Musani Vesna, Sušac Ilona, Ozretić Petar, Eljuga Domagoj, Levanat Sonja
Rudjer Boskovic Institute Eljuga Polyclinic Department for Oncoplastic and Reconstructive Surgery, University Hospital for Tumors, University Clinical Hospital Centre Sisters of Mercy, Zagreb, Croatia.
Medicine (Baltimore). 2017 Dec;96(48):e8667. doi: 10.1097/MD.0000000000008667.
Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer.
In this report we describe a Croatian patient with no apparent family history of cancer, who developed breast cancer first at 29, and again at 33.
Due to the early development of first breast cancer and triple negative status of the second, the attending physician suspected a hereditary aspect.
Patient was sent to BRCA1 genetic testing. Subsequently, her mother and sister were sent to check for the mutation found in the patient.
BRCA1 exons 4-6 deletion was determined and sequencing confirmed the deletion as NG_005905.2:g.107648_117905del10257. Mother and sister were not affected, but since there were no available family members on the fathers' side, it was not possible to determine if this was a case of de novo mutation. Until now, only in three reports with the similar mutation the exact mutation borders were determined. The mutation in this case was not the same as previously reported and was more than twice in size.
All large deletions should be described at the nucleotide level, so that in cases with missing family data it would be possible to deduce if the mutation is already known. If the mutation is already known, it is probably not a de novo event, since it is unlikely that the breakpoints would be exactly the same more than once.
乳腺癌是女性最常见的癌症之一，也是克罗地亚癌症相关死亡的主要原因。BRCA1和BRCA2基因突变是遗传性乳腺癌最常见的原因。
在本报告中，我们描述了一名没有明显癌症家族史的克罗地亚患者，她在29岁时首次患上乳腺癌，33岁时再次患病。
由于首次乳腺癌发病较早，且第二次乳腺癌为三阴性，主治医生怀疑存在遗传因素。
患者接受了BRCA1基因检测。随后，她的母亲和妹妹也被送去检查是否存在患者身上发现的突变。
确定为BRCA1基因第4至6外显子缺失，测序证实该缺失为NG_005905.2:g.107648_117905del10257。母亲和妹妹未受影响，但由于父亲一方没有在世的家庭成员，无法确定这是否为新发突变病例。到目前为止，只有三篇报告确定了类似突变的确切突变边界。本病例中的突变与先前报道的不同，且大小超过两倍。
所有大的缺失都应在核苷酸水平上进行描述，以便在家族数据缺失的情况下，能够推断该突变是否已知。如果该突变已知，那么它很可能不是新发事件，因为断点不太可能多次完全相同。
