AsymMirai: Interpretable Mammography-based Deep Learning Model for 1–5-year Breast Cancer Risk Prediction.

Donnelly et al. Radiology 310(3):e232780, 2024.

This study discussed the integration of Artificial Intelligence (AI) in health sciences, specifically in predicting breast cancer in advance based on mammograms. AI advancements, including machine learning and pattern recognition, have enhanced mammography’s role in early breast cancer detection. A new AI model, “AsymMirai,” utilizes mammogram data from over 81,000 patients to predict breast cancer risk up to five years in advance while taking advantage of the previously known bilateral asymmetry between the left and right breast.
https://www.instagram.com/p/C_ij5qHOBqQ/

Unsupervised Representation Learning of Chromatin Images Identifies Changes in Cell State and Tissue Organization in DCIS.

Zhang et al. Nature Comm 15, 6112, 2024.

Around 25% of breast cancer cases are Ductal Carcinoma In Situ (DCIS), an early-stage tumor that may develop into invasive ductal carcinoma (IDC). Currently, there’s no reliable way to predict which DCIS tumors will become invasive, often resulting in overtreatment. This study introduced an effective method to predict DCIS progression using chromatin imaging and machine learning. Analyzing 560 tissue samples from 122 patients, they identified eight distinct cell states and noted the spatial arrangement of cells around breast ducts, providing a clearer picture of disease stages. These findings could lead to new predictive diagnostic tools for DCIS.
https://www.instagram.com/p/C-vzj9Dug6J/

A Maternal Brain Hormone that Builds Bone.

Babey et al. Nature 632(8024):357-365, 2024.

Estrogen is crucial for bone health, with lower levels linked to decreased bone density and increased osteoporosis risk in postmenopausal women and breast cancer survivors on estrogen-blocking treatments. During late pregnancy, women experience high estrogen levels that drop significantly during lactation, a period associated with bone calcium loss due to parathyroid hormone-related protein. Despite this, bone mass remains normal, suggesting an alternative pathway. Researchers have discovered a brain-derived hormone, cellular communication network factor 3 (CCN3), which maintains bone health during lactation. This discovery enhances understanding of bone biology and bone diseases.
https://www.instagram.com/p/C-fpzm_ueGM/

Bilateral Mastectomy and Breast Cancer Mortality.

Giannakeas et al. JAMA Oncol. e242212, 2024.

Many women with cancer in one breast choose to undergo surgery to remove either the opposite breast (contralateral mastectomy) or both breasts (bilateral mastectomy) instead of breast conservation therapy to lower the risk of developing new cancer in the unaffected breast and cancer coming back. A recent study found that the risk of contralateral breast cancer was lower in women who had bilateral mastectomies. Still, the rates of dying from breast cancer were similar in the bilateral mastectomy and lumpectomy groups, possibly due to common factors such as the spread of cancer cells and the activation of dormant tumor cells.
https://www.instagram.com/p/C-QIz2eOUVc/

Clinical Outcomes for BRCA Pathogenic Variant Carriers with Breast Cancer Undergoing Breast Conservation.

Wanis et al. JAMA Network Open 7(6):e2418486, 2024.

Most breast cancer cases develop in the absence of a family history (commonly known as spontaneous breast cancer). However, about 8-15% are associated with family history or inherited genetic mutations in cancer-promoting genes and are at high risk for developing breast cancer. When diagnosed, they face difficult decisions regarding treatment options, considering the risk of recurrence, bilateral mastectomy, or breast conservation treatment (BCT). Studies that track patients who chose BCT studies provide insight into the likelihood of cancer recurrence over time, offering more information for healthcare providers and patients as they consider the risks and benefits of different treatment options.
https://www.instagram.com/p/C9WcScaun-H/

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi et al. Cancer Res Commun 4(2):40, 2024.

