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Science
10 February 2025

Mitochondrial DNA Links Explored For Breast Cancer Risk

New study investigates mtDNA haplogroups among Pakistani women and their potential role in breast cancer susceptibility.

The investigation of mitochondrial DNA haplogroups and their association with breast cancer susceptibility highlights previously unexplored genetic factors contributing to this prevalent disease, particularly within the Pakistani population.

The study investigates the association between mitochondrial DNA (mtDNA) haplogroups and breast cancer susceptibility, particularly identifying haplogroup M as significantly linked to breast cancer and triple-negative breast cancer (TNBC) among patients in Pakistan.

The research involves authors from various institutions including The University of Lahore, with ethical approval from the university’s ethical committee.

The study is based on the prevalence data of breast cancer from the year 2020, published in 2025.

The research was conducted within Pakistan, particularly focusing on breast cancer patients and healthy controls from the Pakistani population.

The study addresses the substantial breast cancer burden and seeks to explore genetic factors, such as mitochondrial haplogroups, which may contribute to disease susceptibility.

Researchers utilized mitochondrial control region genome sequencing and comparative analysis between breast cancer patients and healthy controls to identify haplogroup associations, employing various statistical methods to analyze the data.

The study found haplogroup M significantly more prevalent among breast cancer patients than healthy controls, emphasizing the genetic links to breast cancer susceptibility.

"These findings highlight the importance of mitochondrial genetics in breast cancer risk among the Pakistani population, offering insights for biomarker discovery and targeted interventions."

"Recognizing mitochondrial genetics in breast cancer risk assessment holds promise for personalized medicine strategies and may impact global breast cancer research and prevention efforts."

"A significant correlation was observed with haplogroup M and triple-negative breast cancer, indicating the relevance of mitochondrial genetic variations."

The article will open with the alarming rise of breast cancer rates globally and the underexplored link between mitochondrial DNA and cancer susceptibility, referencing recent findings about haplogroup M.

This section will discuss breast cancer as a major health issue, outlining known risk factors and previous research on the role of genetic variations, including mtDNA, in cancer susceptibility.

The article will detail the methods used for sample collection and analysis of mtDNA, explaining techniques like genome sequencing and statistical evaluation to establish haplogroup associations.

The core results will be presented, highlighting the significant link between haplogroup M and breast cancer, especially TNBC, explaining how these findings may influence future screening and prevention strategies.

The article will conclude by summarizing the key insights and emphasizing the need for continued research on mitochondrial genetics to advance breast cancer risk assessment and treatment options, encouraging personalized approaches for patients.