扩展E318K (c.952G > A) MITF种系突变携带者的表型:病例系列和文献综述

IF 2 4区医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2021-07-21 DOI:10.1186/s13053-021-00189-8

Leandro Jonata Carvalho Oliveira, Aline Bobato Lara Gongora, Fabiola Ambrosio Silveira Lima, Felipe Sales Nogueira Amorim Canedo, Carla Vanessa Quirino, Janina Pontes Pisani, Maria Isabel Achatz, Benedito Mauro Rossi

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引用次数: 2

摘要

背景:小眼相关转录因子基因(MITF)属于MYC超基因家族，在黑素细胞的稳态中起重要作用。携带MITF种系致病变异的个体患癌症的风险增加，最明显的是黑色素瘤和肾细胞癌。病例介绍:我们描述了一个10人的队列，他们携带相同的MITF c.952G > a (p.Glu 318Lys)，或p.E318K，种系致病变异。6名携带者发生了至少一种恶性肿瘤(4例乳腺癌;1子宫颈癌;1结肠癌;1黑素瘤;1卵巢/输卵管癌)。这些个体及其亲属之间存在显著的表型异质性。总体而言，乳腺癌是该病例系列中最常见的恶性肿瘤，在先证者及其亲属中有60例(21.67%)癌症病例中有13例。结论:我们的回顾性分析数据提出了MITF p.E318K致病变异与乳腺癌风险增加可能相关的假设。

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Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.

Background: The microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role in melanocytes' homeostasis. Individuals harboring MITF germline pathogenic variants are at increased risk of developing cancer, most notably melanoma and renal cell carcinoma.

Case presentation: We describe a cohort of ten individuals who harbor the same MITF c.952G > A (p.Glu 318Lys), or p.E318K, germline pathogenic variant. Six carriers developed at least one malignancy (4 cases of breast cancer; 1 cervical cancer; 1 colon cancer; 1 melanoma; 1 ovarian/fallopian tube cancer). A significant phenotypic heterogeneity was found among these individuals and their relatives. Breast cancer was, overall, the most frequent malignancy observed in this case series, with 13 occurrences of 60 (21.67 %) total cancer cases described among the probands and their relatives.

Conclusions: Our retrospective analysis data raise the hypothesis of a possible association of the MITF p.E318K pathogenic variant with an increased risk of breast cancer.

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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

>12 weeks

期刊介绍： Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.