Department of Surgery, The University of Hong Kong and University of Hong Kong-Shenzhen Hospital, Hong Kong, China.
Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong, China.
Int J Mol Sci. 2021 Jan 17;22(2):889. doi: 10.3390/ijms22020889.
The germline carrier of the pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.
胚系携带致病性突变已被充分证明会增加乳腺癌和卵巢癌的风险。尽管双等位基因致病性突变极为罕见，但已报道其具有胚胎致死性或导致范可尼贫血（FA）。在此，我们描述了一名 48 岁女性患者，其携带基因的双等位基因致病性突变，无或仅有非常轻微的 FA 特征。她在 43 岁和 44 岁时被诊断出患有卵巢癌和乳腺癌，并有强烈的乳腺癌和妇科癌症家族史。
