Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: Evidence from 261 cases in Israel, 1976–1999

Chodick, Gabriel; Struewing, Jeffery P.; Ron, Elaine; Rutter, Joni L.; Iscovich, José

doi:10.1016/j.ejmg.2007.11.001

Cited by 20 publications

(10 citation statements)

References 21 publications

(18 reference statements)

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“…Here, we report the results of a large population-based study of 108 Italian MBC cases, from Tuscany (Central Italy), performed to investigate the prevalence and spectrum of BRCA1/2 germ-line mutations and to characterize Overall, the BRCA1/2 mutations prevalence (9.3%) observed in our population-based series is comparable with those reported in MBCs unselected by FH from other different populations [23,[28][29][30]. Although BRCA2 mutations are currently considered as the major genetic risk factor for MBC, the association between MBC and BRCA1 mutations is not as well established [3].…”

Section: Discussionsupporting

confidence: 88%

BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy

Ottini

Rizzolo

Zanna

et al. 2008

Breast Cancer Res Treat

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To investigate the genetic and phenotypic characteristics of MBC in a large and well-characterized population-based series of 108 MBCs from Tuscany (Central Italy) and to evaluate associations between BRCA1/BRCA2 mutation status and clinical-pathological features including breast/ovarian cancer first-degree family history, tumor histology and grade, proliferative activity, estrogen/progesterone receptors (ER/PR) and epidermal growth factor receptor 2 (HER2) expression. Results BRCA1/BRCA2 mutations were identified in ten MBCs, in particular, two cases (1.9%) carried BRCA1 and eight cases (7.4%) carried BRCA2 mutations. The same BRCA1 mutation (3347delAG) was detected in two unrelated MBC cases. Three novel BRCA2 pathogenic mutations were found. Statistically significant associations emerged between BRCA2-related tumors and absence of PR expression (P = 0.008), HER2 over-expression (P = 0.002) and high tumor grade (P = 0.005). Conclusions Here, we (i) reported that in our population about 9% of MBC cases are accounted for by BRCA1/BRCA2 mutations; (ii) enlarged the BRCA2 mutational spectrum and (iii) characterized a specific phenotype associated with BRCA2-related MBCs suggestive of aggressive behavior. Overall, our results may have important implications on clinical management for this rare disease.

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Section: Discussionsupporting

confidence: 88%

BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy

Ottini

Rizzolo

Zanna

et al. 2008

Breast Cancer Res Treat

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“…In an analysis of 261 MBC cases in Israel seen in the years 1976-1999, 8.6% had BRCA2 germ line mutations and 3.3% had BRCA1 mutations [18]. In a study of 60 MBC patients in Australia and New Zealand, 41.7% had BRCA2 mutations and 5% BRCA1 mutations [19].…”

Section: Discussionmentioning

confidence: 99%

The 21-Gene Recurrence Score Assay (Oncotype DX™) in Estrogen Receptor-Positive Male Breast Cancer: Experience in an Israeli Cohort

et al. 2014

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Objective: The 21-gene recurrence score (RS) assay has been widely adopted for use in early estrogen receptor (ER)-positive breast cancer to assess the risk for distant recurrence and the potential benefit of adjuvant chemotherapy. The primary aim of this study was to assess RS distribution in Israeli male breast cancer (MBC) patients. Methods: The study population included 65 newly diagnosed Israeli MBC patients. Clinical and pathologic data were collected at the time of referral. Pathologic examinations were conducted at the pathology departments of the referring centers. The RS assay (Oncotype DX™) was performed on paraffin-embedded tumor samples at Genomic Health laboratories. Results: The mean age of the patients was 65.1 years (range 38-88 years). Low-risk (RS <18), intermediate-risk (RS 18-30) and high-risk (RS ≥31) scores were noted in 29 patients (44.6%), 27 patients (41.5%) and 9 patients (13.9%), respectively. The distribution of RS in male patients was similar to the distribution in 2,455 female patients from Israel referred during the same time period. Conclusion: Our data suggest that the distribution of Oncotype DX RS in ER-positive MBC patients is similar to that of female breast cancer patients.

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“…The frame shift mutation 10323delCins11 occurring in exon 27 also should be regarded as belonging to changes of indefinite biological effect (according to BIC). The group of detected mutations is completed with nine intron changes in exons 8,11,12,14,15,17,22 and a G203A change in the non-encoding 5 0 UTR segment of exon 2.…”

Section: Resultsmentioning

confidence: 99%

“…Therefore, 5467insT, 6174delT and 6192delAT mutations exert a particular effect on double DNA strand repair function and strongly predispose to breast cancer development. The 6174delT mutation included in the BIC [13] database is the change occurring most frequently in the population of Ashkenazi Jews, both women and men with breast cancer Codick et al [14] and also Distelman-Menachem et al [15].…”

Section: Discussionmentioning

confidence: 99%

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland

et al. 2010

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Identification of mutations in the BRCA2 gene and estimation of their clinical consequences for women and men treated in the Maria Sklodowska-Curie Memorial Cancer Center Warsaw, Poland in the years 1998-2008. The probands (97 women and 8 men) had a family history of breast and ovarian cancer (median age 46). The presence of molecular changes was examined in DNA isolated from peripheral blood lymphocytes. Germline mutations in 27 exons of the BRCA2 gene were screened by 'touchdown' PCR amplification, DHPLC and sequencing. Missense mutations were classified by multiple-sequences alignments of orthologous BRCA2 protein sequences with T-Coffee software. 39 molecular changes (8 novel) were identified in the BRCA2 gene in 105 investigated patients. In 12 patients the following pathogenic mutations were identified: 5467insT, 6174delT, 6192delAT, 6675delTA, 8141del5, 9152delT, 9326insA, 9631delC, IVS23-2A > G and E394X. The presence of 10 missense type mutations was detected including the following: D1420O, T1915 M, N3124I. The determination of pathogenic status of molecular variants detected in BRCA2 gene, described in the BIC mutation database as 'UV' depends on many parameters. Important is the assessment of the evolutionary conservation of their protein sequences and studying of the frequency of molecular variants detected in breast cancer patients and in population. A high diversity was found of the pathogenic mutations detected in BRCA2 gene in the Polish population.

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Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: Evidence from 261 cases in Israel, 1976–1999

Cited by 20 publications

References 21 publications

BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy

BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy

The 21-Gene Recurrence Score Assay (Oncotype DX™) in Estrogen Receptor-Positive Male Breast Cancer: Experience in an Israeli Cohort

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland

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