PDF(Pubmed)
Abstract：
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.
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.
摘要：
癌症是全球第二大死因,70%的癌症死亡发生在低收入或中等收入国家。为了减轻这种疾病的死亡率，建议对多个高外显率基因进行评估。
我们使用多基因组测试来鉴定具有五种不同肿瘤类型家族史的乳腺癌患者的独特病例中的种系变异。病人,在50岁的时候，在她的左乳腺中被诊断出患有高级别筛状导管原位癌。
我们确定了两个杂合突变，一个在RAD50中被分类为致病性/可能致病性，另一个在ATM中被分类为不确定意义的变体（VUS）。
总之,多基因组的使用导致在一名患有多种癌症类型的秘鲁家族乳腺癌患者中鉴定出RAD50和ATM的双杂合突变.这些数据有助于我们的医生团队和患者在测试后遗传咨询后选择治疗方法。
我们使用多基因组测试来鉴定具有五种不同肿瘤类型家族史的乳腺癌患者的独特病例中的种系变异。病人,在50岁的时候，在她的左乳腺中被诊断出患有高级别筛状导管原位癌。
我们确定了两个杂合突变，一个在RAD50中被分类为致病性/可能致病性，另一个在ATM中被分类为不确定意义的变体（VUS）。
总之,多基因组的使用导致在一名患有多种癌症类型的秘鲁家族乳腺癌患者中鉴定出RAD50和ATM的双杂合突变.这些数据有助于我们的医生团队和患者在测试后遗传咨询后选择治疗方法。
