scholarly journals Prevalence and Type ofBRCAMutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network

2013 ◽  
Vol 31 (2) ◽  
pp. 210-216 ◽  
Author(s):  
Jeffrey N. Weitzel ◽  
Jessica Clague ◽  
Arelis Martir-Negron ◽  
Raquel Ogaz ◽  
Josef Herzog ◽  
...  
Keyword(s):  
Breast Cancer ◽  
United States ◽  
Ovarian Cancer ◽  
Founder Mutation ◽  
The United States ◽  
Population Based ◽  
Cancer Risk Assessment ◽  
Brca Mutations ◽  
Large Rearrangement ◽  
Recurrent Mutations

PurposeTo determine the prevalence and type of BRCA1 and BRCA2 (BRCA) mutations among Hispanics in the Southwestern United States and their potential impact on genetic cancer risk assessment (GCRA).Patients and MethodsHispanics (n = 746) with a personal or family history of breast and/or ovarian cancer were enrolled in an institutional review board–approved registry and received GCRA and BRCA testing within a consortium of 14 clinics. Population-based Hispanic breast cancer cases (n = 492) enrolled in the Northern California Breast Cancer Family Registry, negative by sequencing for BRCA mutations, were analyzed for the presence of the BRCA1 ex9-12del large rearrangement.ResultsDeleterious BRCA mutations were detected in 189 (25%) of 746 familial clinic patients (124 BRCA1, 65 BRCA2); 21 (11%) of 189 were large rearrangement mutations, of which 62% (13 of 21) were BRCA1 ex9-12del. Nine recurrent mutations accounted for 53% of the total. Among these, BRCA1 ex9-12del seems to be a Mexican founder mutation and represents 10% to 12% of all BRCA1 mutations in clinic- and population-based cohorts in the United States.ConclusionBRCA mutations were prevalent in the largest study of Hispanic breast and/or ovarian cancer families in the United States to date, and a significant proportion were large rearrangement mutations. The high frequency of large rearrangement mutations warrants screening in every case. We document the first Mexican founder mutation (BRCA1 ex9-12del), which, along with other recurrent mutations, suggests the potential for a cost-effective panel approach to ancestry-informed GCRA.

scholarly journals Outcomes in Ovarian Cancer among Hispanic Women Living in the United States: A Population-Based Analysis

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Okechukwu A. Ibeanu ◽  
Teresa P. Díaz-Montes
Keyword(s):  
United States ◽  
Ovarian Cancer ◽  
Hispanic Women ◽  
Gynecologic Cancer ◽  
Stage Iv ◽  
The United States ◽  
Population Based ◽  
Similar Proportion ◽  
Survival Difference ◽  
The Usa

Introduction. Ovarian cancer is the deadliest gynecologic cancer in the United States. There is limited data on presentation and outcomes among Hispanic women with ovarian cancer. Objective. To investigate how ovarian cancer presents among Hispanic women in the USA and to analyze differences in presentation, staging, and survival between Hispanic and non-Hispanic women with ovarian cancer. Methods. Data from January 1, 2000 to December 31, 2004 were extracted from the National Cancer Institute’s Surveillance, Epidemiology and End Results (SEER) database. Results. The study sample comprised 1215 Hispanics (10%), 10 652 non-Hispanic whites (83%), and 905 non-Hispanic blacks (7%). Hispanic women were diagnosed with ovarian cancer at a younger age and earlier stage when compared to non-Hispanic whites, non-Hispanic blacks; . Similar proportion of Hispanics (33%), non-Hispanic whites (32%), and non-Hispanic blacks (24%) underwent lymphadenectomy; . Hispanics with epithelial ovarian cancer histology had longer five-year survival of 30.6 months compared to non-Hispanic whites (22.8 months) and non-Hispanic blacks (23.3 months); . Conclusion. Hispanic women with ovarian cancer have a statistically significantly longer median survival compared to whites and blacks. This survival difference was most apparent in patients with epithelial cancers and patients with stage IV disease.

Are Mastectomy Rates Really Increasing in the United States?

