作者
Melissa C Southey, Zhi L Teo, James G Dowty, Fabrice A Odefrey, Daniel J Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham B Byrnes, Ingrid Winship, Laura Baglietto, Graham G Giles, David E Goldgar, William D Foulkes, John L Hopper, kConFab msouthey@ unimelb. edu. au, Breast Cancer Family Registry msouthey@ unimelb. edu. au
发表日期
2010/12
期刊
Breast Cancer Research
卷号
12
页码范围
1-10
出版商
BioMed Central
简介
Introduction
As a group, women who carry germline mutations in partner and localizer of breast cancer 2 susceptibility protein (PALB2) are at increased risk of breast cancer. Little is known about by how much or whether risk differs by mutation or family history, owing to the paucity of studies of cases unselected for family history.
Methods
We screened 1,403 case probands for PALB2 mutations in a population-based study of Australian women with invasive breast cancer stratified by age at onset. The age-specific risk of breast cancer was estimated from the cancer histories of first- and second-degree relatives of mutation-carrying probands using a modified segregation analysis that included a polygenic modifier and was conditioned on the carrier case proband. Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with …
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MC Southey, ZL Teo, JG Dowty, FA Odefrey, DJ Park… - Breast Cancer Research, 2010