The Outcomes of the Specialized Genetic Program Provided for the Carriers of the Genetic Alterations Predisposing to the Breast Cancer.

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.; Doc. 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.

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