Estimating Risk of Breast Cancer Using Genetic Testing

Rodrigo Arrangoiz MS, MD, FACS, FSSO

👉The average probability of developing breast cancer by age 70 is estimated at 57% to 59% for BRCA1 gene mutation carriers and 49% to 51% for BRCA2 gene mutation carriers.

👉Emphasis is on the word “average” because these estimates are based on data from families with a lot of breast cancer cases as well as families with very few breast cancers.

👉Previous studies that had only included families with many breast cancer cases had concluded that lifetime breast cancer risk was more in the range of 80% to 85%.

👉This illustrates an important point: the risk conferred by a pathologic mutation in any breast cancer predisposition gene will vary widely by family.

👉This is most likely due to gene-gene interactions, which are the modifying effects of small differences (e.g., polymorphisms) in many different genes.

👉Average risk is a good place to start for any pathologic gene mutation.

👉The “All Syndromes Known to Man,” or ASK2ME, Web calculator is a good place to find average risks for the rarer syndromes (http://www.ask2me.org/).

👉This risk should be adjusted up or down based on evaluation of the three-generation cancer family history.

👉Both age at diagnosis and cumulative risk vary by family.

👉Indeed, even for genes such as ATM and CHECK2, which are thought to be low-penetrance genes, breast cancer risk approaches that of BRCA1 and BRCA2 genes in some families.

👉Careful evaluation of the three-generation cancer family history is required for accurate risk estimation.

#Arrangoiz #BreastSurgeon #CancerSurgeon #SurgicalOncologist #Breast Cancer

Unknown's avatar

Published by Rodrigo Arrangoiz MS, MD, FACS, FSSO

My name is Rodrigo Arrangoiz I am a breast surgeon/ thyroid surgeon / parathyroid surgeon / head and neck surgeon / surgical oncologist that works at Center for Advanced Surgical Oncology in Miami, Florida. I was trained as a surgeon at Michigan State University from (2005 to 2010) where I was a chief resident in 2010. My surgical oncology and head and neck training was performed at the Fox Chase Cancer Center in Philadelphia from 2010 to 2012. At the same time I underwent a masters in science (Clinical research for health professionals) at the University of Drexel. Through the International Federation of Head and Neck Societies / Memorial Sloan Kettering Cancer Center I performed a two year head and neck surgery and oncology / endocrine fellowship that ended in 2016. Mi nombre es Rodrigo Arrangoiz, soy cirujano oncólogo / cirujano de tumores de cabeza y cuello / cirujano endocrino que trabaja Center for Advanced Surgical Oncology en Miami, Florida. Fui entrenado como cirujano en Michigan State University (2005 a 2010 ) donde fui jefe de residentes en 2010. Mi formación en oncología quirúrgica y e n tumores de cabeza y cuello se realizó en el Fox Chase Cancer Center en Filadelfia de 2010 a 2012. Al mismo tiempo, me sometí a una maestría en ciencias (investigación clínica para profesionales de la salud) en la Universidad de Drexel. A través de la Federación Internacional de Sociedades de Cabeza y Cuello / Memorial Sloan Kettering Cancer Center realicé una sub especialidad en cirugía de cabeza y cuello / cirugia endocrina de dos años que terminó en 2016.

Leave a comment