Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression

Delgado, Lucı́a; Fernandez, Gina E.; González, Andrés; Paillerets, Brigitte Bressac-de; Gualco, Gabrıela; Bombled, Johny; Cataldi, Sandra; Sabini, Graciela; Roca, Ricardo; Musé, Ignacio

doi:10.1016/s0165-4608(01)00541-6

Cited by 12 publications

(10 citation statements)

References 12 publications

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“…The 4359ins6 mutation (family 3) was detected in a pair of identical female twins diagnosed at age 39. The characteristics of this family have been reported before [25]. The 5579insA mutation (family 9) was identified in a proband diagnosed with breast cancer at 43 years of age.…”

Section: Brca1 Mutationsmentioning

confidence: 96%

“…Genomic DNA was isolated from peripherical blood lymphocytes as previously described [25]. The complete coding sequence and exon-intron boundaries of BRCA1/2 were analyzed using a combination of protein truncation test (PTT) and heteroduplex analyses (HDA) followed by direct sequencing of the PCR products with variant bands.…”

Section: Brca1 and Brca2 Mutation Analysismentioning

confidence: 99%

“…The primer pairs published by Serova et al [27] were used to amplify exon 10 of BRCA2 in one fragment and exon 11 in four overlapping fragments. PTT was performed as previously described [25]. The remaining exons of BRCA1/ 2 were analyzed by HAD using previously described primers [7,27].…”

Section: Brca1 and Brca2 Mutation Analysismentioning

confidence: 99%

“…Sequencing of the PCR products corresponding to some of the PTT variant bands were performed in the Institut Gustave Roussy (Service de Génétique), France as previously described [25]. HDA variant bands and the other PTT variant bands were subjected to direct sequencing in Macrogen (DNA Sequencing Service), Korea.…”

Section: Brca1 and Brca2 Mutation Analysismentioning

confidence: 99%

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BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

Delgado¹,

Fernandez²,

Grotiuz³

et al. 2010

Breast Cancer Res Treat

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The aim of the present study was to analyze BRCA1 and BRCA2 mutations in Uruguayan families with breast and breast/ovarian cancer. Probands from 42 families with at least three cases of female breast cancer (BC) or two cases and subcriteria (paternal transmission, ovarian cancer, bilateral BC, male BC, Ashkenazi Jewish ancestry) in the same lineage, at least one diagnosed before age 50, were screened for germline mutations. PCR amplification of all exons and intron-exon boundaries were performed, followed by protein truncation test, heteroduplex analysis, and direct sequencing. We identified seven different truncating mutations in seven families, five in BRCA2 (three in site-specific BC families and two in breast-ovarian cancer families) and two in BRCA1 (one in a site-specific BC family and the other in a breast-ovarian cancer family). Both BRCA1 mutations (5583insT and 2687T>G) and one of the five BRCA2 mutations (3829insTdel35) were not previously reported. We also detected ten sequence variants of unknown significance, five of them not described before. The low frequency of BRCA1/2 mutations (0.17) is in agreement with that reported in studies which included families with similar selection criteria. However, the observed predominance of BRCA2 (0.12) over BRCA1 mutations (0.05) is in contrast with the higher proportion of BRCA1 mutations communicated for most previous studies, even those with a predominance of site-specific BC families. Meanwhile, it has been described in one Chilean and some Spanish and Italian reports, highlighting the strong dependence between the mutational spectra and the ethnicity of the population analyzed.

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Section: Brca1 Mutationsmentioning

confidence: 96%

Section: Brca1 and Brca2 Mutation Analysismentioning

confidence: 99%

Section: Brca1 and Brca2 Mutation Analysismentioning

confidence: 99%

Section: Brca1 and Brca2 Mutation Analysismentioning

confidence: 99%

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BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

Delgado¹,

Fernandez²,

Grotiuz³

et al. 2010

Breast Cancer Res Treat

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“…Although mutations in BRCA1 and BRCA2 seem to cause strikingly similar clinical disease in twins, 9 the penetrance of breast cancer varies between 28% and 85% among different populations carrying BRCA1 susceptibility alleles. 6,10,11 Therefore, genetic background can alter latency and clinical course of breast cancer.…”

mentioning

confidence: 99%

Genetic Mapping in Mice Identifies DMBT1 as a Candidate Modifier of Mammary Tumors and Breast Cancer Risk

Blackburn

Hill

Roberts

et al. 2007

The American Journal of Pathology

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Low-penetrance breast cancer susceptibility alleles seem to play a significant role in breast cancer risk but are difficult to identify in human cohorts. A genetic screen of 176 N2 backcross progeny of two Trp53 ؉/؊ strains, BALB/c and C57BL/6, which differ in their susceptibility to mammary tumors, identified a modifier of mammary tumor susceptibility in an ϳ25-Mb interval on mouse chromosome 7 (designated SuprMam1). Relative to heterozygotes, homozygosity for BALB/c alleles of SuprMam1 significantly decreased mammary tumor latency from 70.7 to 61.1 weeks and increased risk twofold (P ‫؍‬ 0.002). Dmbt1 (deleted in malignant brain tumors 1) was identified as a candidate modifier gene within the SuprMam1 interval because it was differentially expressed in mammary tissues from BALB/c-Trp53

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Molecular pathogenesis of bilateral breast cancer

Imyanitov

Hanson

2003

Cancer Letters

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Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression

Cited by 12 publications

References 12 publications

BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

Genetic Mapping in Mice Identifies DMBT1 as a Candidate Modifier of Mammary Tumors and Breast Cancer Risk

Molecular pathogenesis of bilateral breast cancer

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