Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer

Hoya, Miguel de la; Gutiérrez‐Enríquez, Sara; Velasco, Eladio A.; Osorio, Ana; Abajo, Ana Sánchez de; Vega, Ana; Salazar, Raquel; Barrado, E.; Llort, Gemma; González‐Sarmiento, Rogelio; Carracedo, Ángel; Benı́tez, Javier; Miner, Cristina; Dı́ez, Orland; Dı́az-Rubio, Eduardo; Caldés, Trinidad

doi:10.1373/clinchem.2006.070110

Cited by 62 publications

(67 citation statements)

References 21 publications

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“…Adding the three BRCA1 del (ex 9-12) mutations found among the sequence negative cases brings the overall prevalence of BRCA mutations in the cohort to 34% (37 of 110)-the large rearrangement representing 8.8% (3 of 37) of all BRCA carriers. This proportion of rearrangements among BRCA1-positive individuals is consistent with previous studies in European and American populations (3,4,6,(28)(29)(30)(31).…”

Section: Discussionsupporting

confidence: 92%

“…Primer sequences for chromosome 17 (D17S1320, D17S1321, D17S1322, D17S1323, D17S1327, and D17S1325) microsatellite markers were obtained from the Genome Database. 6 For map pair D17S855 (BRCA1), novel primers were designed (F: 5 ¶-TGCCATTTCTTTTCACTCTGG/R: 5 ¶-GCAAATAACTTGGGTATCACTTAAAA) to facilitate multiplex analysis of samples. All synthesis and labeling of primers with fluorescein derivatives (5 ¶ …”

Section: Methodsmentioning

confidence: 99%

“…Most BRCA rearrangements are unique; however, some BRCA1 rearrangements show apparent founder effect in European and American populations, five of which are included in the commercial assay in the United States (3)(4)(5)(6).…”

Section: Introductionmentioning

confidence: 99%

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

Weitzel

Lagos

Herzog

et al. 2007

Cancer Epidemiology, Biomarkers &Amp; Prevention

103

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Background: Large rearrangements account for 8% to 15% of deleterious BRCA mutations, although none have been characterized previously in individuals of Mexican ancestry. Methods: DNA from 106 Hispanic patients without an identifiable BRCA mutation by exonic sequence analysis was subjected to multiplexed quantitative differential PCR. One case of Native American and African American ancestry was identified via multiplex ligation-dependent probe amplification. Long-range PCR was used to confirm deletion events and to clone and sequence genomic breakpoints. Splicing patterns were derived by sequencing cDNA from reverse transcription-PCR of lymphoblastoid cell line RNA. Haplotype analysis was conducted for recurrent mutations. Results: The same deletion of BRCA1 exons 9 through 12 was identified in five unrelated families. Long-range PCR and

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Section: Discussionsupporting

confidence: 92%

Section: Methodsmentioning

confidence: 99%

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

Weitzel

Lagos

Herzog

et al. 2007

Cancer Epidemiology, Biomarkers &Amp; Prevention

103

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“…This loss of a part of the conservative BRCT domain is suggested to have a cancer susceptibility effect. Deletion of exons 1 through 24 represents a very rare event and was previously reported in one Spain [8] and one German family [39]. Australian populations [42]; and 0.86% in US HBOC families [43].…”

Section: It Seems Thatmentioning

confidence: 70%

“…The proportion of LGRs among the BRCA1 mutations in HBOC families seems to be population-dependent, varying from 2.1% in a series of Spanish breast/ovarian high-risk families [8] to 36% in the Dutch patients [9].…”

Section: Introductionmentioning

confidence: 95%

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia

Konečný

Milly

Zavodna

et al. 2011

Breast Cancer Res Treat

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Germline mutations in the BRCA1/2 genes account for the majority of hereditary breast ovarian cancer (HBOC).Identification of causal mutations may have significant impact on clinical management of such families. Despite high mutation detection rate, many HBOC cases remain without identified cause. These cases warrant use of several analysis methods, such as those for large genomic rearrangements and DNA copy number changes, or analysis other genes, shown to be associated with increased HBOC risk.We assessed 585 Slovak HBOC for presence of mutations in BRCA genes. Sequencing revealed mutations in 100 families, representing 17.1% (88% and 12% of mutations were located in BRCA1 and BRCA2, respectively).Four of the mutations, c.80+4del4, c.1938_1947del10 and c.1166delG in BRCA1 and c.6589delA in BRCA2 gene have been described only in Slovak population. Using MLPA analysis, we detected two large genomic rearrangements in 3 families, a deletion of exons 21 and 22, and a rare deletion of a whole BRCA1 gene. Twentyseven different variants of uncertain clinical effect (4 novel) and 14 distinct SNP BRCA1 haplotypes were detected. Their potential effect was considered using the prediction software packages Align GVGD, Pmut and Polyphen.We observed that the best clinical criterion for the initiation of BRCA1 analysis is the presence of breast cancer at 40 years of age in the association with the presence of ovarian cancer diagnosed around the age of 50.Conversely, the best clinical criterion for starting with BRCA2 analysis is the presence of breast cancer diagnosed in older age (above 50), or the presence of breast cancer in conjunction with carcinomas at different sites e.g. prostate, colorectum, ovary, uterus. Finally we have seen that the analyses of other HBOC risk gene TP53 and specific mutation in CHEK2*c.1100delC in Slovak HBOC families were not efficient since no mutations were found in these genes. 2

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Genetic Testing in Diverse Populations

Huo¹,

Olopade²

2007

JAMA

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Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer

Cited by 62 publications

References 21 publications

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

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

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia

Genetic Testing in Diverse Populations

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