta analysis; cancer ... See more keywords
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers
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DOI: 10.1136/jmg-2024-109943
Abstract: 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 5-year breast… read more here.
Keywords: cohort; history; brca1 pathogenic; risk ... See more keywords
Polygenic Risk Score Predicts Modified Risk in BRCA1 Pathogenic Variant c.4035del and c.5266dup Carriers in Breast Cancer Patients
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DOI: 10.3390/cancers15112957
Abstract: Simple Summary The objective of our study was to explore the potential of using a polygenic risk score (PRS) to estimate the overall genetic risk of developing breast or ovarian cancer for women with inherited… read more here.
Keywords: 4035del 5266dup; prs; brca1 pathogenic; risk ... See more keywords
Satisfaction and Quality of Life of Healthy and Unilateral Diseased BRCA1/2 Pathogenic Variant Carriers after Risk-Reducing Mastectomy and Reconstruction Using the BREAST-Q Questionnaire
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DOI: 10.3390/genes13081357
Abstract: Risk-reducing mastectomy (RRM) is the most efficient form of breast cancer (BC) risk reduction in BRCA1/2 pathogenic variant (pV) carriers. However, this intervention in physical integrity is associated with significant morbidity. We assessed long-term perception… read more here.
Keywords: risk reducing; breast; reducing mastectomy; brca1 pathogenic ... See more keywords