Recent research on Breast Cancer in Young Women (BCYW) focused on Triple-Negative Breast Cancer (TNBC), a subtype with high relapse and mortality risk. Gardi et al. used next-generation sequencing to study TNBC patients and identified mutation patterns across 1100 genes, some found in circulating tumor DNA (ctDNA), and thus, liquid biopsies could be valuable for disease monitoring. Clonal expansion of cells was found in all cases, regardless of BRCA1 mutation status. This raises questions for future studies on the impact of mutated versus wild-type BCRA1 on TNBC biology in young women and its treatment, compared to older women with TNBC.
https://www.instagram.com/p/C8uc0sSOKF1/

Lifetime Dairy Product Consumption and Breast Cancer Risk: A Prospective Cohort Study by Tumor Subtypes.

Riseberg et al. Am J Cli Nutr 119:302,2024.

The link between milk intake during early life and breast cancer risk in women is debated. Studies show mixed results, with some suggesting milk may protect against breast cancer. Factors such as milk fat content, processing methods, and non-milk factors contribute to inconsistencies. For example, a study of 63,847 women in the Nurses’ Health Study found no link between milk intake & breast cancer risk over a lifetime but noted potential links to certain tumor subtypes. The US guidelines recommend daily low-fat or fat-free milk & dairy intake. It’s crucial to note studying the combined biological activity of milk might yield different results than examining components alone.
https://www.instagram.com/p/C8n0tl8uBCN/

Ultra-sensitive ctDNA Mutation Tracking to Identify Molecular Residual Disease and Predict Relapse in Patients with Early Breast Cancer.

Garcia-Murillas et al, J Clin Oncol 42,2024 (suppl 16; abstr 1010).

Despite major advances in cancer genomics and therapeutics that have reduced mortality and extended survival in breast cancer patients, it remains the most common women’s cancer. Early detection, both at initial diagnosis and during relapse post-treatment, is essential for effective cancer management. Researchers focus on developing liquid biopsy tests for early detection and recurrence monitoring. A recent study demonstrates the potential of using plasma-based genomic tests to predict breast cancer relapse. The test detected specific circulating free DNA long before clinical detection, offering hope for early relapse detection and better disease management.
https://www.instagram.com/p/C746Q8Eufwf/

Menarche and Time to Cycle Regularity Among Individuals Born Between 1950 and 2005 in the US.

Wang et al., JAMA Network Open 7(5):e2412854, 2024.

Internal factors like reproductive hormones and external factors such as lifestyle and environment influence breast cancer in young women (BCYW). The reasons for the rising incidence of BCYW are unclear. Epidemiological studies have connected breast cancer to reproductive risk factors, including shifts in puberty and age at menarche. The “Apple Women’s Health Research App Study” explored trends in menarche and menopause regularity in the US in 71,341 multiethnic females. The study shows a decrease in the average age of early menarche and an increased time in achieving menopause regularity from the age at menarche across all races.
https://www.instagram.com/p/C7sT399up8R/

Risk of First Recurrence after Treatment in a Population‐based Cohort of Young Women with Breast Cancer.

Schaffar et al. Breast Can Res Treat, 206(3):615-623, 2024.

Young women breast cancer survivors face a constant worry about the possibility of the cancer returning or developing a second primary breast cancer. To understand these risks, a recent study analyzed how frequently recurrence and new breast cancers occur in young survivors over time. The study examined the Netherlands Cancer Registry data from 59,610 female BC survivors diagnosed before age 39. The study found that 2,873 had developed a second primary cancer, including 772 who developed a second breast cancer. These findings underline the increased risk of second breast cancer among young female cancer survivors, providing essential insights for enhancing their care and monitoring.
https://www.instagram.com/p/C7PbryFuybD/

Second Primary Breast Cancer in Young Breast Cancer Survivors.

Brantley et al. JAMA Oncol 10(6):718-725, 2024

Over the years, advances have helped lower mortality rates from breast cancer and increased post-treatment survival rates. This suggest that some breast cancer survivors may also experience an increased risk of developing second primary breast cancer (SPBC) compared to those who have never had breast cancer. A recent study analyzed the cumulative risk of developing SPBC over 10 years from the initial breast cancer diagnosis in women <40 who either have or do not have pathogenic BRCA genes. The team noticed that BCYW survivors without a BRCA pathogenic variant had a risk of developing SPBC at 2.2%, while cases with pathogenic variants had a risk of 8.9%.
https://www.instagram.com/p/C619vksuqkZ/

Prenatal Phthalate Exposure and Adverse Birth Outcomes in the USA: A Prospective Analysis of Births and Estimates of Attributable Burden and Costs.

