Identification of a novel germline BRCA2 variant in a Chinese breast cancer family

Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer‐related deaths in women worldwide. In this study, a large Chinese pedigree with breast cancer including a proband and two female patients was recruited and a familial history of breast cancer was collected by quest...

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Bibliographic Details
Published in:Journal of cellular and molecular medicine 2020-01, Vol.24 (2), p.1676-1683
Main Authors: Cheng, Jingliang, Peng, Jiangzhou, Fu, Jiewen, Khan, Md. Asaduzzaman, Tan, Pingping, Wei, Chunli, Deng, Xiyun, Chen, Hanchun, Fu, Junjiang
Format: Article
Language:English
Subjects:
Adult
Age
Asian People - genetics
Base Sequence
Biomarkers
BRCA1 protein
BRCA2
BRCA2 protein
BRCA2 Protein - chemistry
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms - genetics
Cancer therapies
Carcinoma, Ductal, Breast - genetics
Conserved Sequence
Deoxyribonucleic acid
DNA
Family medical history
Female
Females
Genes
Genes, BRCA2
Genetic counseling
genetic counselling
Genetic screening
Genomes
Germ-Line Mutation - genetics
germline
Health risk assessment
Health risks
Humans
Lymphatic system
Medical diagnosis
Middle Aged
Missense mutation
Mutation
Original
Ovarian cancer
Patients
Pedigree
Proteins
Risk factors
Womens health
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Summary:Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer‐related deaths in women worldwide. In this study, a large Chinese pedigree with breast cancer including a proband and two female patients was recruited and a familial history of breast cancer was collected by questionnaire. Clinicopathological assessments and neoadjuvant therapy‐related information were obtained for the proband. Blood samples were taken, and gDNA was extracted. The BRCA1/2 and PALB2 genes were screened using next‐generation sequencing by a targeted gene panel. We have successfully identified a novel, germline heterozygous, missense mutation of the gene BRCA2: c.7007G>T, p.R2336L, which is likely to be pathogenic in the proband and her elder sister who both had breast cancer. Furthermore, the risk factors for developing breast cancer in this family are discussed. Thus, genetic counselling and long‐term follow‐up should be provided for this family of breast cancer patients as well as carriers carrying a germline variant of BRCA2: c.7007G>T (p.R2336L).
ISSN:1582-1838
1582-4934
1582-4934
DOI:10.1111/jcmm.14861