Laboratorio de Genética de Enfermedades Metabólicas, Universidad Nacional Mayor de San Marcos.
Clínica Ziegler.
Rev Fac Cien Med Univ Nac Cordoba. 2022 Mar 7;79(1):53-56. doi: 10.31053/1853.0605.v79.n1.32795.
Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.
We used a multi-gene panel testing to identify germline variants in a unique case of a breast cancer patient with a family history of five different neoplasm types. The patient, at the age of 50 years, was diagnosed with a high-grade cribriform ductal carcinoma in situ in her left breast.
We identified two heterozygous mutations, one classified as pathogenic/likely pathogenic in RAD50 and the other classified as a variant of uncertain significance (VUS) in ATM.
In conclusion, the use of the multi-gene panel leads to the identification of a double heterozygous mutation in RAD50 and ATM in a breast cancer patient from a Peruvian family with several cancer types. This data helps our physician team and the patient to choose a treatment following the post-test genetic counseling.
癌症是全球第二大致死原因，70%的癌症死亡发生在中低收入国家。为了降低这种疾病的死亡率，建议评估多个高外显率基因。
我们使用多基因panel 测试来鉴定一位具有五种不同肿瘤类型家族史的乳腺癌患者的种系变异。该患者 50 岁时，被诊断为左乳高级筛状导管原位癌。
我们发现了两个杂合突变，一个 RAD50 突变被归类为致病性/可能致病性，另一个 ATM 突变被归类为意义不明的变异（VUS）。
总之，在秘鲁一个有多种癌症的家庭中，多基因 panel 鉴定出了乳腺癌患者 RAD50 和 ATM 的双杂合突变。该数据有助于我们的医生团队和患者在进行遗传咨询后选择治疗方案。