Trasande et al. Lancet Planet Health 8: e74–85, 2024.

Previous studies suggest that exposure to phthalates that exhibit estrogen-like activities could be a risk factor for breast cancer as well as linked to preterm birth. A recent large study has shown that prenatal exposure to phthalates is linked with a decreased gestational age and increased preterm birth. Due to the widespread use of phthalate-containing products, this study may have a broader impact on women’s overall well-being. It may offer interventional strategies for improving the birth outcome.
https://www.instagram.com/p/C3Is25QOmPs/

Poor Outcome in Postpartum Breast Cancer Patients is Associated with Distinct Molecular and Immunologic Features.

Lefrere et al. Clin Cancer Res 29 (18): 3729–3743, 2023.

Breast cancer in young women, associated with pregnancy (Pr-BC) and the postpartum period (PP-BC), even 5 to 10 years after childbirth, often presents a poor prognosis. The featured study examined breast tumor tissues from under-40 women with various diagnosis timings: not having given birth (NP-BC), during pregnancy (Pr-BC), within two years post-pregnancy (PP-BC-DL), and after two years of breastfeeding cessation (PP-BC-PW). Their findings revealed a correlation between increased plasma B cells in tumor and worsened prognosis in PP-BC in post-breastfeeding. The study showed a crucial role of the tumor immune environment in postpartum breast cancer, offering new avenues for intervention in the disease.
https://www.instagram.com/p/C1qi0O5OUGU/

ERα-associated Translocations Underlie Oncogene Amplifications in Breast Cancer.

Lee at al. Nature Vol 618, 1024–1032, 2023.

Breast cancer is strongly linked to the hormonal imbalances that regulate our body processes, with estrogen playing a crucial role in controlling breast development and growth. The initial stages of breast cancer development involve the overactivation of cancer-causing genes, known as oncogenes, through mechanisms such as focal amplification. A recent discovery has highlighted the role of estrogen-initiated signals in focal amplification of oncogenes, and thereby contributing to the transformation of normal breast cells into cancer cells. The diagram simplifies the role and source of estrogen, ER+ tumor progression, estrogen mechanism, and modifiers of imbalances.
https://www.instagram.com/p/C0a3eYROc08/

Evolutionary Histories of Breast Cancer and Related Clones.

Nishimura, T. et al., Nature, Vol 620, 607–614, 2023.

In a ground-breaking study, a recent study examined the genetic history of breast cancer development within both cancerous and non-cancerous breast tissues. Among the observed genetic alterations, the team identified an abnormal chromosome alteration, the del (1;16) – commonly found in the Luminal A subtype of breast cancer. Surprisingly, these cancerous genetic changes were also detected in non-cancerous or normal breast tissues from the period of puberty to adolescence. The study estimated that these genetic changes take about 10.6 years to build in premenopausal women before cancer manifests. The study raises the possibility of predicting Luminal A cancer risk in women with in normal breast tissues.
https://www.instagram.com/p/Czl7ybguoZg/

Reduction of daily-use Parabens and Phthalates Reverses Accumulation of Cancer-associated Phenotypes within Disease-free Breast Tissue of Study Subjects.

Dairkee, SN et al. Chemosphere 322:138014, 2023.

Parabens and phthalates, which are widely used as preservatives and plasticizers in a variety of personal care products (PCP), have been linked with the risk of breast cancer in some cases. The study investigated the impact of substituting everyday PCPs containing parabens or phthalates with those devoid of these substances for 28 days among a cohort of healthy women without breast cancer. The results revealed a significant decrease in the expression of cancer-associated genes, metabolites, and estrogenic biological activities in biofluids. Given the widespread use of PCPs, including by young adults, these results offer promising avenues for new interventional strategies for breast cancer prevention.
https://www.instagram.com/p/C12brgrPkg7/

Combined and Progestagen-only Hormonal Contraceptives and Breast Cancer Risk: A UK Nested Case-control Study and Meta-Analysis.

