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BRCA1 and BRCA2 sequence variants in Chinese breast cancer families
Author(s) -
Zhi Xiangcheng,
Szabo Csilla,
Chopin Sandrine,
Suter Nicola,
Wang QingSheng,
Ostrander Elaine A.,
Sinilnikova Olga M.,
Lenoir Gilbert M.,
Goldgar David,
Shi YuRong
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9083
Subject(s) - biology , breast cancer , penetrance , genetics , family history , germline mutation , cancer , mutation , allele , gene , oncology , medicine , phenotype
Abstract A series of 45 high‐risk breast cancer patients, consisting of 25 affected individuals from 16 families in China with at least two cases of breast cancer and 20 cases of breast cancer diagnosed under age 35 without reported family history, were studied for germline mutations of the BRCA1 and BRCA2 genes. Thirteen of the 16 families contained at least one case diagnosed under age 50. Three distinct protein truncating sequence variants, likely to be disease–associated, were identified: two novel mutations in BRCA1 (1584G>T and 5028delC), and a previously reported mutation in BRCA2 (7883delTTAA). Additional sequence variants identified included common polymorphisms, and several variants of unknown clinical significance, including a novel BRCA1 alteration. Based on models for predictive testing using allele frequencies and risks estimated in Western populations, our results suggest that BRCA1/2 mutations account for a somewhat smaller fraction of breast cancer cases in Tianjin than in the Caucasian populations studied. This difference could be the result of a lower penetrance of BRCA1/2 mutations due to the surrounding environmental and hormonal milieu, or a lower frequency of mutations in this population. Larger, more detailed, studies will be necessary to determine which factors underlie this difference. © 2002 Wiley‐Liss, Inc.