2010 ◽  
Vol 28 (21) ◽  
pp. 3437-3441 ◽  
Author(s):  
Elizabeth B. Habermann ◽  
Andrea Abbott ◽  
Helen M. Parsons ◽  
Beth A. Virnig ◽  
Waddah B. Al-Refaie ◽  
...  
Keyword(s):  
Breast Cancer ◽  
United States ◽  
Surgical Treatment ◽  
Cohort Analysis ◽  
The United States ◽  
Population Based ◽  
Single Institution ◽  
Mastectomy Rate ◽  
National Trends ◽  
Unilateral Mastectomy

Purpose After the National Institutes of Health Consensus Statement in 1990, breast-conserving surgery (BCS) became more common while mastectomy rates decreased. However, several recently published single-institution studies have reported an increase in mastectomy rates in the past decade. We conducted a population-based study to evaluate national trends in the surgical treatment of breast cancer from 2000 through 2006. Patients and Methods Using the Surveillance, Epidemiology, and End Results database, we conducted a retrospective cohort analysis of women undergoing surgical treatment for breast cancer. We evaluated variation in mastectomy rates by demographic and tumor factors and calculated differences in mastectomy rates across time. We utilized logistic regression to identify time trends and patient and tumor factors associated with mastectomy, testing for significance using two-sided methods. Results We identified 233,754 patients diagnosed with ductal carcinoma in situ or stage I to III unilateral breast cancer from 2000 to 2006. The proportion of women treated with mastectomy decreased from 40.8% in 2000 to 37.0% in 2006 (P < .001). These patterns were maintained across patient and tumor factors. Although the unilateral mastectomy rate decreased during the study period, the contralateral prophylactic mastectomy rate increased. Women were less likely to receive mastectomy over time (odds ratio, 1.18 for 2000 v 2006; 95% CI, 1.14 to 1.23; P < .0001), after adjusting for patient and tumor factors. Conclusion In contrast to single-institution studies, our population-based analysis found a decrease in unilateral mastectomy rates from 2000 to 2006 in the United States. Variations in referral patterns and patient selection are potential explanations for these differences between single institutions and national trends.

P126 EPIDEMIOLOGY AND RISK FACTORS OF BREAST CANCER IN INFLAMMATORY BOWEL DISEASE IN THE UNITED STATES BETWEEN 2014 AND 2019: A POPULATION-BASED STUDY

2020 ◽  
Vol 158 (3) ◽  
pp. S39-S40
Author(s):  
Emad Mansoor ◽  
Mohannad Abou-Saleh ◽  
Muhammad Talal Sarmini ◽  
Vijit Chouhan ◽  
Miguel Regueiro ◽  
...  
Keyword(s):  
Breast Cancer ◽  
United States ◽  
Risk Factors ◽  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
The United States ◽  
Population Based ◽  
Population Based Study ◽  
Inflammatory Bowel

scholarly journals Assessing the variations in breast/ovarian cancer risk for Chinese BRCA1/2 carriers

2020 ◽  
Author(s):  
Ang Li ◽  
Yi Zi ◽  
Jiaqi Luo ◽  
Xiaobin You ◽  
Zhaoji Lan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Founder Mutation ◽  
Ovarian Cancer Risk ◽  
Founder Mutations ◽  
Cancer Risks ◽  
Complete Penetrance ◽  
Cancer Cluster ◽  
Recurrent Mutations ◽  
Brca1 Carriers

