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open access:
Changes of Socio-demographic data of clients seeking genetic counseling for hereditary breast and ovarian cancer due to the “Angelina Jolie Effect” Austria
Conclusions
In this present study we could
demonstrate that particularly younger and female participants with high
educational level attended significantly more often genetic counseling
for HBOC. Increased presence of HBOC in media since AJ’s disclosure of
carrying a BRCA mutation had lead that information and awareness about
HBOC was obtained by a wider audience from different social background.
Background
In Europe, breast cancer is the most frequently diagnosed cancer in women with 464 000 new cases diagnosed in 2012 [1]. Generally, lifetime-risk of developing breast cancer (BC) is about 12-13 % [2]. BC is mainly a sporadic disease and only 7-15 % of all BC cases are thought to be inherited [3, 4].
About 40-60 % of hereditary breast and ovarian cancers (HBOC) are due
to the presence of germline mutations in the breast cancer
susceptibility genes type 1 and 2 (BRCA1 and BRCA2) [5]. BRCA mutations are associated with early onset disease and distinct elevated risk of developing BC and ovarian cancer (OC) [6].
The cumulative lifetime risk of BRCA1 mutation carriers is up to 85 %
for BC and 20-40 % for OC, whereas BRCA2 mutations carriers have
somewhat lesser risk for BC (45-84 %) and a risk up to 31 % for OC [7, 8, 9, 10, 11].
Genetic
counseling and testing for BRCA1 and BRCA2 mutations is recommended for
members of families with familial clustering of BC and/or OC. In
Austria, clients have to fulfill specific criteria of medical and / or
familial history to enable insurance covered genetic testing. Therefore,
individual guidelines exist [12, 13].
Identification of subjects at risk for HBOC is necessary in order to
offer distinct strategies to deal with this elevated risk. First,
intensified surveillance to allow earlier cancer detection can be
offered. Furthermore, risk reducing procedures like bilateral mastectomy
and / or salpingo-oophorectomy are obtainable [14, 15].....
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