Fitzpatrick D. et al. PLoS Med 20(3):e1004188, 2023.

One debated core risk factor for breast cancer in young women revolves around birth control pills. Synthetic hormones in these pills can disrupt the balance of female hormones in circulation. Considering the breast’s exposure to hormonal fluctuations due to interconnected hormonal cycles, there remains a potential risk of breast cancer. A recent study suggested that various hormonal contraceptives raised the risk of breast cancer by 20-30% compared to non-users. The study also indicated that women who used oral contraceptives for five years had an additional risk of developing breast cancer over 15 years, ranging from eight (for ages 16-20) to 265 (for ages 35-39) cases per 100,000 women.
https://www.instagram.com/p/C0s87FnOWUY/

Pubertal Exposure to Dietary Advanced Glycation End Products Disrupts Ductal Morphogenesis & Induces Atypical Hyperplasia in the Mammary Gland.

Krisanits et al. Breast Can Res 25(1),118, 2023.

Cancer scientists have long recognized processed foods as a contributing factor to elevated cancer risks, partly due to the levels and nature of advanced glycation end-products (AGEs) . AGEs are compounds formed within our bodies or consumed through processed foods or products cooked at high temperatures. When AGEs accumulate in our body, it leads to cross-talks between epithelium and surrounding stromal cells, which triggers prolonged inflammation and oxidation linked to cancer development. A recent study revealed that mice fed a diet rich in AGEs experienced abnormal growth patterns in mammary glands during puberty and into adulthood, compared to mice fed with low AGEs or regular diets.
https://www.instagram.com/p/Cz4MbPxuE5C/

The Mutational Landscape of the Adult Healthy Parous and Nulliparous Human Breast

Cereser et al. Nature Communications 14, 5136, 2023.

Studies spanning over half a century have consistently shown that the age at which a woman has her first child, and the timing of pregnancy are risk factors for developing breast cancer. Recent research takes these findings further and shows an age-dependent accumulation of somatic mutations in specific cancer-relevant genes in healthy mammary cells. Older first-time mothers may have a greater chance of harmful mutations, about 15 per year, in their breast cells. Pregnancy may induce a rapid expansion of breast cells with specific mutations and could promote breast cancer. In brief, the age of first childbirth and the timing of pregnancies could influence breast cancer risk due to genetic and other factors.
https://pubmed.ncbi.nlm.nih.gov/37673861/

Exome Sequencing Identifies Breast Cancer Susceptibility Genes and Defines the Contribution of Coding Variants to Breast Cancer Risk

Wilcox et al. Nature Genetics 55, 1435-1439, 2023.

Current cancer genetic tests cover only a handful of genes associated with genetic risk, and there is clear room to unearth undiscovered genes. An international collaborative study using data from 26,368 women with breast cancer and 217,673 control group without breast cancer from 8 different countries (i.e., Netherlands, Spain, Germany, France, Malaysia, Singapore, Cyprus, and the United Kingdom) has unveiled an association of breast cancer with genomic alterations in four new genes (MAP3K1, BARD1, LZTR1 and ATR; with prior known association with cancer) and hinted about 90 more such genes. These findings offer the potential of developing additional risk prediction genes for screening and improved clinical management.
https://pubmed.ncbi.nlm.nih.gov/37592023/

Changes in Methylation-based Aging in Women Who Do and Do Not Develop Breast Cancer.

Kresovich et al. Journal of the National Cancer Institute,
https://doi.org/10.1093/jnci/djad117, 2023

A study involving 417 women from the Sister Study cohort analyzed DNA methylation data from paired blood samples collected approximately 7.7 years apart, calculating three epigenetic metrics of biological aging. Half of the women (n=190) were diagnosed and treated for breast cancer between blood draws, while the other half (n=227) remained cancer-free. After accounting for covariates and baseline biological aging metrics, women diagnosed and treated for breast cancer had higher biological aging at the second blood draw than cancer-free women. Case-only analyses revealed that radiation therapy showed strong positive associations with biological aging. In conclusion, breast cancer diagnosis and treatment may be associated with accelerated biological aging.
https://pubmed.ncbi.nlm.nih.gov/37467056/

Molecular Portraits of Cell Cycle Checkpoint Kinases in Cancer Evolution, Progression, and Treatment Responsiveness.

