Prevalence and Type of<i>BRCA</i>Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network

Weitzel, Jeffrey N.; Clague, Jessica; Martir-Negron, Arelis; Ogaz, Raquel; Herzog, Josef; Ricker, Charité; Jungbluth, Chelsy; Cina, C.; Duncan, P. R.; Unzeitig, Gary; Saldivar, Juan‐Sebastian; Beattie, Mary; Feldman, Nancy; Sand, Sharon; Port, Danielle; Barragan, Deborah I.; John, Esther M.; Neuhausen, Susan L.; Larson, Garrett P.

doi:10.1200/jco.2011.41.0027

Cited by 145 publications

(180 citation statements)

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“…4,5,17 We were able to confirm these findings. More specifically BART-positive individuals were significantly more likely to be of Latin American/Caribbean ancestry compared with BART-negative individuals (paternal ancestry: OR 5 5.95, P 5 .0001; maternal ancestry: OR 5 4.14, P 5 .0003, respectively).…”

Section: Discussionsupporting

confidence: 80%

“…4 A recent publication from the City of Hope also suggested that individuals of Hispanic origin have a high prevalence of LR. 5 We assembled data from 6 centers in the United States on individuals who initially tested negative for the Comprehensive BRACAnalysis test and had BART testing. Our objective was to find factors that were associated with a positive BART test (excluding the LRP) and to design a predictive and clinically useful model for BART positivity.…”

Section: Introductionmentioning

confidence: 99%

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Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2

Jackson¹,

Davis²,

et al. 2014

Cancer

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; and the Northwestern Cancer Genetics Group BACKGROUND: Large rearrangements in BRCA1 and BRCA2 occur in a small percentage (< 1%) of patients tested for hereditary breast (BC) and ovarian cancer. It is unclear what factors predict BRACAnalysis Large Rearrangement Test (BART) positivity. METH-ODS: Data from 6 centers were included in this analysis. Individuals with negative Comprehensive BRACAnalysis tested for BART were included. RESULTS: From 1300 individuals, 42 (3.2%) were BART positivity. Factors positively associated with BART positivity were Myriad score, first-degree relatives with BC, infiltrating BC with ductal carcinoma in situ, younger age at BC diagnosis, estrogen receptor-negative BC for both the first and second BC, and Latin American/Caribbean ethnicity. Presence of unilateral BC was inversely associated with BART positivity. Several analyses were performed on the variables available to find the model that best predicts for BART positivity. The BART predictive model, including first BC, ovarian cancer, primary maternal ancestry being Latin America/Caribbean, number of first-degree relatives with BC of 1 or more versus 0, and family history of prostate and pancreatic cancer, had good predictive ability with an area under the curve of 0.77. CONCLUSIONS: Several factors are significantly associated with BART positivity. Among them we have found that Latin American/Caribbean ancestry, Myriad score, first degree relatives with BC, younger age at BC diagnosis, estrogen receptor-negative status of BC, and infiltrating ductal carcinoma with ductal carcinoma in situ features are significantly associated with BART positivity. A BART predictive model may help in a clinical setting. Cancer 2014;120:1557-64.

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Section: Discussionsupporting

confidence: 80%

Section: Introductionmentioning

confidence: 99%

Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2

Jackson¹,

Davis²,

et al. 2014

Cancer

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“…[18][19][20][21][22][23][24][25] Diagnosing BRCA mutations triggers preventive measures in relatives, which contributes to the value of such screening approaches. 21 The identification of a prevalent founder mutation in a very specific part of the Tyrol may facilitate a long-term study to examine the true sensitivity, usefulness, and cost-effectiveness of routine testing of breast or ovarian cancer patients without any selection based on established HBOC criteria.…”

