Konference: 2010 35th Congress ESMO – účast ČR
Kategorie: Zhoubné nádory prsu
Téma: Breast Cancer, Early
Číslo abstraktu: 0242P
Autoři: MUDr. Martina Zimovjanová, Ph.D.; Doc. MUDr. Jan Novotný, Ph.D.; Prof. MUDr. Zdeněk Kleibl, Ph.D.; prof. MUDr. Luboš Petruželka, CSc.; doc. MUDr. Petr Pohlreich, CSc.
The f-up program for individuals carrying mutations in
breast/ovarian cancer predisposing genes has been provided at the
specialized unit of the Dept. of Oncol., General Teaching Hospital,
Prague, in close collaboration with the Dept. of Med. Genetics and
Biochem. and Exp. Oncol. since 1999. The mutation status of the
BRCA1 and BRCA2 genes has been analyzed since its beginning,
testing of other genes involved in hereditary breast cancer (HBC)
development has been introduced later (Table 1).
The median f-up of the whole population is 41 months. During this period, 7 malignancies have been found in BRCA1/2 and CHEK2 healthy mutation carriers. One BC has been detected during the initial visit. Median time to the detection of malignancy was 28 months. One BC has been diagnosed in stage 0, 5 in stage I and 1 in stage IIB. The first abnormal findings were CA 19-9 elevation in 3 patients, breast MRI in 2 patients, mammography in 1 and breast ultrasound in 1 patient. Six of these BC have been detected during regular f-up visits. One BC occurred as an interval carcinoma.
Nine secondary malignancies have been identified among 135 HBC patients carrying mutation in BRCA1/2 gene (6 BC, 1 ovarian carcinoma, 1 pancreatic cancer and 1 lung carcinoma).
23 risk reducing salpingo-oophorectomies and/or hysterectomies have been performed among 90 healthy BRCA1/2 mutation carriers (26%). In the same cohort, prophylactic mastectomy has been carried out in 4 of 90 women (4.5%). The low proportion of prophylactic surgical procedures is caused by low mean and median ages of these women.
The median f-up of the whole population is 41 months. During this period, 7 malignancies have been found in BRCA1/2 and CHEK2 healthy mutation carriers. One BC has been detected during the initial visit. Median time to the detection of malignancy was 28 months. One BC has been diagnosed in stage 0, 5 in stage I and 1 in stage IIB. The first abnormal findings were CA 19-9 elevation in 3 patients, breast MRI in 2 patients, mammography in 1 and breast ultrasound in 1 patient. Six of these BC have been detected during regular f-up visits. One BC occurred as an interval carcinoma.
Nine secondary malignancies have been identified among 135 HBC patients carrying mutation in BRCA1/2 gene (6 BC, 1 ovarian carcinoma, 1 pancreatic cancer and 1 lung carcinoma).
23 risk reducing salpingo-oophorectomies and/or hysterectomies have been performed among 90 healthy BRCA1/2 mutation carriers (26%). In the same cohort, prophylactic mastectomy has been carried out in 4 of 90 women (4.5%). The low proportion of prophylactic surgical procedures is caused by low mean and median ages of these women.
Table 1. Basic characteristic of tested population.
| Analyzed gene | No. tested individuals | No. tested families | No. mut. carriers |
| BRCA1 | 1336 | 156 | 190 |
| BRCA2 | 1336 | 48 | 67 |
| CHEK2 | 1336 | 7 | 7 |
| P53 | 1211 | 4 | 4 |
| ATM | 1211 | 5 | 5 |
Conclusion: Specific preventive program for mutation
carriers is an effective option for identification of high/risk BC
patients at early and highly curable stages. Acknowledgement: The
study was supported by the grant MSM0021620808.
Disclosure: All authors have declared no conflicts of
interest.
Datum přednesení příspěvku: 10. 9. 2010
