Evidence for Common Ancestral Origin of a Recurring <i>BRCA1</i> Genomic Rearrangement Identified in High-Risk Hispanic Families

Weitzel, Jeffrey N.; Lagos, Veronica I.; Herzog, Josef; Judkins, Thaddeus; Hendrickson, Brant C.; Ho, Jason S.; Ricker, Charité; Lowstuter, Katrina; Blazer, Kathleen R.; Tomlinson, Gail E.; Scholl, Tom

doi:10.1158/1055-9965.epi-07-0198

Cited by 93 publications

(115 citation statements)

References 37 publications

Supporting

Mentioning

107

Contrasting

Unclassified

Order By: Relevance

“…Although the incidence of BC in Hispanics is less than in non-Hispanic whites, our initial studies on the prevalence of deleterious mutations in BRCA1 and BRCA2 (BRCA) suggested they may account for a higher proportion of BC in Hispanics than other non-Ashkenazi Jewish populations. 1,2 We and others have documented that BRCA1 185delAG is a recurrent mutation in Hispanics, 1,3,4 occurring on the Jewish haplotype. 1,5 Deleterious large rearrangement BRCA mutations are not detectable by standard sequencing.…”

Section: Introductionmentioning

confidence: 97%

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

Weitzel

Clague

Martir-Negron

et al. 2013

JCO

Self Cite

147

160

View full text Add to dashboard Cite

A B S T R A C T 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 ϭ 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 ϭ 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.

show abstract

Section: Introductionmentioning

confidence: 97%

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

Weitzel

Clague

Martir-Negron

et al. 2013

JCO

Self Cite

147

160

View full text Add to dashboard Cite

show abstract

“…Several recent studies have documented the presence of BRCA mutations in Hispanic women (Mullineaux et al 2003;Weitzel et al 2005Weitzel et al , 2007. A population-based study from the Northern California Cancer Registry reported that Hispanic women with a personal history of breast cancer have the highest prevalence of BRCA1 mutations compared to other racial/ethnic minority groups (i.e., African American, Asian American) in the USA (John et al 2007).…”

Section: Introductionmentioning

confidence: 99%

“…A population-based study from the Northern California Cancer Registry reported that Hispanic women with a personal history of breast cancer have the highest prevalence of BRCA1 mutations compared to other racial/ethnic minority groups (i.e., African American, Asian American) in the USA (John et al 2007). However, existing studies in the USA documenting BRCA mutation prevalence in Hispanic populations were based on participants that were predominantly of Mexican origin (Mullineaux et al 2003;Weitzel et al 2005Weitzel et al , 2007.…”

Section: Introductionmentioning

confidence: 99%

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

et al. 2011

View full text Add to dashboard Cite

This study explored baseline levels of knowledge and attitude toward genetic testing (GT) for hereditary breast and ovarian cancer among Puerto Rican women. A secondary aim was to evaluate whether these factors differed between respondents in Puerto Rico and Tampa. Puerto Rican women with a personal or family history of breast or ovarian cancer who live in Puerto Rico (n=25) and Tampa (n=20) were interviewed. Both groups were interested in obtaining GT; women living in Puerto Rico were more likely to report they would get GT within 6 months (p=0.005). The most commonly cited barrier was cost; the most commonly cited facilitator was provider recommendation. There was no difference in overall knowledge between Tampa (M=5.15, SD=1.63) and Puerto Rico (M=5.00, SD=1.87) participants (p=0.78). Involving health care providers in recruitment and highlighting that GT may be available at minimal or no cost in the USA and Puerto Rico may facilitate participation.

show abstract

“…10 . There are several populations identified with founder mutations in these genes [33][34][35][36][37] . The most well-known is the Ashkenazi Jewish population in which 1 in 40 individuals is expected to have a BRCA1 or BRCA2 mutation 33 .…”

Section: Using Multigene Panels In Common Hereditary Cancersmentioning

confidence: 99%

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Stanislaw¹,

Xue²,

Wilcox³

2016

Cancer Biology &Amp; Medicine

View full text Add to dashboard Cite

The introduction of next-generation sequencing (NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation. Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members (pre-test counseling), explain to patients the implications of the test results (post-test counseling), and assist in testing family members at risk.

show abstract

Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families

Cited by 93 publications

References 37 publications

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

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

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Contact Info

Product

Resources

About