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| COMMON ORIGINS OF BRCA1 MUTATIONS IN CANADIAN BREAST AND OVARIAN-CANCER FAMILIES |
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| Author(s): SIMARD J, TONIN P, DUROCHER F, MORGAN K, ROMMENS J, GINGRAS S, SAMSON C, LEBLANC JF, BELANGER C, DION F, LIU Q, SKOLNICK M, GOLDGAR D, SHATTUCKEIDENS D, LABRIE F, NAROD SA |
| Source: NATURE GENETICS Volume: 8 Issue: 4 Pages: 392-398 Published: DEC 1994 |
| Times Cited: 260 References: 14 |
| Abstract: Women who carry mutations in the BRCA1 gene on chromosome 17q have an 85% lifetime risk of breast cancer, and a 60% risk of ovarian cancer, We have identified BRCA1 mutations in 12 of 30 (40%) Canadian families with breast and/or ovarian cancer, including six of the eight families (75%) that contained two cases of early-onset breast cancer and two cases of ovarian cancer, Six frameshift mutations account for all 12 mutant alleles, including nucleotide insertions (two mutations) and deletions (four mutations), Four independent families carried the same 1 basepair (bp) insertion mutation in codon 1755 and four other families shared a 2 bp deletion mutation in codons 22-23. These families were not known to be related, but haplotype analysis suggests that the carriers of each of these mutations have common ancestors. |
| Document Type: Article |
| Language: English |
Addresses:
1. MCGILL UNIV, DEPT MED, DIV MED GENET, MONTREAL H3G 1A4, PQ CANADA
2. MCGILL UNIV, DEPT HUMAN GENET, MONTREAL H3G 1A4, PQ CANADA
3. MCGILL UNIV, DEPT BIOSTAT & EPIDEMIOL, MONTREAL H3G 1A4, PQ CANADA
4. CHU LAVAL, RES CTR, MOLEC ENDOCRINOL LAB, QUEBEC CITY G1V 4G2, PQ CANADA
5. UNIV LAVAL, QUEBEC CITY G1V 4G2, PQ CANADA
6. HOSP SICK CHILDREN, DEPT GENET, TORONTO M5G 1X8, ON CANADA
7. UNIV TORONTO, DEPT MOLEC & MED GENET, TORONTO, ON CANADA
8. MYRIAD GENET INC, SALT LAKE CITY, UT USA
9. UNIV UTAH, DEPT MED INFORMAT, SALT LAKE CITY, UT 84112 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PV682 |
| ISSN: 1061-4036 |
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