Section: Discussionmentioning

confidence: 99%

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

et al. 2015

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Screening for founder mutations in BRCA1 and BRCA2 has been discussed as a cost-effective testing strategy in certain populations. In this study, comprehensive BRCA1 and BRCA2 testing was performed in a routine diagnostic setting. The prevalence of the BRCA1 stop mutation c. 4183C4T, p.(Gln1395Ter), was determined in unselected breast and ovarian cancer patients from different regions in the Tyrol. Cancer registry data were used to evaluate the impact of this mutation on regional cancer incidence. The mutation c.4183C4T was detected in 30.4% of hereditary BRCA1-associated breast and ovarian cancer patients in our cohort. It was also identified in 4.1% of unselected (26% of unselected triple negative) Tyrolean breast cancer patients and 6.8% of unselected ovarian cancer patients from the Lower Inn Valley (LIV) region. Cancer incidences showed a region-specific increase in age-stratified breast and ovarian cancer risk with standardized incidence ratios of 1.23 and 2.13, respectively. We, thus, report a Tyrolean BRCA1 founder mutation that correlates to a local increase in the breast and ovarian cancer risks. On the basis of its high prevalence, we suggest that targeted genetic analysis should be offered to all women with breast or ovarian cancer and ancestry from the LIV region. European Journal of Human Genetics (2016) 24, 258-262; doi:10.1038/ejhg.2015.108; published online 27 May 2015 INTRODUCTIONA central aim of preventive oncology is the identification of patients with a heritable predisposition to cancer. An estimated 1-7% of unselected breast cancer patients 1-4 and 6-17% of women with ovarian cancer 5,6 have hereditary breast and ovarian cancer (HBOC) disposition caused by variants in either BRCA1 or BRCA2 that confer a high risk of developing cancer. In agreement with a widely used terminology, such variants will be called mutations throughout this paper. Because of high costs, comprehensive molecular analyses for HBOC are usually restricted to individuals with a suggestive family history, young age, or several independent tumours. Tumour characteristics (triple-negative breast cancer; TNBC) are also used for the identification of patients with a high probability of carrying a BRCA mutation. 7,8 Reduced costs of novel sequencing methods and better knowledge of the clinical relevance of alterations in BRCA1 and BRCA2 will increase the number of individuals eligible for sequence analysis, although some selection process will still remain necessary in the foreseeable future. Identification of common founder mutations in certain ethnicities allows integration of genetic testing strategies in the routine care of all cancer patients. Here we report the identification of a highly prevalent BRCA1 founder mutation in a particular region of the Tyrol and consider the implications for a screening programme offered to all breast and ovarian cancer patients in this region.

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“…Weitzel et al evaluated 746 self-reported Hispanics (mostly from Mexico and Central America) with personal or family history of breast or ovarian cancer who underwent BRCA testing in the City of Hope Clinical Cancer Genetics Community Research Network (southwestern United States) [33]. Deleterious BRCA mutations were detected in 189 (25%; 124 BRCA1 and 65 BRCA2) and 21 (11%) of them were large rearrangement (BRCA1 ex9-12del in 13 cases).…”

Section: Clinicomolecular Features Of Hostmentioning

confidence: 99%

Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

Castañeda

Castillo

Villarreal‐Garza

et al. 2018

Breast Cancer Manag.

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Practice pointsr Latinas with breast cancer have been associated with lower prevalence and higher mortality rates. r The access to healthcare system for Latinas has been described as lower than for white women. r Rates of grade III and triple-negative phenotype breast cancer are higher for Latinas than for white women. r BRCA mutation prevalence appears to be higher in Latinas than white women in the American population. r Distribution of BRCA mutation differs by country in Central, Latin America or Caribbean and recurrent mutations have been described in Mexico. r Finally, evaluated information about treatment efficacy and toxicity in Latinas with breast cancer indicate similar effects than in the white race.Breast cancer is a heterogeneous and genetic disease that has variability according to ethnicity and race with respect to incidence, clinical characteristics and prognosis. The incidence of breast cancer is lower but mortality is higher in Latinas than Caucasians in the US series. Risk factors appear to have different prevalence and impact in Latinas. Breast cancer in Latinas has particular clinic-pathological features including younger age, higher rates of triple-negative subtype and advanced stages. Molecular studies find that Latinas from every region have a specific BRCA incidence and a recurrent mutation, as well as differences in activity of molecular pathways. Treatment response rates and toxicity have also been compared, and no difference was found between Latinas and other ethnic groups.

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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

Cited by 145 publications

References 45 publications

Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2

Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

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