Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

Rizzolo, Piera; Silvestri, Valentina; Valentini, Virginia; Zelli, Veronica; Bucalo, Agostino; Zanna, Ines; Bianchi, Simonetta; Tibiletti, Maria Grazia; Russo, Antonio; Varesco, Liliana; Tedaldi, Gianluca; Bonanni, Bernardo; Azzollini, Jacopo; Manoukian, Siranoush; Coppa, Anna; Giannini, Giuseppe; Cortesi, Laura; Viel, Alessandra; Montagna, Marco; Peterlongo, Paolo; Radice, Paolo; Palli, Domenico; Ottini, Laura

doi:10.1530/ec-19-0225

Cited by 7 publications

(5 citation statements)

References 32 publications

(63 reference statements)

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“…Another Italian study suggested that SULT1A1 p.Arg213His polymorphism (rs9282861) would act as a low-penetrance risk allele for MBC and would be associate with HER2 overexpression in tumors [ 133 ]. A polymorphism in the CYP17 gene leading to increased serum levels of estrogen was initially suggested to be implicated in the development of MBC [ 134 ], but a larger recent study ruled out that possibility [ 135 ].…”

Section: Inherited Pathogenic Variants Contribution To Mbc Developmentmentioning

confidence: 99%

Genetic Landscape of Male Breast Cancer

Campos

Rouleau

Torrezan

et al. 2021

Cancers

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Male breast cancer (MBC) is now considered molecularly different from female breast cancer (FBC). Evidence from studies indicates that common genetic and epigenetic features of FBC are not shared with those diagnosed in men. Genetic predisposition is likely to play a significant role in the tumorigenesis of this rare disease. Inherited germline variants in BRCA1 and BRCA2 account for around 2% and 10% of MBC cases, respectively, and the lifetime risk of breast cancer for men harboring BRCA1 and BRCA2 mutations is 1.2% and 6.8%. As for FBC, pathogenic mutations in other breast cancer genes have also been recently associated with an increased risk of MBC, such as PALB2 and CHEK2 mutations. However, while multigene germline panels have been extensively performed for BC female patients, the rarity of MBC has resulted in limited data to allow the understanding of the magnitude of risk and the contribution of recently identified moderate penetrance genes of FBC for MBC predisposition. This review gathers available data about the germline genetic landscape of men affected by breast cancer, estimated risk associated with these genetic variants, and current guidelines for clinical management.

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Section: Inherited Pathogenic Variants Contribution To Mbc Developmentmentioning

confidence: 99%

Genetic Landscape of Male Breast Cancer

Campos

Rouleau

Torrezan

et al. 2021

Cancers

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“…Rizzolo et al in their study assessing 597 male breast cancers with 1022 controls found out that CYP17A1 and CYP1B1 polymorphisms do not contribute significant risk of male breast cancer [12].…”

Section: Geneticsmentioning

confidence: 96%

Male Breast Cancer: An Updated Review of Patient Characteristics, Genetics, and Outcome

Khare,

Huda,

Misra

et al. 2024

International Journal of Breast Cancer

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Male breast cancer (MBC) is a rare entity, underrepresented in population studies and clinical trials, resulting in management of MBC to be informed by current research on female breast cancer (FBC). A literature review was conducted by accessing relevant articles on 2 databases, by searching keywords “male breast cancer”. A total of 29 articles from year 2011 to 2022 were selected for this review. The authors found that male breast cancer generally occurs later in life with higher stage, higher grade, and more estrogen receptor (ER) positive tumours. Most of the studies noted the mean age for MBCs at the time of presentation as >60 years. Risk factors for male breast cancer include family history, obesity, lower physical activity, and syndromes like the Klinefelter syndrome. Positive family history is much higher in MBC compared to FBC (30.9 vs. 18.4%). BRCA 2 cancers constitute a higher proportion compared to FBCs. A lot of genetic mutations have been observed. Some show promise to assess disease-specific survival and proliferative rate like TWIST1 and RUNX3, among others. MBCs usually present with a palpable lump in central region, with a bigger size and chance of nodal involvement and metastasis compared to FBCs. They are mostly infiltrating ductal type and hormone receptor positive, with worse histological grade. Treatment usually follows the same principles as FBCs (systemic therapy, surgical excision, and radiotherapy), with poorer prognosis to same treatment approach, possibly owing to its advanced stage at presentation. This is a rare entity which requires further research to ascertain need for different management approach than FBCs.

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“…A few studies addressed the role of low-penetrance variants in MBC susceptibility through GWAS or a candidate SNP genotyping approach [41,42,44,[156][157][158][159][160][161]. Overall, five loci were associated with increased MBC risk.…”

Section: Common Low-penetrance Risk Variantsmentioning

confidence: 99%

Gender-Specific Genetic Predisposition to Breast Cancer: BRCA Genes and Beyond

Valentini,

Bucalo,

Conti

et al. 2024

Cancers

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Among neoplastic diseases, breast cancer (BC) is one of the most influenced by gender. Despite common misconceptions associating BC as a women-only disease, BC can also occur in men. Additionally, transgender individuals may also experience BC. Genetic risk factors play a relevant role in BC predisposition, with important implications in precision prevention and treatment. The genetic architecture of BC susceptibility is similar in women and men, with high-, moderate-, and low-penetrance risk variants; however, some sex-specific features have emerged. Inherited high-penetrance pathogenic variants (PVs) in BRCA1 and BRCA2 genes are the strongest BC genetic risk factor. BRCA1 and BRCA2 PVs are more commonly associated with increased risk of female and male BC, respectively. Notably, BRCA-associated BCs are characterized by sex-specific pathologic features. Recently, next-generation sequencing technologies have helped to provide more insights on the role of moderate-penetrance BC risk variants, particularly in PALB2, CHEK2, and ATM genes, while international collaborative genome-wide association studies have contributed evidence on common low-penetrance BC risk variants, on their combined effect in polygenic models, and on their role as risk modulators in BRCA1/2 PV carriers. Overall, all these studies suggested that the genetic basis of male BC, although similar, may differ from female BC. Evaluating the genetic component of male BC as a distinct entity from female BC is the first step to improve both personalized risk assessment and therapeutic choices of patients of both sexes in order to reach gender equality in BC care. In this review, we summarize the latest research in the field of BC genetic predisposition with a particular focus on similarities and differences in male and female BC, and we also discuss the implications, challenges, and open issues that surround the establishment of a gender-oriented clinical management for BC.

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Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

Cited by 7 publications

References 32 publications

Genetic Landscape of Male Breast Cancer

Genetic Landscape of Male Breast Cancer

Male Breast Cancer: An Updated Review of Patient Characteristics, Genetics, and Outcome

Gender-Specific Genetic Predisposition to Breast Cancer: BRCA Genes and Beyond

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