Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study
详细信息 查看全文
- 作者：Jacopo Azzollinia ; Jacopo.Azzollini@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Giulietta Scuveraa ; giulietta.scuvera@hotmail.it" class="auth_mail" title="E-mail the corresponding author ; Eleonora Brunob ; c ; Eleonora.Bruno@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Patrizia Pasanisib ; Patrizia.Pasanisi@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Daniela Zaffaronia ; Daniela.Zaffaroni@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Mariarosaria Calvelloa ; mariarosaria.calvello@yahoo.it" class="auth_mail" title="E-mail the corresponding author ; Barbara Pasinid ; e ; barbara.pasini@unito.it" class="auth_mail" title="E-mail the corresponding author ; Carla B. Ripamontif ; Carla2.Ripamonti@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Mara Colombof ; Mara.Colombo@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Valeria Pensottig ; h ; valeria.pensotti@ifom.eu" class="auth_mail" title="E-mail the corresponding author ; Paolo Radicef ; paolo.radice@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Bernard Peissela ; Bernard.Peissel@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author ; Siranoush Manoukiana ; Siranoush.Manoukian@istitutotumori.mi.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：Genetic testing ; Hereditary breast and ovarian cancer syndrome ; Selection criteria ; BRCA1 gene ; BRCA2 gene
- 刊名：European Journal of Internal Medicine
- 出版年：2016
- 出版时间：July 2016
- 年：2016
- 卷：32
- 期：Complete
- 页码：65-71
- 全文大小：323 K
文摘
- class="listitem" id="list_l0165">
- class="label">•
A set of selection criteria is evaluated comparing BRCA1/2 mutation detection rates.
- class="label">•
Ovarian, early onset/bilateral breast cancer families show higher detection rates.
- class="label">•
Detection rates depend on the age of both first and contralateral breast cancers.
- class="label">•
Detection rates are low in young breast cancer cases without family history.
- class="label">•
A fast selection tool can help clinicians caring for breast/ovarian cancer patients.