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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Explainability in Breast Cancer Detection</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Ijaz Ahmad</string-name>
          <email>ijaz.ahmad@unidav.it</email>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Alessia Amelio</string-name>
          <email>alessia.amelio@unich.it</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Daniela Cardone</string-name>
          <email>daniela.cardone@unich.it</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Eliezer Zahid Gill</string-name>
          <email>eliezerzahid.gill@phd.unich.it</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Francesca Scozzari</string-name>
          <email>francesca.scozzari@unich.it</email>
          <xref ref-type="aff" rid="aff2">2</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Department of Engineering and Geology, University of Chieti-Pescara</institution>
          ,
          <addr-line>Pescara</addr-line>
          ,
          <country country="IT">Italy</country>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Department of Human, Legal and Economic Sciences, Leonardo da Vinci University</institution>
          ,
          <addr-line>Chieti</addr-line>
          ,
          <country country="IT">Italy</country>
        </aff>
        <aff id="aff2">
          <label>2</label>
          <institution>Laboratory of Computational Logic and AI, Department of Economic Studies, University of Chieti-Pescara</institution>
          ,
          <addr-line>Pescara</addr-line>
          ,
          <country country="IT">Italy</country>
        </aff>
      </contrib-group>
      <pub-date>
        <year>2025</year>
      </pub-date>
      <abstract>
        <p>Breast cancer is one of the most prevalent and lethal conditions among women across the globe, requiring timely and accurate diagnosis to contribute to better patient outcomes. Recent studies explored the risk factors connected to breast cancer. In premenopausal women and those with BRCA genetic susceptibility, air pollution predisposes to breast cancer because environmental toxins are more capable of inducing harmful results in these vulnerable groups, particularly those residing in densely populated urban areas with elevated pollution concentrations, and in the neighborhood of construction sites. Recent decades have seen deep learning emerging as a general-purpose piece of computer-assisted diagnosis software, enabling classification and segmentation tasks in the domain of medical imaging. These models are particularly efective at detecting weak patterns within imaging data imperceptible to the human eye, drastically enhancing diagnostic eficiency. This article focuses on the task of breast cancer classification using ultrasound images. Our results pinpoint ResNet50 as the best-performing model, which has a remarkable 98.72% accuracy rate. We further interpret the model's outcome using the XAI tool Grad-CAM by examining its capability to provide interpretable explanations. The XAI method provides clinically relevant and interpretable explanations, as supported by analysis using both the original images and their corresponding segmented masks.</p>
      </abstract>
      <kwd-group>
        <kwd>eol&gt;Breast Cancer</kwd>
        <kwd>Air Pollution</kwd>
        <kwd>Ultrasound Images</kwd>
        <kwd>Explainable AI</kwd>
        <kwd>Grad-CAM</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>1. Introduction</title>
      <p>
        Breast cancer is a global health issue that strains healthcare systems, with early diagnosis and treatment
improving outcomes and reducing mortality. Awareness and screening are key to controlling the disease.
Besides genetics, environmental factors like air pollution contribute significantly to breast cancer risk
[
        <xref ref-type="bibr" rid="ref1">1</xref>
        ]. Air pollution disrupts hormones, causes oxidative damage, and alters gene expression, increasing
tumor risk. Several studies [
        <xref ref-type="bibr" rid="ref2 ref3 ref4">2, 3, 4</xref>
        ] link long-term exposure to fine particulate matter (PM2.5, PM10) and
other pollutants to breast cancer, with building demolition particles influencing cancer cell behavior.
      </p>
      <p>
        Artificial Intelligence (AI) is advancing breast cancer diagnostics, particularly through deep learning
models applied to ultrasound images for early detection. More in general, deep learning plays a key role
in medicine by enabling a wide range of applications that support both clinical practice and research. It
is used for segmentation and classification of medical images [
        <xref ref-type="bibr" rid="ref5">5</xref>
        ] and for diagnosis and risk prediction
[
        <xref ref-type="bibr" rid="ref6 ref7">6, 7</xref>
        ]. It also contributed to drug discovery [8, 9, 10], to enhance clinical decision support [11, 12] and
to promote personalized medicine [13, 14].
      </p>
      <p>
        However, ensuring transparency through Explainable AI (XAI) techniques is essential for clinical
adoption [
        <xref ref-type="bibr" rid="ref1">1, 15</xref>
        ], since it improves personalized screening and counseling, especially in high-pollution
areas. In fact, despite its benefits, the "black box" nature of deep learning models still limits clinical
adoption. Transparent AI models build trust and support personalized strategies [16]. Interpretability is
particularly important in breast cancer diagnosis, where understanding tumor characteristics guides
treatment.
