Population frequencies of pathogenic alleles of BRCA1 and BRCA2 : analysis of 173 Danish breast cancer pedigrees using the BOADICEA model

AbstractThe Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) calculates the probability that a woman carries a pathogenic variant inBRCA1 orBRCA2 based on her pedigree and the population frequencies of pathogenic alleles ofBRCA1 (0.0006394) andBRCA2 (0.00102) in the United Kingdom (UK). BOADICEA allows the clinician to define the population frequencies of pathogenic alleles ofBRCA1 andBRCA2 for other populations but only includes preset values for the Ashkenazy Jewish and Icelandic populations. Among 173 early-onset breast cancer pedigrees in Denmark, BOADICEA discriminated well between carriers and non-carriers of pathogenic variants (area under the receiver operating characteristics curve: 0.81; 95% CI 0.74 –0.86) but underestimated the frequency of carriers of pathogenic variants inBRCA1 orBRCA2 as measured by the observed-to-expected ratio (O/E 1.83; 95% CI 1.18 –2.84). This reflects findings from older studies of BOADICEA in UK, German, Italian, and Chinese populations, all accounting for the different calibration for different carrier probabilities. To improve the performance of BOADICEA for non-UK populations, we developed a method to derive population frequencies of pathogenic alleles ofBRCA1 andBRCA2. Compared to the UK population frequencies, we estimated the Danish population frequencies of pathogenic alleles to be higher forBRCA1 (0.0015; 95% CI 0.00064 –0.0034) and lower forBRCA2 (0.00052; 95% CI 0.000...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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ConclusionsThis study quantifies the population ‐based prevalence of HBOC criteria using objectively determined genealogy and cancer incidence data. Sporadic breast cancer likely represents a portion of the high prevalence of family cancer history seen in this study. These results underline the importance of establishing presence of a deleterio us mutation in an affected family member, per NCCN guidelines, before testing unaffected relatives.
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
Conclusions: Nurses are at a higher risk of developing endometriosis. However, the link between endometriosis and subsequent cancers is weak.
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
Semin Respir Crit Care Med 2019; 40: 402-409 DOI: 10.1055/s-0039-1695050There are several pleural diseases that occur either predominantly or exclusively in females. Most of these entities are related to obstetric or gynecological conditions. In this article, we will provide an overview of Meigs' syndrome, ovarian hyperstimulation syndrome, endometriosis, catamenial pneumothorax, catamenial hemothorax, pleural effusions that occur in the peripartum period, lymphangioleiomyomatosis, and malignant pleural effusions related to breast cancer. As most of these diagnoses are rare, considerable expertise is required to identify, ...
Source: Seminars in Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Review Article Source Type: research
ConclusionPremenopausal Asian women with breast cancer have unique disease characteristics and may benefit from treatment that differs somewhat from international guidelines. Given the great diversity of patients and clinical settings worldwide, the ABCCG advocates evidence-based yet flexible and individualized use of all potential options to improve breast cancer outcomes.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
ConclusionsThe implementation of gene panels using NGS in the study of hereditary cancer involves the detection of heterozygous double mutations in genes of high and moderate penetrance for cancer, although with a low frequency.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
This study aimed to examine trends in the CPM rate according to clinicopathologic and socioeconomic status at a single institution in Korea. Methods: This study included 128 patients with mutations in BRCA1 or BRCA2. Patients were divided into a CPM group (n = 8) and a non-CPM group (n = 120) between May 2013 and March 2016. The main outcome variables, including epidemiology, clinical features, socioeconomic status, and tumor characteristics, were analyzed. Results: A total of 8 CPMs were performed among 128 patients. All CPM patients were married. The proportion of professional working women was higher in the CPM ...
Source: Annals of Surgical Treatment and Research - Category: Surgery Tags: Ann Surg Treat Res Source Type: research
Authors: Ferraro E, Trapani D, Marrucci E, Curigliano G Abstract Introduction: Triptorelin is a luteinizing hormone-releasing hormone analog (LH-RHa) inducing ovarian function suppression (OFS). It is approved by FDA and EMA in association with tamoxifen or aromatase inhibitor (AI) and with fulvestrant and palbociclib in premenopausal women with hormone receptor (HR)-positive breast cancer. Its potential role to preserve ovarian function during chemotherapy has also been recently clarified. Areas covered: Several studies have investigated the role of adding OFS to tamoxifen and aromatase inhibitors as adjuvant trea...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
Brivanib is a selective inhibitor of vascular endothelial growth factor and fibroblast growth factor (FGF) signalling. We performed a phase II randomised discontinuation trial of brivanib in 7 tumour types (soft-tissue sarcomas  [STS], ovarian cancer, breast cancer, pancreatic cancer, non-small-cell lung cancer [NSCLC], gastric/esophageal cancer and transitional cell carcinoma [TCC]).
Source: European Journal of Cancer - Category: Cancer & Oncology Authors: Tags: Original Research Source Type: research
Ovarian thecoma is a benign and rare neoplasm that accounts for 0.5% to 1% of all ovarian tumors. A 55-year-old woman with known breast cancer underwent a metastatic workup before surgery. The 99mTc-MDP whole-body bone scan revealed intense uptake in the left pelvic region. Hybrid SPECT/CT imaging showed that the elevated 99mTc-MDP activity was in a tumor with calcification in the left adnexa. Dynamic enhanced MRI revealed marked enhancement of the tumor. Resection of the tumor was subsequently performed, and pathologic analysis confirmed the diagnosis of an ovarian thecoma.
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
Paola Ulivi Dino Amadori Giovanni Martinelli Fabio Falcini Guglielmina Nadia Ranzani Daniele Calistri The main gene involved in gastric cancer (GC) predisposition is CDH1, the pathogenic variants of which are associated with diffuse-type gastric cancer (DGC) and lobular breast cancer (LBC). CDH1 only explains a fraction (10–50%) of patients suspected of DGC/LBC genetic predisposition. To identify novel susceptibility genes, thus improving the management of families at risk, we performed a multigene panel testing on selected patients. We searched for germline pathogenic variants in 94 cancer-related ...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
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