DocWire News Editors

DocwireNews

A group of researchers has recently identified several genetic mutations associated with severe <a href="https://proddocwire.wpengine.com/hematology-oncology/study-finds-higher-bmi-associated-with-reduced-breast-cancer-risk/">breast cancer</a>. This triple-negative breast cancer usually requires heavy chemotherapy and has a low five-year survival rate; however, this new genetic discovery may protect those at risk from having recurrent cancer.Analyzing genetic data from 10,901 patients who were diagnosed with triple-negative breast cancer, the team found that genetic variants in BARD1, BRCA1, BRCA2, PALB2 and RAD51D were associated with a high risk of triple-negative breast cancer. In addition, they found that these variants were also correlated to a 20% increased risk of any type of breast cancer. Variants in the genes BRIP1, RAD51C, and TP53 were associated with a more moderate risk of triple-negative breast cancer. The full study can be found here in the <a href="https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djy106/5062996">Journal of the National Cancer Institute</a>. This aggressive and rare form of breast cancer was given its name due to its lack of estrogen, progesterone, and HER2 receptors. Roughly 80% of all breast cancers are estrogen receptor-positive and 65% of these cancers are also progesterone receptor-positive. HER2-positive breast cancer is also a common form of breast cancer, presenting HER2 receptors on cell surfaces. Unlike these three main types of breast cancer, triple-negative has no targeted therapies. It accounts for 15-20% of all breast cancer cases, with black women being more than twice as likely than white women to develop the disease. Triple-negative is also more likely to recur and spread as well, making it a particularly challenging breast cancer to manage.<iframe loading="lazy" src="https://www.youtube.com/embed/5ULywn_l2cM" width="853" height="480" frameborder="0" allowfullscreen="allowfullscreen"></iframe>Though previous studies have linked some of these variants to triple-negative breast cancer, this research offers much greater detail in analyzing this connection. These findings are also the first to link RAD51D and BARD1 to breast cancer, being that they had previously only been associated <a href="https://proddocwire.wpengine.com/docwire-pick/nsaid-improves-ovarian-cancer/">with ovarian cancer</a>. With these findings, patients who are diagnosed with triple-negative <a href="https://proddocwire.wpengine.com/hematology-oncology/study-finds-higher-bmi-associated-with-reduced-breast-cancer-risk/">breast cancer can be screened</a> for these variants to determine their potential risk for recurrent cancer. Patients who test positive for these associated variants would be candidates for further monitoring via MRI and mammography, according to lead author Dr. Fergus Couch, Mayo Clinic geneticist.A genomic oncology specialist not involved in the study, Dr. Sandra Swain, claims that though these findings are significant, it is important to determine who should undergo genetic <a href="https://proddocwire.wpengine.com/docwire-pick/cancer-screening-rates-improving/">screening</a> other than those who have already been diagnosed with triple-negative. She states that, &ldquo;Unless we start testing everyone for these genes, it&rsquo;s unclear how we can effectively screen for first-time cases.&rdquo;<blockquote class="twitter-tweet" data-lang="en">
Researchers discover gene mutations linked with aggressive <a href="https://twitter.com/hashtag/breastcancer?src=hash&amp;ref_src=twsrc%5Etfw">#breastcancer</a> &mdash; study is the first to identify genes associated with high risk of triple-negative breast cancer <a href="https://twitter.com/hashtag/TNBC?src=hash&amp;ref_src=twsrc%5Etfw">#TNBC</a> <a href="https://twitter.com/hashtag/bcsm?src=hash&amp;ref_src=twsrc%5Etfw">#bcsm</a> <a href="https://twitter.com/MayoClinic?ref_src=twsrc%5Etfw">@MayoClinic</a> <a href="https://t.co/aJjCcZyRfU">https://t.co/aJjCcZyRfU</a>
&mdash; Mayo Clinic Cancer Center (@MayoCancerCare) <a href="https://twitter.com/MayoCancerCare/status/1026836741066563584?ref_src=twsrc%5Etfw">August 7, 2018</a>
</blockquote><script async src="https://platform.twitter.com/widgets.js" charset="utf-8"></script>Sources:&nbsp;<a href="https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djy106/5062996">Journal of the National Cancer Institute</a>, <a href="https://www.nbcnews.com/health/health-news/researchers-discover-gene-mutations-linked-aggressive-breast-cancer-n898111">NBC News</a>, <a href="https://www.webmd.com/breast-cancer/guide/breast-cancer-types-er-positive-her2-positive#1">WebMD</a>

Jordana Jampel

Positive Preliminary Results From Phase 1 Trial of Dopaminergic Neuron Graft for Parkinson’s Disease

Dementia

Bradley Warady, MD

Joel M. Topf, MD, FACP

2025 Hume Award Winner Is Dedicated to Children’s Care

NKF Spring Clinical Meetings 2025

Distant Brain Metastases in Cutaneous Melanoma May Be Mitigated With Multiple Pathway Inhibitors

Melanoma

Latest News

Study Finds Mutant Genes Linked to Severe Breast Cancer

Breast Cancer News

A group of researchers has recently identified several genetic mutations associated with severe breast cancer. This triple-negative breast cancer usually requires heavy ...

About Us

Editorial Policy

Advertising

Contact Us

eNewsletters

Contribute

Career Center

MashupMD

Blood Cancers Today

Cancer Nursing Today

GU Oncology Now

Urban Health Today

Bile Duct Cancer

Colorectal Cancer

Gastroesophageal Cancer

Gastric Cancer

GEP-NETs

GIST

Liver Cancer

Pancreatic Cancer

GI Oncology Now

Anemia

Deep Vein Thrombosis

Essential Thrombocythemia

Hemophilia

Immune Thrombocytopenic Purpura

Myelodysplastic Syndromes

Myelofibrosis

Myeloproliferative Neoplasms

Polycythemia Vera

Pulmonary Embolism

Sickle Cell Disease

Thrombocytopenia

Thrombophilia

Thrombosis

Thrombotic Thrombocytopenic Purpura

Venous Thromboembolism

von Willebrand Disease

Heme Today

Acute Kidney Injury

ADPKD

Anemia and Kidney Disease

Chronic Kidney Disease

COVID-19 and Kidney Disease

Diabetes and Hypertension

End-Stage Renal Disease

Gout

Hyperkalemia

IgAN

Kidney Transplantation

Metabolic Acidosis

Nephrology Times

HER2 Breast Cancer

HR Breast Cancer

Triple-Negative Breast Cancer

Genetics & Breast Cancer

Breast Cancers Today

Atherosclerotic Disease

Atrial Fibrillation

Heart Failure

Hypertension

Interventional Cardiology

Lipid Management

Practice Tips With Dr. Lichaa

Preventive Cardiology

Stroke

Cardiology

Breast Cancer

Gynecologic Cancer

Head and Neck Cancer

Skin Cancer

Oncology

Sleep

Urology

Diabetes

Ophthalmology

— Demodex Blepharitis

Neurology

Rheumatology

Gastroenterology

Pulmonology

Infectious Diseases

— HIV

Health and Wellness

Lupus

Future of Medicine

Orthopedics

Pharmacology

Career News

More

Conferences

CardioNerds

The Sleep Source With Dr. Morse

Rheumatology Rounds With Dr. Maheswaranathan

Partners

Expert Interviews

Subscribe