      </p>
      <p>This research focuses on classifying breast cancer using ultrasound imaging, which ofers
radiationfree, real-time results, using XAI techniques such as Gradient-weighted Class Activation Mapping
(Grad-CAM) [17] to ensure that deep learning models are accurate and transparent. Part of these results
appeared in [18].</p>
    </sec>
    <sec id="sec-2">
      <title>2. The proposed approach</title>
      <p>This study combines XAI with the deep learning model ResNet50 to detect breast cancer using ultrasound
images. Grad-CAM is used to generate visual explanations by highlighting areas of interest in a way
that aligns with clinical insights to improve the model’s transparency. The research is based on 780
labeled breast ultrasound images from the Breast Ultrasound Images (BUSI) dataset, which are divided
into three categories: benign, malignant, and normal. The model’s performance is evaluated using
accuracy, precision, recall, and F1 score. The explainable visual outputs of the Grad-CAM heatmaps help
clinicians interpret and validate the predictions from the model. The Grad-CAM method was employed
to calculate the gradient of the target class with respect to the activations of the last convolutional layer
for the ResNet50 model. The resulting gradients were averaged globally to calculate the importance
weights for the feature map. The heatmap was created by performing a weighted sum of the feature
maps followed by the application of the ReLU activation. The heatmap is used to identify the most
impactful regions for the model’s decision.</p>
      <sec id="sec-2-1">
        <title>2.1. Dataset and preprocessing details</title>
        <p>In this study, we utilize the BUSI dataset, which contains 780 preprocessed ultrasound images in PNG
format, each image labeled as normal, benign, or malignant, along with corresponding segmentation
masks. The dataset is divided into training (70%, 546), validation (10%, 78), and testing (20%, 156) subsets,
each with a well-balanced class distribution across all partitions; these details are summarized in Table
1. This balanced distribution facilitates strong training as well as reliable testing of deep learning
models for breast cancer detection. Mask overlay enhances visibility and marks afected regions clearly,
increasing the accuracy in diagnostics over color mapping or zooming. Mask usage is essential since
the identification of images without them can decrease accuracy by rendering delicate disease patterns
more challenging to identify. The overlaid masks used in the current research were obtained from
clinically verified segmentation, consistently marking clinically relevant regions.</p>
      </sec>
      <sec id="sec-2-2">
        <title>2.2. Experimental setup and model training</title>
        <p>The experiments were conducted in Python 3.10.13 using a NVIDIA A40 GPU, leveraging Tensor Cores,
and CUDA Cores for accelerated visual computing. The pre-trained model with ImageNet weights
was fine-tuned by removing top fully connected layers, freezing convolutional layers, and adding two
dense layers of 128 units with ReLU activation, followed by a softmax output layer for three-class
classification. Grad-CAM was applied by computing gradients of the predicted class score with respect
to the last convolutional layer activations, averaging these gradients, and generating heatmaps that
highlight image regions most relevant to the model’s predictions. These heatmaps were overlaid on
original images using a color map for visualization.</p>
        <p>In this investigation, two types of experiments were performed: one on the classification using full
ultrasound images without mask overlay and the other with segmentation overlay of the masks onto the
original images. Given the primary focus is interpretability in the model, placing overlay over ultrasound
images ofers a valuable mechanism for cross-validation of afected areas. With this, we can measure
whether the regions of interest (ROIs) of Grad-CAM match the clinician-validated regions, which helps
build trust in the explanations given by the model and allows clinical relevance. Furthermore, we assess
how the addition of segmentation masks afects both interpretability and classification accuracy. With
this methodology, the model decision process is made transparent and clinically relevant.</p>
      </sec>
    </sec>
    <sec id="sec-3">
      <title>3. Results and discussion</title>
      <p>The proposed model with mask overlay achieves a remarkable accuracy of 98.72% and F1 score of
0.99, showcasing its robustness and efectiveness in classifying ultrasound images (see Table 2). These
results emphasize the model’s strong potential for accurate detection and diagnosis. The evaluation
metrics collectively ofer a comprehensive assessment of the model’s predictive abilities, highlighting
the superior performance of the approach. When combined with deep learning, ultrasound emerges
as a cost-efective, eficient, and highly reliable method for breast cancer detection, especially in
patients with dense breast tissue, where mammography tends to be less accurate. It is especially
beneficial for susceptible populations like premenopausal women and those with BRCA germline
susceptibility, who are further afected by environmental toxins and are at increased risk. Routine
ultrasound screenings with the help of deep learning can enhance early detection and treatment in these
individuals. While there are still limitations like ultrasound variability in imagery and aberrant pattern
occurrence hindering conventional DL algorithms, innovations like Denoising Difusion Probabilistic
Models (DDPM) have tremendous potential for detecting such complex patterns, overcoming these
limitations and advancing ultrasound-based diagnostics. Full ultrasound images include background
tissue, noise, and artifacts like shadow and speckles, which can mislead the model and decrease accuracy.
Masked ultrasound images only include essential regions such as tumors or lesions, which help the
model disregard unnecessary artifacts and learn the meaningful aspects more eficiently. Targeted
training typically results in enhanced classification performance.</p>
      <p>For Figures 1a and 1c, we have computed precision, recall and F1 score for each category separately.