Oropeza et al. Sci Adv. 9(26):eadf2860, 2023.

The study analyzed somatic and germline mutation frequencies in cell cycle checkpoint kinase genes using data from several breast cancer studies, including the Cancer Genome Atlas and the International Cancer Genome Consortium. The authors identified correlative connections between specific gene mutations, breast cancer subtypes, and prognostic patterns. The authors highlighted specific gene mutations linked to the development or progression of ER-positive/HER2-negative breast cancer in pre-and post-menopausal women and treatment-resistant forms of the ER-positive/HER2-positive subtype in younger women. In addition, the authors found specific alterations associated with advanced, treatment-resistant forms of the ER-positive/HER2-positive subtype exclusively in younger women. The study provides new candidate molecules for improving breast cancer subtypes.
https://pubmed.ncbi.nlm.nih.gov/37390209

Impact of Breast Cancer and Germline BRCA Pathogenic Variants on Fertility Preservation in Young Women.

Prokurotaite et al., Life (Basel). 2023;13(4):930. doi: 10.3390/life13040930.

To further clarify the impact of pathogenic BCRA variants on the preservation of fertility in carrier women, the authors evaluated the number of mature oocytes in 85 young women aged with a mean age of 32.2 ± 3.9 years. The authors observed no significant change in the number of collected mature oocytes upon follicular stimulation in the experimental and control groups.
https://pubmed.ncbi.nlm.nih.gov/37109459/

Obesity Promotes Breast Epithelium DNA Damage In Women Carrying A Germline Mutation In BRCA1 Or BRCA2.

Bhardwaj et al., Science Translational Medicine 15(684): Eade1857, 2023

Although obesity and germline BRCA mutations are widely considered risk factors for breast cancer, the molecular relationship between these two risk factors remains unclear. This study demonstrated a positive correlation between body mass index and levels of DNA damage, as well as metabolic pathways in normal breast epithelium in women with mutant BRCA carriers. Interestingly, breast adipose tissues from women with BRCA mutations also exhibited upregulation of estrogen biosynthesis components. These results provide evidence for an aggressive action of these adipose-derived molecules on nearby breast epithelial cells and in turn, breast cancer oncogenesis in breast epithelium with BRCA mutations.
https://pubmed.ncbi.nlm.nih.gov/36812344/

Using Publicly Available Datasets To Identify Population-Based Transcriptomic Landscape Contributing To The Aggressiveness Of Breast Cancer In Young Women

Tabbal et al., Frontiers in Genetics 13:1039037, 2023.

The study explored the genomic basis of invasiveness associated with early onset of breast cancer. Using functional genomic analytical tools and public databases, alterations in gene expression patterns were assessed in various patient populations divided into two age groups: ≤45 and 45–65 years. The authors observed an increased expression of genes involved in pathways that are suggestive of basal The study explored the genomic basis of invasiveness associated with early onset of breast cancer. Using functional genomic analysis tools and public databases, alterations in gene expression patterns were assessed in various patient populations divided into two age groups: ≤45 and 45–65 years. The authors observed an increased expression of genes involved in pathways that are suggestive of basal tumors in young African patients and luminal A in young Asian patients. This study reinforced the notion of the papulation-associated genomic basis of tumor biology and resulting behaviors; however, it remains unclear if this could be translated into therapeutic strategies for BCYW.
https://pubmed.ncbi.nlm.nih.gov/36685821/

Impact Of Anti-HER2 Therapy Alone And With Weekly Paclitaxel On The Ovarian Reserve Of Young Women With HER2-Positive Breast Cancer.

Lambertini, et al., Journal of National Comprehensive Cancer Network 21(1):33- 41.e16, 2023.

