A study of mechanistic mapping of novel SNPs to male breast cancer

Kaur, Raman Preet; Kumar, Vicky; Shafi, Gowhar; Vashistha, Rajesh; Kulharia, Mahesh; Munshi, Anjana

doi:10.1007/s12032-019-1290-0

Cited by 7 publications

(7 citation statements)

References 29 publications

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“…Although male breast cancer is very rare compared to women, its incidence has been increasing in recent years. Approximately 2000-2500 new cases are added each year in the United States, while this rate is 1/100000 in India ( 1 , 7–9 , 11 , 20 ). We should therefore pay attention to the clinical, genetic and epidemiological features of male breast cancer.…”

Section: Discussionmentioning

confidence: 99%

“…It was also more commonly observed in the left breast in our series (17/27). Age, race, family history, obesity, genetic factors (especially BRCA2 mutations), gynecomastia, Klinefelter syndrome, Cowden syndrome, liver diseases that cause an estrogen increase, cirrhosis, ionized radiation and prolonged heat exposure (increases prolactin level) due to environmental factors, alcohol, and excess consumption of red meat are mostly accused in the etiology ( 1 , 2 , 7–9 , 12 , 13 , 17 ). In our series, two patients had a history of radiation (due to lung cancer), three patients had gynecomastia, one patient had obesity, three patients had diabetes and CRF (dialysis patient), and four patients had a history of breast carcinoma in their sisters.…”

Section: Discussionmentioning

confidence: 99%

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Male breast cancer: clinicopathological, immunohistochemical and radiological study

Hasbay

Bolat²,

Aytaç³

et al. 2020

TJPATH

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Objective: To evaluate the pathological and radiological features, immunohistochemical profile and treatment methods of primary male breast carcinoma cases diagnosed at our center. Material and Method: The pathology archive between 2006 and 2019 was reviewed and the data of 27 male patients diagnosed as primary breast cancer were retrospectively evaluated. Results: The age of the patients ranged between 40-86 years. The left breast was involved in 17 patients. The mean tumor diameter was 2.35 ± 1.09 cm. Of the 27 cases, 8 were dead and 19 were alive. The mean follow-up duration was 37.45 ± 24.84 months. The mean estimated life expectancy was 65±14.7 months. The most common complaint was a swelling in the breast. The time interval between the onset of complaints and admittance to hospital ranged from three months to two years. The most common histopathological diagnosis was invasive carcinoma-no special type. The most common surgical procedure was mastectomy with lymph node dissection. Nine patients had metastatic lymph nodes. In terms of the hormone profiles, 24 were Estrogen receptor positive, 21 were Progesterone receptor positive and six were Her2/neu positive. Three patients had triple-negative tumors. Conclusion: Male breast carcinoma is a rare disease but its frequency has been increasing recently. As breast cancer is more commonly attributed to women, the diagnosis is usually delayed until later stages in males. Public awareness should therefore be increased and breast cancer should be considered in the differential diagnosis especially in the presence of breast swelling and complaints related to the breast skin so that the appropriate biopsy can be obtained without delay.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Male breast cancer: clinicopathological, immunohistochemical and radiological study

Hasbay

Bolat²,

Aytaç³

et al. 2020

TJPATH

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“…In this context, they found the BARD1 missense Cys639Arg, that was predicted as potentially pathogenic by in silico analysis. Another missense mutation -Lys670Asnwas also reported as novel SNPs connected to male BC (Kaur et al, 2019).…”

Section: Bard1 Mutations In Cancer (And Other Diseases)mentioning

confidence: 97%

The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer

Russi

Fermeglia

Aulić

et al. 2022

Pharmacology & Therapeutics

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“…Multi-gene panels that usually contain known high-risk cancer predisposing genes, such as BRCA1 and BRCA2 , were used to determine the prevalence and spectrum of variants in the genes in defined study groups for comparative purposes. Germline whole gene sequencing panels included 10–219 genes [ 16 , 18 , 19 , 20 , 21 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 ] and whole exome sequencing strategies analyzed 10–832 genes [ 63 , 64 , 65 , 66 , 67 ]. These sequencing strategies were used in studies on BC and/or OC and male BC, the first being published in 2011 [ 61 ] ( Figure 1 ).…”

Section: Potentially Pathogenic Germline Bard1 mentioning

confidence: 99%

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers

Alenezi

Fierheller

Recio

et al. 2020

Genes

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Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that not all hereditary breast and/or ovarian cancer syndrome families were explained by germline variants in these cancer predisposing genes, suggesting that other such genes have yet to be discovered. BRCA1-associated ring domain (BARD1), a direct interacting partner of BRCA1, was one of the earliest candidates investigated. Sequencing analyses revealed that potentially pathogenic BARD1 variants likely conferred a low–moderate risk to hereditary breast cancer, but this association is inconsistent. Here, we review studies of BARD1 as a cancer predisposing gene and illustrate the challenge of discovering additional cancer risk genes for hereditary breast and/or ovarian cancer. We selected peer reviewed research articles that focused on three themes: (i) sequence analyses of BARD1 to identify potentially pathogenic germline variants in adult hereditary cancer syndromes; (ii) biological assays of BARD1 variants to assess their effect on protein function; and (iii) association studies of BARD1 variants in family-based and case-control study groups to assess cancer risk. In conclusion, BARD1 is likely to be a low–moderate penetrance breast cancer risk gene.

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A study of mechanistic mapping of novel SNPs to male breast cancer

Cited by 7 publications

References 29 publications

Male breast cancer: clinicopathological, immunohistochemical and radiological study

Male breast cancer: clinicopathological, immunohistochemical and radiological study

The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers

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