The results of Figure 1a are shown in Table 3a. With mask overlay, the model efectively distinguishes
between the classes. It demonstrates perfect recall for benign and normal, perfect precision for malignant
and normal, and near-perfect precision for benign. The high F1 scores across all classes indicate a
strong balance between precision and recall. The model’s performance is particularly robust for the
normal class, with perfect scores in all metrics.</p>
      <p>The results of Figure 1c are shown in Table 3b. Without mask overlay, the model performs worse in
distinguishing between malignant, benign, and normal classes. For malignant cases, it achieves good
precision (0.80) and poor recall (0.69), with a balanced F1 score of 0.74. For benign cases, the model has
a good recall (0.89) and good precision (0.80), resulting in an F1 score of 0.84. For normal cases, it has
good precision (0.82) but lower recall (0.72), yielding an F1 score of 0.77.</p>
      <p>Figures 1b and 1d illustrate the efectiveness of the proposed model through Grad-CAM heatmaps
generated from both masked and original ultrasound images. The visualizations in both figures evidently
Model Name Image Type</p>
      <p>Accuracy (%) Precision</p>
      <p>Recall F1 Score
ResNet50
ResNet50</p>
      <p>Masked Images
Original Images
98.72
80.13
0.99
0.81
0.98
0.77
0.99
0.78
(a) Confusion matrix of ResNet50 masked images
(b) Grad-CAM heatmaps on masked images
(c) Confusion matrix of ResNet50 original images
(d) Grad-CAM heatmaps on original images
identify infected areas, which indicates that the model can localize the relevant regions. Classification
accuracy is relatively lower in the case of original ultrasound images than in the case of masked images.
This is mainly because of ultrasound artifacts like speckle noise, acoustic shadows, and irrelevant
anatomical structures, which can mislead the deep learning model and lower its accuracy. Masked
images can eliminate these artifacts significantly by segmenting lesions and silencing background
noises, thereby allowing the model to learn more discriminative and accurate features. Hence, the use
of preprocessing or advanced segmentation techniques is critical to enhance model accuracy in the
original ultrasound images. Overall, the results clearly demonstrate that deep learning combined with
explainability methods like Grad-CAM provides valuable insights for breast cancer detection of the
infected regions in both figures. However, the accuracy is lower in the case of original images, which
means that original ultrasound images require novel preprocessing techniques to remove the artifact and
related anomalies from ultrasound images. From the results, one thing is very clear: these approaches
have the ability to classify the images correctly and help in breast cancer detection. As future work, we
plan to apply abstract interpretation-based techniques [19, 20, 21] to verify the correctness of the code.</p>
      <p>Class
Benign
Malignant
Normal
0.98
1.00
1.00
1.00
0.95
1.00
0.99
0.98
1.00
(a) Masked images.</p>
      <p>Class
Benign
Malignant
Normal
0.80
0.80
0.82
0.89
0.69
0.72
0.84
0.74
0.77
(b) Original images.</p>
      <p>Precision</p>
      <p>Recall F1 Score</p>
      <p>Precision</p>
      <p>Recall F1 Score</p>
    </sec>
    <sec id="sec-4">
      <title>4. Related works</title>
      <p>
        AI has demonstrated strong performance in breast cancer classification [ 22, 23]. In particular, transfer
learning approaches outperformed traditional methods in image classification [ 24]. In this context,
the link between air pollution and breast cancer risk has gained significant attention, particularly in
urban areas where trafic-related pollutants may elevate the risk [ 25]. In Tehran, pollutants such as
ethylbenzene, xylene, and NO2 were associated with advanced-stage breast cancer, especially in younger
women and those from lower socio-economic backgrounds [26]. A systematic review confirmed a
connection between long-term exposure to pollutants like PM2.5, benzo[a]pyrene, and NO, increasing
breast cancer risk [27]. Similarly, a meta-analysis showed a slight increase in risk with NO2 exposure,
though the evidence remains inconclusive [28]. Many studies have highlighted the importance of XAI
for augmenting trust in AI-based tools [29, 30]. ResNet50, combined with XAI methods like Integrated
Gradient and Occlusion, provided interpretable cancer classifications with a high accuracy [
        <xref ref-type="bibr" rid="ref4">4</xref>
        ]. Other
contributions include ensemble classifiers combining Xception, InceptionV3, and ResNet101, enhanced
by Grad-CAM and attention mechanisms [31] and TransXAI for improving result interpretability [32].
      </p>
    </sec>
    <sec id="sec-5">
      <title>Conflict of interest</title>
    </sec>
    <sec id="sec-6">
      <title>Acknowledgments</title>
      <p>We wish to confirm that there are no known conflicts of interest associated with this publication and
there has been no significant financial support for this work that could have influenced its outcome.
This work was partially supported by the PNRR project FAIR — Future AI Research (PE00000013), Spoke
9 – Green-aware AI, under the NRRP MUR program funded by the NextGenerationEU. This study has
been partially performed in the Laboratory of Computational Logic and AI and in the HPC Laboratory
of the University of Chieti-Pescara, and in the Research Laboratory “Hugo Gernsback" of Unidav.</p>
    </sec>
    <sec id="sec-7">
      <title>Declaration on Generative AI</title>
      <p>The authors have not employed any Generative AI tools.
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  </back>
</article>