The clinical characteristics, family histories, and mutational analysis of the BRCA1 gene in 76 patients with breast cancer diagnosis before age 45 years
Patient . | Age (yrs) . | ER status . | TD status . | Exon/codon . | Nucleotide change . | Family history of . | . | |
---|---|---|---|---|---|---|---|---|
. | . | . | . | . | . | Breast (yr) . | Ovarian . | |
1 | 35 | ER− | TD2 | 11A/464 | 1510del C, ter 474 | None | None | |
2 | 37 | ER− | TD3 | 11A /468 | 1523delG, ter 475 | None | None | |
3 | 34 | ER+ | TD1 | 11B /770 | 2430insC, ter 776 | None | None | |
4 | 39 | ER− | TD3 | 11C/1088 | 3378/81delG, ter 1108 | None | None | |
5 | 39 | ER− | TD3 | 11B/871 | 2732insT, ter 902 | MA (39)a | None | |
6 | 33 | ER− | TD3 | 13/1443 | 4446C →T, ter 1443 | M (60) | None | |
MGM (50) | ||||||||
MA (46) | ||||||||
7 | 39 | ER− | TD3 | 11C/1183 | 3667A →G,LK1183AR | None | None | |
3240T →A,SS1040T | ||||||||
8 | 38 | ER− | TD3 | 9/119 | 690G →A, Va191I | None | None |
Patient . | Age (yrs) . | ER status . | TD status . | Exon/codon . | Nucleotide change . | Family history of . | . | |
---|---|---|---|---|---|---|---|---|
. | . | . | . | . | . | Breast (yr) . | Ovarian . | |
1 | 35 | ER− | TD2 | 11A/464 | 1510del C, ter 474 | None | None | |
2 | 37 | ER− | TD3 | 11A /468 | 1523delG, ter 475 | None | None | |
3 | 34 | ER+ | TD1 | 11B /770 | 2430insC, ter 776 | None | None | |
4 | 39 | ER− | TD3 | 11C/1088 | 3378/81delG, ter 1108 | None | None | |
5 | 39 | ER− | TD3 | 11B/871 | 2732insT, ter 902 | MA (39)a | None | |
6 | 33 | ER− | TD3 | 13/1443 | 4446C →T, ter 1443 | M (60) | None | |
MGM (50) | ||||||||
MA (46) | ||||||||
7 | 39 | ER− | TD3 | 11C/1183 | 3667A →G,LK1183AR | None | None | |
3240T →A,SS1040T | ||||||||
8 | 38 | ER− | TD3 | 9/119 | 690G →A, Va191I | None | None |
MA, maternal aunt; M, mother; MGM, maternal grandmother.