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BRCA1 and BRCA2 mutation analysis of early‐onset and familial breast cancer cases in Mexico
Author(s) -
RuizFlores Pablo,
Sinilnikova Olga M.,
Badzioch Michael,
CalderonGarcidueñas A.L.,
Chopin Sandrine,
Fabrice Odefrey,
GonzálezGuerrero J.F.,
Szabo Csilla,
Lenoir Gilbert,
Goldgar David E.,
BarreraSaldaña Hugo A.
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.9084
Subject(s) - biology , breast cancer , brca2 protein , mutation , genetics , mutation testing , cancer , cancer research , oncology , germline mutation , gene , medicine
The entire coding regions of BRCA1 and BRCA2 were screened for mutations by heteroduplex analysis in 51 Mexican breast cancer patients. One BRCA1 and one BRCA2 truncating mutation each was identi‐fied in the group of 32 (6%) early‐onset breast cancer patients (≤35 years). Besides these two likely deleterious mutations, eight rare variants of unknown significance, mostly in the BRCA2 gene, were detected in six of 32 (19%) early‐onset breast cancer cases and in three of 17 (18%) site‐specific breast cancer families, one containing a male breast cancer case. No mutations or rare sequence variants have been identified in two additional families including each an early‐onset breast cancer case and an ovarian cancer patient. The two truncating mutations (BRCA1 3857delT; BRCA2 2663‐2664insA) and six of the rare variants have never been reported before and may be of country‐specific origin. The majority of the alterations appeared to be distinct, with only one of them being observed in more than one family. © 2002 Wiley‐Liss, Inc.