<i>BRCA1</i> and <i>BRCA2</i> Genetic Testing in Hispanic Patients: Mutation Prevalence and Evaluation of the BRCAPRO Risk Assessment Model

Vogel, Kristen J.; Atchley, Deann; Erlichman, Julie; Broglio, Kristine; Ready, Kaylene; Valero, Vicente; Amos, Christopher I.; Hortobágyi, Gabriel N.; Lu, Karen H.; Arun, Banu K.

doi:10.1200/jco.2006.10.4703

Cited by 64 publications

(44 citation statements)

References 39 publications

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“…All models showed a higher mutation probability in BRCA1 mutation carriers than that in non BRCA mutation carriers. The mean probabilities for BRCA1 mutation positive individuals predicted by BRCApro in this study were lower than what have reported previously in other ethnic, which ranged from 26 to 78% by BRCApro [11,20], and was similar to Vogel's report [22]. Of BRCA2 mutation carriers, the pre-test probabilities were not different from that of non BRCA mutation carriers.…”

Section: Discussionsupporting

confidence: 81%

Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients

Rao

et al. 2008

Breast Cancer Res Treat

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Section: Discussionsupporting

confidence: 81%

Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients

Rao

et al. 2008

Breast Cancer Res Treat

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“…Although relatively rare in our sample, this is the most commonly reported African founder [8,9]. The mutation has been reported in a family of Bahamian descent living in Florida [19], a French family from the Ivory Coast [27], and in many African-Americans families [8, 9,11,12,19,26,28]. The mutation was recently reported in a Mexican woman [29] and in three other patients of Latin American/ Caribbean background in the BIC database [20].…”

Section: Discussionmentioning

confidence: 93%

“…Several prevalence surveys of BRCA mutations have been conducted among women of African or AfricanAmerican descent [8][9][10][11][12][13][14][15]. These studies show that the spectrum of mutations among Africans is different from that of white women, but in most studies, the overall prevalence of mutations is comparable.…”

Section: Introductionmentioning

confidence: 99%

A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas

Donenberg

Lunn

Curling³

et al. 2010

Breast Cancer Res Treat

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The Bahamas is a group of islands in the Caribbean with a high incidence of early onset breast cancer. In isolated populations, the identification of founder mutations in cancer predisposing genes may facilitate genetic testing and counseling. To date, six distinct BRCA1 mutations have been found in patients from cancer families from the Bahamas. The frequencies of these mutant alleles have not been measured in a large series of unselected breast cancer patients from Bahamas. We studied 214 Bahamian women with invasive breast cancer, unselected for age or family history of cancer. All patients were screened for six mutations in the BRCA1 gene that have previously been reported in cancer patients from the Bahamas. A mutation was identified in 49 of the 214 breast cancer patients (23%). The mutation frequency was particularly high in women diagnosed before age 50 (33%) in women with a first-degree relative with breast or ovarian cancer (41%) and in women with bilateral breast cancer (58%). Approximately 23% of unselected cases of breast cancer in the Bahamian population are attributable to a founder mutation in the BRCA1 gene-this is the highest reported mutation prevalence for any country studied to date. Genetic testing for these mutations is advisable for all women diagnosed with breast cancer in the Bahamas.

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“…However, a lack of basic information about the prevalence and spectrum of BRCA mutations hinders research progress on the etiology (6) and risk evaluation of model of breast cancer prevention in China. Additionally, because of the large presence of ethnic-specific contexts (11)(12)(13)(14), the Western risk evaluation models do not apply well to China. Therefore, the following paper assembled a wide-range clinic-based cross-sectional study of hereditary risk among BC patients, who were representative for BRCA mutations study.…”

Section: Introductionmentioning

confidence: 99%

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

et al. 2018

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Abstract. Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC).Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samples from all participants. 437 BC patients were included. A total of seventy-six (17.4%) mutation carriers were identified with no geographic difference. The mutation rate in the early-onset BC patients was lower compared to family history of breast/ovarian cancer (OC), bilateral BC, male BC, BC&OC or meeting ≥2 criteria (9.2 vs. 21.7, 24.0, 22.2, 16.7 and 24.3%, respectively, P=0.007). A total of 61 mutation sites were identified (BRCA1 32, BRCA2 29) including 47.5% novel sites and extra 10 variants of uncertain significance. A total of five sites were repeated in more than one unrelated patient. A total of 11 sites were associated with hereditary breast and ovarian cancer syndrome, two of which were confirmed by family pedigrees. Compared with BRCA -patients, patients with BRCA1 mutation tended to be triple-negative BC (P<0.001), whereas patients with BRCA2 mutation were more likely to be hormone receptor positive

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BRCA1 and BRCA2 Genetic Testing in Hispanic Patients: Mutation Prevalence and Evaluation of the BRCAPRO Risk Assessment Model

Abstract: Deleterious BRCA1 and BRCA2 mutations occur at considerable frequency within the Hispanic population, many of which have been identified previously in other ethnic populations. The BRCAPRO model appears to perform equally well in Hispanics as in whites.

Cited by 64 publications

References 39 publications

Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients

Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients

A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

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