Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.
Description of the various modalities of breast and ovarian cancer risk management, patient choices and their outcome in a single-center cohort of 158 unaffected women carrying a BRCA1 or BRCA2 germline mutation. Between 1998 and 2009, 158 unaffected women carrying a BRCA1 or BRCA2 gene mutation were prospectively followed. The following variables were studied: general and gynecological characteristics, data concerning any prophylactic procedures, and data concerning the outcome of these patients. Median age at inclusion was 37 years and median follow-up was 54 months. Among the 156 women who received systematic information about prophylactic mastectomy, 5.3 % decided to undergo surgery within 36 months after disclosure of genetic results. Prophylactic salpingo-oophorectomy was performed in 68 women. Among women in whom follow-up started between the ages of 40 and 50 years, prophylactic salpingo-oophorectomy was performed, within 24 months after start of follow-up, in 83.7 and 52 % of women with BRCA1 and BRCA2 mutations, respectively. Twenty four women developed breast cancer. Ovarian cancer was detected during prophylactic salpingo-oophorectomy in two women (2.9 %). In this cohort of French women carrying BRCA1/2 mutations, prophylactic mastectomy was a rarely used option. However, good compliance with prophylactic salpingo-oophorectomy was observed. This study confirms the high breast cancer risk in these women.
Department of Tumor Biology, Institut Curie, 26 rue d'Ulm, 75248, Paris cedex 05, France. pascale.this@curie.net
Pascale
P
This
Anne
A
de la Rochefordière
Alexia
A
Savignoni
Marie Christine
MC
Falcou
Anne
A
Tardivon
Fabienne
F
Thibault
Séverine
S
Alran
Virgine
V
Fourchotte
Alfred
A
Fitoussi
Benoit
B
Couturaud
Sylvie
S
Dolbeault
Remy J
RJ
Salmon
Brigitte
B
Sigal-Zafrani
Bernard
B
Asselain
Dominique
D
Stoppa-Lyonnet
D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control*; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D005602:France; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008408:Mastectomy; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control*; D010052:Ovariectomy; D011247:Pregnancy; D058994:Salpingectomy
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human