Premium
Frequency of BRCA1 and BRCA2 mutations in a clinic‐based series of breast and ovarian cancer families
Author(s) -
Vaziri Susan A.J.,
Krumroy Lisa M.,
Rostai Majid,
Casey Graham
Publication year - 2000
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 - 10.1002/1098-1004(2001)17:1<74::aid-humu13>3.0.co;2-i
Subject(s) - proband , family history , ovarian cancer , breast cancer , biology , germline mutation , mutation , genetics , mutation frequency , genetic counseling , brca2 protein , cancer , genetic testing , germline , oncology , medicine , gene
Abstract Mutations in BRCA1 and BRCA2 account for a significant proportion of hereditary breast and ovarian cancer cases. In this study, we sought to determine the frequency of BRCA1‐ and BRCA2 ‐mutation carrier families in a hospital‐based cancer family registry. The frequency of families with germline truncating mutations in BRCA1 and BRCA2 was 17.3% (18/104) and 1.9% (2/104), respectively. Two novel truncating mutations, BRCA1 1848delGA and BRCA2 5694insT, were identified. We also sought to determine the carrier frequency of other affected family members for which the mutation lineage could be established within these families. Not including the probands, 72% (18/25) of the affected family members within the BRCA1 mutation‐associated families were carriers, and all four affected members of the BRCA2 families were carriers. These data imply that risk evaluation based on cancer family history alone may result in inaccurate estimates, and where possible, mutation testing should be considered in other affected family members to verify carrier status. © 2001 Wiley‐Liss, Inc.