The study examined the status of gonad toxicity after using anti-HER2 and taxane agents and assessed the levels of the biomarker anti-müllerian hormone in HER2-positive early-breast-cancer premenopausal women (n = 130). The results indicated a significant decline in the AMH levels during the mense period, leading to surgery. A larger decline in AMH levels was observed after the combined treatment with paclitaxel and anti-HER2 therapy. This study concluded that anti-HER2 therapies alone had limited gonad toxicity, but the addition of paclitaxel resulted in a marked decline in AMH levels with possible negative effects on ovarian function and fertility.
https://pubmed.ncbi.nlm.nih.gov/36634607/

Young Black Women May Be More Likely To Have First Mammogram Cancers: A New Perspective In Breast Cancer Disparities.

Wilkerson et al., Annals of Surgical Oncology, doi: 10.1245/s10434-022-12995-y, 2023.

This study confirmed that Black women were significantly more likely to be diagnosed with first mammogram cancer than White women and those from other racial groups. Factors such as delay in mammographic screening, race, and lack of private insurance were primarily associated with an increased likelihood of cancer detection on the first mammogram. The results suggested that Black women, particularly those with elevated lifetime risk, may benefit from starting mammography at an earlier age.
https://pubmed.ncbi.nlm.nih.gov/36602665/

Survival Benefit Of Chemotherapy According To 21-Gene Recurrence Score In Young Women With Breast Cancer.

Nash et al., Annals of Surgical Oncology, doi: 10.1245/s10434-022-12699-3, 2023

The authors explored the benefit of chemotherapy according to the recurrence score (RS) from Oncotype DX in younger women (aged 40–50 years) diagnosed with HR-positive, HER2-negative patients. Overall, 45.3% of the 15,422 patients receiving chemotherapy were associated with a higher RS; higher-stage, higher-grade tumors, and tumors that were PR-negative. RS was observed to be of prognostic value for overall survival (OS) regardless of the nodal status. The study concluded that the decision to chemotherapy could be especially preference-sensitive in women aged 40–50 years with intermediate RS. , as it may not provide the survival benefit for many women.
https://pubmed.ncbi.nlm.nih.gov/36611067/

Early Breast Cancer In Women Aged 35 Years Or Younger: A Large National Multicenter French Population-Based Case Control-Matched Analysis.

Dufour et al., Breast 68:163-172, 2023.

In support of the notion that early breast cancer is usually associated with a poor outcome, a recent analysis of multicenter French datasets (involving 556 and 5925 patients with breast cancer aged ≤35 and 36–50 years, respectively) confirmed the presence of high-grade, invasive tumors in the younger cohort and provided the associated aggressive treatment regimen.

https://pubmed.ncbi.nlm.nih.gov/36774756/

Application Of Novel Breast Biospecimen Cell Type Adjustment Identifies Shared DNA Methylation Alterations In Breast Tissue And Milk With Breast Cancer Risk Factors.

Muse et al., Cancer Epidemiol Biomarkers & Prevention pii: EPI-22-0405, 2023.

Over the years, alterations in the methylation pattern have evolved as an epigenomic biomarker in predicting early breast transformation. However, very few studies have directly compared the methylation patterns of breast tissues and breast milk. In this context, a recent study on DNA methylation involving 48 specimens of breast milk and 95 specimens of breast tumors suggested the presence of shared hypermethylated CpG loci among breast tissue and breast milk. The study emphasized the value of using breast milk as a noninvasive diagnostic approach.
https://pubmed.ncbi.nlm.nih.gov/36780234/

Genomic Characterization Of Hormone Receptor-Positive Breast Cancer Arising In Very Young Women.

Luen et al., Annals of Oncology,https://doi.org/10.1016/j.annonc.2023.01.009, 2023..

