Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective.
Concurrence of breast cancer or thymoma with other malignancies in individual families is often observed, but the familial concurrence of breast cancer and thymoma has not yet been reported. Herein we reported a family encompassing five breast/ovarian cancer patients and two thymoma patients. Whole genome linkage analysis detected no haplotype co-segregating with both types of the tumors. In all patients with breast/ovarian cancer, genetic analysis revealed a clinically untested variant c.5141T>G in exon 18 of the BRCA1 gene, which could be a cancer-causing variant based on the functional study of Lee et al. (2010) and our current pedigree analysis. In the two thymoma patients in our family, targeted sequencing of RAD51L1 and BMP2 genes in and near the translocation site of chromosome 14 and 20 previously reported in two thymoma families, did not find any pathogenic mutation. In the present study, we identified a clinically unconfirmed BRCA1 variant segregating with breast/ovarian cancer patients in an individual family, suggesting it to be clinically functional. Our evidence, however, did not support the notion that the concurrent appearance of breast cancer and thymoma in our family represents a familial cancer syndrome caused by the same genetic disorder.
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Xinxin
X
Zhang
Department of Cardiothoracic Surgery, The Chest Department, Affiliated Drum Tower Hospital Medical School of Nanjing University, Nanjing, PR China.
Tao
T
Wang
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Wei
W
Wang
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Yibing
Y
Ding
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Lixing
L
Zhou
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Qiuyan
Q
Chen
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Xiang
X
Gao
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Yongzheng
Y
Wu
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China.
Yuna
Y
Mei
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Nanjing Children's Hospital, Nanjing, PR China.
Yu
Y
Jin
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China. Electronic address: qian_gao@nju.edu.cn.
Qian
Q
Gao
Center for Translational Medicine, Nanjing University Medical School, Nanjing, PR China; Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China. Electronic address: yilong@nju.edu.cn.
Long
L
Yi
D000328:Adult; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013577:Syndrome; D013945:Thymoma / Q000235:genetics*
D019313:BRCA1 Protein; C492913:BRCA1 protein, human
BRCA1 gene; Breast/ovarian cancer; Hereditary cancer syndrome; Mutation; Thymoma