Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy

Miolo, Gianmaria; Puppa, Lara Della; Santarosa, Manuela; Giacomi, Clelia de; Veronesi, Andrea; Bidoli, Ettore; Tibiletti, Maria Grazia; Viel, Alessandra; Dolcetti, Riccardo

doi:10.1186/1471-2407-6-156

Cited by 15 publications

(13 citation statements)

References 33 publications

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“…BRCA1/2 mutations were more prevalent in men with a positive first-degree FH (17.9%) compared with those without (6.3%) and a threefold association emerged between a positive FH and carrier status, falling short of the level of statistical significance. It has been previously reported that BRCA1/2 mutations are more frequent in MBCs with a positive FH [23,29,33]. However, in our series, 50% of the mutations were identified in MBC cases without FH, thus from a clinical point of view, our data indicate that mutation screening is beneficial also among isolated MBC cases.…”

Section: Discussioncontrasting

confidence: 64%

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: Discussioncontrasting

confidence: 64%

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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“…Not surprisingly, BRCA mutations are found more often in men with a first-degree relative diagnosed with breast cancer (23). This highlights the importance of attention to family history by both physicians and patients, and of communication among family members.…”

Section: -------------------------------------------------mentioning

confidence: 92%

“…The lifetime risk for breast cancer in a male BRCA2 mutation carrier is ~7%, 80-100 times higher than for the general population (15,16,21). It is estimated that 4-40% of MBC patients carry a mutation in BRCA2 (12,(22)(23)(24). However, a precise estimate is limited because few studies have included populations of males who were not already diagnosed with breast cancer.…”

Section: Risk Factors For Mbcmentioning

confidence: 99%

Male breast cancer: Risk factors, diagnosis, and management (Review)

Taber¹

2010

Oncol Rep

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Abstract. Male breast cancer (MBC) is extremely rare, with an incidence in the general US population of <1%. It tends to be diagnosed at later stages than breast cancer in females, likely because of low awareness on the part of the patient and low suspicion by the physician. Risk factors include genetic predisposition, alterations to the estrogen-testosterone ratio, radiation exposure, and occupational hazards. Because of the rarity of MBC, mammography in men is more often utilized as a diagnostic tool to evaluate breast symptoms rather than as a tool for widespread screening. While clinical breast examinations are effective at evaluating breast symptoms, mammography also may be beneficial in separating malignant from benign breast disease. This study reviews MBC and its risk factors, recommendations for screening and diagnosis, the roles of mammography and genetic testing in surveillance, and management of patients with MBC. Heightened awareness of the increased risk in certain men by both physicians and patients, and adherence to guidelines recommended for the surveillance of men at increased risk, may result in earlier detection.

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“…We amplified patient tumor and blood DNA for two markers within BRCA1 (D17S855 and D17S1322) and four markers around BRCA2 (D13S290, D13S260, D13S1698, and D13S171). The heterozygosity for these markers ranged from 0.46 to 0.82 [17, 26]. Primer sequences and distance from BRCA1 or BRCA2 are given in Additional file 1 (Table S2).…”

Section: Methodsmentioning

confidence: 99%

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Rebbeck

Friebel²,

Mitra

et al. 2016

Breast Cancer Res

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BackgroundMost BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood.MethodsFrom 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2.ResultsThe majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC.ConclusionsOur observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.Electronic supplementary materialThe online version of this article (doi:10.1186/s13058-016-0768-3) contains supplementary material, which is available to authorized users.

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Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy

Abstract: Background: Breast cancer in men is an infrequent occurrence, accounting for ~1% of all breast tumors with an incidence of about 1:100,000. The relative rarity of male breast cancer (MBC) limits our understanding of the epidemiologic, genetic and clinical features of this tumor.

Cited by 15 publications

References 33 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

Male breast cancer: Risk factors, diagnosis, and management (Review)

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

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