Meynard Guillaume, Mansi Laura, Lebahar Pierre, Villanueva Cristian, Klajer Elodie, Calcagno Fabien, Vivalta Adrian, Chaix Marie, Collonge-Rame Marie-Agnès, Populaire Céline, Algros Marie-Paule, Colpart Prudence, Neidich Julie, Pivot Xavier, Curtit Elsa
Department of Medical Oncology, University Hospital, 25000 Besançon, France.
Pathway Genomics Corporation, San Diego, CA 92121, USA.
Oncol Rep. 2017 Mar;37(3):1573-1578. doi: 10.3892/or.2017.5422. Epub 2017 Feb 3.
Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene. There is no known Ashkenazi Jewish ancestry. We report the first description of a never described double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient, with two distinct histology, and two distinct mutations.
遗传性乳腺癌和卵巢癌综合征是一种常染色体显性疾病，主要由BRCA1或BRCA2基因的种系突变引起。在非阿什肯纳兹人群中，BRCA1和BRCA2突变的双杂合性罕见病例仅有非常个别的报道。我们描述了一名46岁女性的病例，她同时被发现患有双侧乳腺癌。活检证实存在两种组织学特征不同的乳腺癌。由于有乳腺癌的阳性家族史，对其进行了BRCA分析，检测到两个致病性单等位基因突变，一个在BRCA1基因，另一个在BRCA2基因。该患者没有已知的阿什肯纳兹犹太血统。我们首次报道了一位法国转移性乳腺癌患者中BRCA1和BRCA2致病性变异的双杂合性，该患者有两种不同的组织学特征和两个不同的突变。
