Large Genomic Rearrangement in BRCA1 and BRCA2 and Clinical Characteristics of Men with Breast Cancer in the United States

2007 ◽  
Vol 7 (8) ◽  
pp. 627-633 ◽  
Author(s):  
Julia Tchou ◽  
M. Renee Ward ◽  
Patricia Volpe ◽  
Maurizia Dalla Palma ◽  
C. Angelina Medina ◽  
...  
2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Sarra Henouda ◽  
Assia Bensalem ◽  
Rym Reggad ◽  
Nedda Serrar ◽  
Leila Rouabah ◽  
...  

Breast cancer is the most common female malignancy and the leading cancer mortality cause among Algerian women. Germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast cancer have not been clearly identified within the Algerian population. It is necessary to study the BRCA1/2 genes involvement in the Algerian breast cancer occurrence. We performed this study to define germline mutations in BRCA1/2 and their implication in breast cancer among young women from eastern Algeria diagnosed or treated with primary invasive breast cancer at the age of 40 or less who were referred to Anti-Cancer Center of Setif, Algeria. Case series were unselected for family history. Eight distinct pathogenic mutations were identified in eight unrelated families. Three deleterious mutations and one large genomic rearrangement involving deletion of exon 2 were found in BRCA1 gene. In addition, four mutations within the BRCA2 gene and one large genomic rearrangement were identified. Novel mutation was found among Algerian population. Moreover, five variants of uncertain clinical significance and favor polymorphisms were identified. Our data suggest that BRCA1/2 mutations are responsible for a significant proportion of breast cancer in Algerian young women.


2014 ◽  
Vol 13 (2) ◽  
pp. 205-211 ◽  
Author(s):  
Ja Young Cho ◽  
Dae-Yeon Cho ◽  
Sei Hyun Ahn ◽  
Su-Youn Choi ◽  
Inkyung Shin ◽  
...  

2006 ◽  
Vol 24 (6) ◽  
pp. 863-871 ◽  
Author(s):  
Sining Chen ◽  
Edwin S. Iversen ◽  
Tara Friebel ◽  
Dianne Finkelstein ◽  
Barbara L. Weber ◽  
...  

Purpose An accurate evaluation of the penetrance of BRCA1 and BRCA2 mutations is essential to the identification and clinical management of families at high risk of breast and ovarian cancer. Existing studies have focused on Ashkenazi Jews (AJ) or on families from outside the United States. In this article, we consider the US population using the largest US-based cohort to date of both AJ and non-AJ families. Methods We collected 676 AJ families and 1,272 families of other ethnicities through the Cancer Genetics Network. Two hundred eighty-two AJ families were population based, whereas the remainder was collected through counseling clinics. We used a retrospective likelihood approach to correct for bias induced by oversampling of participants with a positive family history. Our approach takes full advantage of detailed family history information and the Mendelian transmission of mutated alleles in the family. Results In the US population, the estimated cumulative breast cancer risk at age 70 years was 0.46 (95% CI, 0.39 to 0.54) in BRCA1 carriers and 0.43 (95% CI, 0.36 to 0.51) in BRCA2 carriers, whereas ovarian cancer risk was 0.39 (95% CI, 0.30 to 0.50) in BRCA1 carriers and 0.22 (95% CI, 0.14 to 0.32) in BRCA2 carriers. We also reported the prospective risks of developing cancer for cancer-free carriers in 10-year age intervals. We noted a rapid decrease in the relative risk of breast cancer with age and derived its implication for genetic counseling. Conclusion The penetrance of BRCA mutations in the United States is largely consistent with previous studies on Western populations given the large CIs on existing estimates. However, the absolute cumulative risks are on the lower end of the spectrum.


2020 ◽  
pp. 1-10
Author(s):  
Jeremy S. Ruthberg ◽  
Chandruganesh Rasendran ◽  
Armine Kocharyan ◽  
Sarah E. Mowry ◽  
Todd D. Otteson

BACKGROUND: Vertigo and dizziness are extremely common conditions in the adult population and therefore place a significant social and economic burden on both patients and the healthcare system. However, limited information is available for the economic burden of vertigo and dizziness across various health care settings. OBJECTIVE: Estimate the economic burden of vertigo and dizziness, controlling for demographic, socioeconomic, and clinical comorbidities. METHODS: A retrospective analysis of data from the Medical Expenditures Panel Survey (2007–2015) was performed to analyze individuals with vertigo or dizziness from a nationally representative sample of the United States. Participants were included via self-reported data and International Classification of Diseases, 9th Revision Clinical Modification codes. A cross-validated 2-component generalized linear model was utilized to assess vertigo and dizziness expenditures across demographic, socioeconomic and clinical characteristics while controlling for covariates. Costs and utilization across various health care service sectors, including inpatient, outpatient, emergency department, home health, and prescription medications were evaluated. RESULTS: Of 221,273 patients over 18 years, 5,275 (66% female, 34% male) reported either vertigo or dizziness during 2007–2015. More patients with vertigo or dizziness were female, older, non-Hispanic Caucasian, publicly insured, and had significant clinical comorbidities compared to patients without either condition. Furthermore, each of these demographic, socioeconomic, and clinical characteristics lead to significantly elevated costs due to having these conditions for patients. Significantly higher medical expenditures and utilization across various healthcare sectors were associated with vertigo or dizziness (p <  0.001). The mean incremental annual healthcare expenditure directly associated with vertigo or dizziness was $2,658.73 (95% CI: 1868.79, 3385.66) after controlling for socioeconomic and demographic characteristics. Total annual medical expenditures for patients with dizziness or vertigo was $48.1 billion. CONCLUSION: Vertigo and dizziness lead to substantial expenses for patients across various healthcare settings. Determining how to limit costs and improve the delivery of care for these patients is of the utmost importance given the severe morbidity, disruption to daily living, and major socioeconomic burden associated with these conditions.


Cancer ◽  
2015 ◽  
Vol 121 (9) ◽  
pp. 1369-1378 ◽  
Author(s):  
Kimberly H. Allison ◽  
Linn A. Abraham ◽  
Donald L. Weaver ◽  
Anna N. A. Tosteson ◽  
Heidi D. Nelson ◽  
...  

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