{"id":164895,"date":"2024-09-06T13:23:02","date_gmt":"2024-09-06T19:23:02","guid":{"rendered":"https:\/\/tecscience.tec.mx\/en\/?post_type=sciencecommunication&p=164895"},"modified":"2024-10-17T10:38:49","modified_gmt":"2024-10-17T16:38:49","slug":"genetic-counseling-for-breast-cancer","status":"publish","type":"sciencecommunication","link":"https:\/\/tecscience.tec.mx\/en\/science-communication\/genetic-counseling-for-breast-cancer\/","title":{"rendered":"Genetic Counseling: A Tool for Early Detection of Breast Cancer"},"content":{"rendered":"\n

About one in 10 breast cancer cases are linked to inherited genetic mutations. As a result, international clinical guidelines recommend risk assessments<\/strong> for individuals with a family history of breast, ovarian, or gastrointestinal cancers.<\/p>\n\n\n\n

Genetic counseling plays a key role in the prevention and management of hereditary breast cancer. After undergoing genetic testing, individuals at risk can be identified<\/strong>, informed<\/strong>, and provided with recommendations for monitoring studies<\/strong>, preventive surgeries<\/strong>, or specific medications to reduce their risk<\/strong>.<\/p>\n\n\n\n

However, access to these programs is limited in countries like Mexico. TecSalud Breast Cancer Center<\/a><\/strong> <\/a>and the National Institute of Clinical Sciences and<\/strong> Nutrition Salvador Zubir\u00e1n have implemented genetic risk assessment services<\/strong>, providing care to patients referred from other centers. <\/p>\n\n\n\n

Researchers from both institutions later evaluated the impact of genetic counseling and the barriers that hinder patients from adopting recommended preventive measures. The study was published in JCO Global Oncology<\/em>.<\/p>\n\n\n\n

Study on the Impact of Genetic Counseling<\/strong><\/h2>\n\n\n\n

The study involved women and men with mutations associated with an increased risk of breast cancer (including BRCA1, BRCA2, CHEK2, PALB2, ATM, NF1, RAD51C, PTEN, and TP53 genes), who had received a medical explanation of their genetic test results at least six months prior.<\/p>\n\n\n\n

Participants were invited to respond to a survey exploring whether they had undergone monitoring studies or preventive surgeries, as well as the challenges they faced. The study also analyzed whether genetic testing had been conducted on relatives at risk of having a mutation.<\/p>\n\n\n\n

Most participants were women (88%), had public health coverage (53%), and were diagnosed with breast or ovarian cancer (61%). Overall, 87% were aware that they had a genetic mutation, and 80% knew that this mutation increased their risk of developing new cancers.<\/p>\n\n\n\n

Adoption of Preventive Measures<\/strong><\/h2>\n\n\n\n

Depending on the type of mutation, 37% of candidates underwent preventive bilateral mastectomy, and 48% had preventive surgery on their fallopian tubes and ovaries.<\/p>\n\n\n\n

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Regarding monitoring studies, 70% of participants had an annual mammogram in the past year, and 20% had a breast MRI in the previous year\u2014additionally, 50% of those who were recommended to have a colonoscopy followed through with the procedure.<\/p>\n\n\n\n

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The main barriers that hindered participants from taking measures to reduce their cancer risk were financial limitations (67%), the perception that their doctor had not recommended the studies or surgeries (35%), and fear (24%).<\/p>\n\n\n\n

On the other hand, attending follow-up oncology consultations was associated with a higher likelihood of undergoing monitoring studies and preventive surgeries.<\/p>\n\n\n\n

In total, 87% of individuals with a genetic mutation also encouraged their relatives to undergo genetic risk assessment.<\/p>\n\n\n\n

Sixty-three percent of families underwent genetic testing. Having a close relative recently diagnosed with cancer and considering the genetic evaluation program useful increased the likelihood of initiating testing within families with a mutation.<\/p>\n\n\n\n

Implications of Genetic Counseling<\/strong><\/h2>\n\n\n\n

Despite the barriers patients face, this study observed considerable adoption rates of cancer risk reduction measures and genetic testing in families.<\/p>\n\n\n\n

Therefore, it is crucial to implement targeted strategies to reduce out-of-pocket expenses for patients, improve communication between patients and doctors, encourage attendance at follow-up consultations, and promote a clear understanding of what it means to have a mutation. <\/p>\n\n\n\n

These steps will increase the benefits of genetic counseling, allowing individuals with mutations and their families to take proactive measures to safeguard their health.<\/p>\n\n\n\n

Hereditary Breast Cancer Risk Criteria<\/strong><\/h2>\n\n\n\n