Molecular monitoring by CDKN2A/p16INK4A and RB1 gene methylation in breast cancer

Queiroz, Luiz Fernando de; Silva, Marcelo Soares da Mota e; Rosman, Fernando Colonna; Rosas, Siane Lopes Bittencourt; Souza, Heitor Siffert Pereira de; Carvalho, Maria da Glória da Costa

doi:10.1590/1806-9282.20231358

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Revista da Associação Médica Brasileira

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Original Article • Rev. Assoc. Med. Bras. 70 (4) • 2024 • https://doi.org/10.1590/1806-9282.20231358 copy

Molecular monitoring by CDKN2A/p16^INK4A and RB1 gene methylation in breast cancer

Authorship SCIMAGO INSTITUTIONS RANKINGS

SUMMARY

OBJECTIVE:

This prospective study aimed to provide a comprehensive analysis of the methylation status of two pivotal genes, CDKN2A/p16^INK4A (cyclin-dependent kinase inhibitor 2A) and RB1 (retinoblastoma transcriptional corepressor 1), in breast cancer patients.

METHODS:

Samples were obtained from 15 women diagnosed with breast cancer and who underwent a total mastectomy. DNA was extracted from the tumor, non-tumor tissue, and peripheral blood (circulating cell-free DNA). The methylation pattern of cell-free DNA extracted from blood collected on the day of mastectomy was compared with the methylation pattern of cell-free DNA from blood collected 1 year post-surgery. The methylation analysis was carried out by sodium bisulfite conversion and polymerase chain reaction, followed by electrophoresis.

RESULTS:

Methylation of CDKN2A/p16^INK4A was identified in 13 tumor samples and 12 non-tumor tissue samples. Two patients exhibited CDKN2A/p16^INK4A methylation in the cell-free DNA of the first blood collection, while another showed methylation only in the cell-free DNA of the subsequent blood collection. Regarding RB1, 11 tumors and 8 non-tumor tissue samples presented methylation of the gene.

CONCLUSION:

This study presents a novel approach for monitoring breast cancer patients through the analysis of cell-free DNA methylation. This analysis can detect changes in methylation patterns before any visible sign of cancer appears in breast tissue and could help predict the recurrence of malignant breast tumors.

KEYWORDS:
Retinoblastoma; Breast neoplasms; DNA methylation

Patient number	Tumor	Non-tumor tissue	cfDNA first collection	cfDNA second collection	NC
1	U	M	U	Death	Yes
2	M	M	M	Death	No
3	M	M	M	U	Yes
4	M	M	U	U	Yes
5	M	M	U	U	Yes
6	M	M	U	U	Yes
7	M	M	U	NR	Yes
8	M	U	U	U	Yes
9	M	M	U	NR	No
10	M	M	U	U	No
11	M	U	U	NR	Yes
12	M	M	U	U	Yes
13	U	U	U	U	Yes
14	M	M	U	M	No
15	M	M	U	U	Yes

Patient number	Tumor	Non-tumor tissue	cfDNA first collection	cfDNA second collection	NC
1	M	U	U	Death	Yes
2	M	M	U	Death	No
3	M	U	U	U	Yes
4	M	U	U	U	Yes
5	M	U	U	U	Yes
6	M	M	U	U	Yes
7	M	M	U	NR	Yes
8	M	M	M	M	Yes
9	M	U	U	NR	No
10	U	M	U	U	No
11	M	U	U	NR	Yes
12	M	M	U	U	Yes
13	U	U	U	U	Yes
14	U	M	U	M	No
15	U	M	U	U	Yes

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E-mail: ramb@amb.org.br

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[1] *Corresponding author: marcelosoaresdamota@gmail.com