Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

被引：10

作者：

Rizzolo, Piera ^{[1
]}

Silvestri, Valentina ^{[1
]}

Valentini, Virginia ^{[1
]}

Zelli, Veronica ^{[1
]}

Bucalo, Agostino ^{[1
]}

Zanna, Ines ^{[2
]}

Bianchi, Simonetta ^{[3
]}

Tibiletti, Maria Grazia ^{[4
,5
]}

Russo, Antonio ^{[6
]}

Varesco, Liliana ^{[7
]}

Tedaldi, Gianluca ^{[8
]}

Bonanni, Bernardo ^{[9
]}

Azzollini, Jacopo ^{[10
]}

Manoukian, Siranoush ^{[10
]}

Coppa, Anna ^{[11
]}

Giannini, Giuseppe ^{[1
]}

Cortesi, Laura ^{[12
]}

Viel, Alessandra ^{[13
]}

Montagna, Marco ^{[14
]}

Peterlongo, Paolo ^{[15
]}

Radice, Paolo ^{[16
]}

Palli, Domenico ^{[2
]}

Ottini, Laura ^{[1
]}

机构：

[1] Sapienza Univ Rome, Dept Mol Med, Rome, Italy

[2] Inst Canc Res Prevent & Clin Network ISPRO, Canc Risk Factors & Lifestyle Epidemiol Unit, Florence, Italy

[3] Univ Florence, Dept Sci Hlth, Div Pathol Anat, Florence, Italy

[4] Univ Insubria, ASST Settelaghi, Dept Pathol, Varese, Italy

[5] Univ Insubria, Ctr Ric Studio Tumori Eredo Familiari, Varese, Italy

[6] Univ Palermo, Dept Surg & Oncol & Oral Sci, Sect Med Oncol, Palermo, Italy

[7] IRCCS, Osped Policlin San Martino, Genoa, Italy

[8] IRCCS, Ist Sci Romagnolo Studio & Cura Tumori IRST, Biosci Lab, Meldola, Italy

[9] IRCCS, Div Canc Prevent & Genet IEO, European Inst Oncol, Milan, Italy

[10] Fdn IRCCS Ist Nazl Tumori INT, Dept Med Oncol & Hematol, Unit Med Genet, Milan, Italy

[11] Sapienza Univ Rome, Dept Expt Med, Rome, Italy

[12] Univ Modena & Reggio Emilia, Dept Oncol & Haematol, Modena, Italy

[13] IRCCS, Ctr Riferimento Oncol Aviano CRO, Unit Funct Oncogenom & Genet, Aviano, Italy

[14] IRCCS, Veneto Inst Oncol IOV, Immunol & Mol Oncol Unit, Padua, Italy

[15] FIRC Inst Mol Oncol, IFOM, Genome Diagnost Program, Milan, Italy

[16] Fdn IRCCS Ist Nazl Tumori INT, Dept Res, Unit Mol Bases Genet Risk & Genet Testing, Milan, Italy

来源：

ENDOCRINE CONNECTIONS | 2019年 / 8卷 / 08期

关键词：

male breast cancer; CYP17A1; CYP1B1; polymorphisms; male breast cancer risk; GENE; ASSOCIATION; BRCA1;

D O I：

10.1530/EC-19-0225

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Breast cancer in men is a rare and still poorly characterized disease. Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition. Male breast cancer is considered a hormone-dependent tumor specifically related to hyperestrogenism. Polymorphisms in genes involved in estrogen biosynthesis and metabolism pathways, such as CYP17A1 and CYP1B1, have been associated with breast cancer risk. Here, we aimed to investigate the role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk. A series of 597 male breast cancer cases and 1022 male controls, recruited within the Italian Multicenter Study on male breast cancer, was genotyped for CYP17A1 rs743572, CYP1B1 rs1056836 and rs1800440 polymorphisms by allelic discrimination real-time PCR with TaqMan probes. Associations with male breast cancer risk were estimated using logistic regression. No statistically significant associations between male breast cancer risk and the three analyzed polymorphisms emerged. Similar results were obtained also when BRCA1/2 mutational status was considered. No significant differences in the distribution of the genotypes according to estrogen receptor status emerged. In conclusion, our study, based on a large series of male breast cancer cases, is likely to exclude a relevant role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer predisposition. Overall, these results add new data to the increasing evidence that polymorphisms in these genes may not be associated with breast cancer risk.

引用

页码：1224 / 1229

页数：6

共 33 条

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