They identify genetic mutations that increase the risk of cancer in both breasts

A new discovery around a genetic mutation which can greatly increase the chances of developing contralateral breast cancer paves the way will pave the way for the personalization of breast cancer screening methods and risk factors. The research was carried out by specialists from the prestigious Mayo Clinic in the United States, which used data from more than 15,000 women with the disease.

According to this work, women with cancer in one breast may have an increased risk of developing cancer in the other breast if they carry specific genetic changes that predispose them to developing this disease. The study was conducted by the Mayo Clinic Comprehensive Cancer Center and published in the Journal of Clinical Oncology.

The study used data from 15,104 women with prospective follow-up in consortium CARRIERS (Cancer risk estimates related to susceptibility, or cancer risk estimates related to propensity). The CARRIERS consortium is a group of 17 studies large epidemiological studies in the United States of women in the general population who develop breast cancer. The objective is to improve the understanding of the genetic and environmental risk factors for breast cancer thanks to the information obtained from the people who take part in these studies.

Researchers from the Mayo Clinic, a nonprofit organization dedicated to innovation in clinical practice, education and research, have determined that patients who have a inherited mutation in BRCA1, BRCA2, or CHEK2 present a risk at least twice as high develop cancer in both breasts, known as contralateral breast cancer. Instead, patients with inherited mutations in ATM they had no significant increased risk of contralateral breast cancer. Among the carriers of PALB2the risk of contralateral breast cancer was significantly increased only in women with disease without estrogen receptors.

“These are the first population-based numbers for these three genes in addition to BRCA1/2,” said Dr. Fergus sofa, breast cancer researcher at Mayo Clinic Comprehensive Cancer Center, Zbigniew and Anna M. Scheller Professor of Medical Research and principal investigator of the CARRIERS study. “It is also one of the largest studies to provide counts of contralateral breast cancer by age at diagnosis, menopausal status and race/ethnicity of inherited mutation carriers,” he added. .

Most breast cancer patients who have inherited mutations assume they are at high risk of developing cancer in the other breast, Dr. Siddharth Yadav, Study co-author and oncologist at Mayo Clinic Comprehensive Cancer Center. Although this is true for carriers of the BRCA1/2 mutation with breast cancer, the risk of developing contralateral breast cancer in carriers of an inherited ATM, CHEK2, or PALB2 mutation has not yet been determined. established. Even for BRCA1/2 carriers, a comprehensive assessment of contralateral breast cancer risk based on age, estrogen receptor status, menopausal status, and effect of initial breast cancer treatment did not been carried out.

“The results reveal important information that will be useful in a personalized risk assessment contralateral breast cancer in patients with inherited mutations,” said Dr. Yadav. “With this level of detail, patients and their healthcare teams will be able to make decisions about appropriate screening tests and steps to reduce the risk of contralateral breast cancer based on more accurate risk estimates. precise and individualized.

The researchers determined that women premenopause con hereditary mutations are often more at risk of developing contralateral breast cancer than women who are already postmenopausal at the time of breast cancer diagnosis. According to the study, among women who have inherited mutations in breast cancer susceptibility genes, black women and non-Hispanic white-skinned women have a similar high risk of developing contralateral breast cancer. , suggesting that risk management strategies should be similar.

“Many women experience bilateral mastectomy to reduce the risk of a second breast cancer,” Dr. Couch said. “We now have data to work with when making the decision to remove the second breast, continue aggressive surveillance, or take preventative medications.”

The Mayo Clinic said the study was supported by the National Institutes of Health (NIH).

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