A recent genomic study highlighted the usefulness of genomic subgrouping in developing effective targeted treatment strategies for BCYW. The authors confirmed a high rate of prevalence of mutations in GATA3 (a marker for ductal and lobular and ER+ breast tumors). They provided indications for homologous recombination deficient phenotypes (indicative of defective repair of DNA double-strand breaks in ER-positive/HER2-negative breast tumors in younger women (<40 years, n = 359) compared with older women (≥40 years, n = 917). These molecular variables were further linked with poor overall survival and distant recurrence-free interval
https://pubmed.ncbi.nlm.nih.gov/36709040/

Association Of Body Mass Index With 21-Gene Recurrence Score Among Women With Estrogen Receptor-Positive, ERBB2-Negative Breast Cancer.

Lee at al., JAMA Network Open 5(11):e2243935, 2022.

Although body mass index (BMI) is associated with various clinical disorders, its relationship with genomic alterations in young women with ER-positive and HER2-negative breast cancer remains unclear. In this study, 776 Korean women aged < or >45 years with ER-positive, HER2-negative breast cancer were included. The cases with the known status of the Oncotype Dx 21-gene data and recurrence score were considered, and these endpoints were correlated with the BMI score. The study suggested that a BMI of 25 or higher is associated with a higher Oncotype Dx score in younger patients with ER-positive and HER2-negative breast tumors, implying a recommendation for chemotherapy after breast surgery.
https://pubmed.ncbi.nlm.nih.gov/36441548/

Mammary Collagen Is Under Reproductive Control With Implications For Breast Cancer.

Guo, et al., Matrix Biology 105:104-126, 2022.

High breast density as detected by mammography is a generally accepted risk factor for breast cancer. Fibrillar collagen is one of the key components of breast density. The authors demonstrated that the expression of collagen is regulated in a dynamic manner during pregnancy, lactation, and weaning phase of the mammary glands in a rat model and in human breast tissues. The authors further described a collagen signature involving 48 genes, which is generally noted in postpartum-associated breast cancer, and its association with poor survival of patients with breast cancer including younger women with ER-negative breast tumors.
https://pubmed.ncbi.nlm.nih.gov/34839002/

Somatic And Germline Genomic Alterations In Very Young Women With Breast Cancer.

Waks et al., Clinical Cancer Research 28(11):2339-2348, 2022.

The authors examined the biological basis of poor prognosis of breast cancer in young women compared with older women by studying the genomic differences between breast tumors in young versus older women. Whole-exome sequencing of tumor and germline was performed in 92 patients (52.7% tumors were ER- positive/HER2-negative; 28.0% were HER2-positive, and 16.1% were triple-negative) with a median age of 32.5 years, and the data were compared with TCGA genomic data in older women (≥45 years old, median age 61 years). The study reported a higher prevalence of genomic alterations in GATA3 and ARID1A in young patients, which also carried a pathogenic BRCA germline variant.
https://pubmed.ncbi.nlm.nih.gov/35101884/

Delineation Of Pathogenomic Insights Of Breast Cancer In Young Women.

Paul et al., Cells 11(12):1927, 2022.

Using the publicly available TCGA and Metabric breast cancer datasets, this study reported dysregulation of intrinsic breast cancer subtype-specific genes in breast cancer in younger women aged <40 years, compared with the matched normal or normal breast tissues. The study further correlated the expression patterns with the overall survival (OS) or relapse-free survival (RFS) of patients with breast cancer. Interestingly, several dysregulated genes in BCYW were also detected in the secreted exosomes and body fluids, implying the usefulness of body-fluid-based, noninvasive biomarkers in developing noninvasive strategies for screening a larger segment of the age-appropriate group of younger women.
https://pubmed.ncbi.nlm.nih.gov/35741056/

Germline Genetic Carriers Versus Noncarriers.

Lewinsohn et al., Clinical Breast Cancer S1526-8209(22)00290-7, 2022.

This study reported that among young women with breast cancer, carriers of germline genetic pathogenic variants and non-carriers had similar desires for having biological children and similar concerns about infertility post-treatment. However, carriers were more likely to report concerns about the heritability of cancer risk, and this impacted some carriers’ decisions not to pursue future pregnancies. The study highlighted the importance of counseling regarding strategies to prevent the transmission of cancer risk to offspring.
https://pubmed.ncbi.nlm.nih.gov/36628811/