Background: Cancer risks vary in different BRCA1/2 mutations. Previous studies based on Caucasian population have identified regions associated with elevated/reduced risks of breast/ovarian cancers. Since ethnic differences are known to affect BRCA1/2 mutation spectra, we are interested in defining Chinese-specific ovarian/breast cancer cluster regions (OCCR/BCCR) and comparing with previously reported Caucasian-based cluster regions. We also aim to characterize the distribution and estimate the cancer risks of different Chinese recurrent mutations. Methods: 7,919 (3,641 unselected cancer-free women + 4,278 female cancer patients) individuals were included in the study. Germline BRCA1/2 status were detected with amplicon-based next-generation sequencing. BRCA1/2 carriers were defined as bearing likely pathogenic or pathogenic mutations. We calculated odds ratio (OR) of breast cancer and OR of ovarian cancer, and their ratio of the two ORs (ROR) for each region. ROR > 1 indicated elevated odds of breast cancer and/or decreasing odds of ovarian cancer; ROR < 1 indicated increasing odds of ovarian cancer and/or decreasing breast cancer odds. The frequency, distribution and penetrance of six known Chinese founder mutations were characterize respectively. Haplotype analysis and age estimation were performed on the most prevalent and widely-spread founder mutation BRCA1:c.5470_5477del. Results: A total of 729 subjects were detected with germline BRCA1/2 deleterious mutations, including 236 BRCA1 and 122 BRCA2 mutations. The putative Chinese OCCR/BCCR are partially overlapped with Caucasian-based OCCR/BCCR and shared structural-functional characteristics. The six known Chinese founder mutations vary greatly in both distribution and penetrance. The two most prevalent and widely-spread mutations are estimated to convey low penetrance, while the area-restricted founder mutations seemed to confer higher or nearly complete penetrance. The most prevalent founder mutation BRCA1:c.5470_5477del accounting for 9.5% - 18% of BRCA1 carriers is estimated to have emerged ~2,090 years ago (70 B.C.) during the Han Dynasty, about 290 years (~14.5 generations) prior to the Three Kingdoms Period when a major population migration occurred. Conclusion: BRCA1/2 carriers with different genotypes have significantly different cancer risks. Hence ideally risk assessment should be mutation-specific, rather than concerning a single figure. The probably most ancient Chinese founder mutation may have originated more than 2,000 years ago.

Ovarian cancer treatment patterns and outcomes in the United States: A National Program of Cancer Registries (NPCR) study

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 15031-15031 ◽  
Author(s):  
S. L. Stewart ◽  
J. M. Wike ◽  
R. Cress ◽  
C. O’Malley ◽  
S. Neloms ◽  
...  
Keyword(s):  
United States ◽  
Ovarian Cancer ◽  
New York ◽  
Standard Of Care ◽  
Cancer Registries ◽  
The United States ◽  
Population Based ◽  
Simple Random Sample ◽  
Northern California ◽  
Patients Âgés

15031 Background: Ovarian cancer (ovca) is the fifth leading cause of cancer death among women in the United States. In 2001, the NPCR program (administered by the Centers for Disease Control and Prevention) initiated a multi-year study to determine the first course of treatment for ovca patients in order to assess whether the ovca standard of care (as defined by the NIH Physician Data Query) was met. Methods: Population-based cancer registries in Maryland, New York, and Northern California were funded to collect patient, tumor, provider, and treatment data on patients diagnosed in these areas between 1997 and 2000. Information was collected through a retrospective medical record abstraction; all ovca records in Northern California and Maryland were included in the study, a simple random sample of ovca medical records in New York was included. Data on over 3000 patients from Northern California and New York were obtained (about 1500 patients each); data on about 1000 patients from Maryland was obtained. Patient vital status was followed through 2002. Results: Most patients were non-Hispanic white and between the ages of 50 and 79. About 30% of the tumors were papillary serous cystadenocarcinomas and almost 40% were poorly differentiated; about 66% of tumors were distant stage at diagnosis. The percentage of distant stage diagnoses increased with increasing age through age 79. Over half of patients were treated by gynecologic oncologists; obstetrician/gynecologists treated a little over 10% of patients. Overall, over 80% of patients underwent cancer directed surgery; about 50% were treated with carboplatin and about 55% were treated with paclitaxel. Patients ages 70 and older received cancer-directed surgery less often than younger patients. Overall, about 50% of patients were alive at the end of the follow-up period, with the percentage alive within age categories decreasing with increasing age. Conclusions: Age remains a negative factor in ovca presentation, treatment, and survival. Continued assessment of ovca patterns of care will enhance ovca knowledge and may aid clinicians in determining appropriate treatments for their ovca patients. No significant financial relationships to disclose.

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