scholarly journals Inactivation of the retinoblastoma tumour suppressor pathway in premenopausal breast cancer is associated with resistance to tamoxifen

2009 ◽  
Vol 11 (S1) ◽  
Author(s):  
S Lehn ◽  
G Landberg
Keyword(s):  
Breast Cancer ◽  
Tumour Suppressor ◽  
Premenopausal Breast Cancer ◽  
Retinoblastoma Tumour Suppressor

A CYP19 (aromatase) polymorphism is associated with increased premenopausal breast cancer risk

2007 ◽  
Vol 111 (3) ◽  
pp. 481-487 ◽  
Author(s):  
Kathryn E. Talbott ◽  
Marilie D. Gammon ◽  
Muhammad G. Kibriya ◽  
Yu Chen ◽  
Susan L. Teitelbaum ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Premenopausal Breast Cancer

Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years

2021 ◽  
pp. jmedgenet-2021-107742
Author(s):  
Alice Garrett ◽  
Sabrina Talukdar ◽  
Louise Izatt ◽  
Angela F Brady ◽  
Sinead Whyte ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Pathogenic Variant ◽  
Her2 Status ◽  
Clinical Genetics ◽  
Premenopausal Breast Cancer ◽  
Genetic Test Results ◽  
Genetics Services ◽  
Clinical Genetics Services ◽  
The Impact

BackgroundThe most common cancer diagnosed in germline TP53 pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is recommended in PV carriers.Objectives1. To assess the frequency of germline TP53 PVs reported diagnostically in women with breast cancer at <30 years of age.2. To evaluate the impact of personal/family history and HER2 status on the likelihood of germline TP53 pathogenic/likely pathogenic variant (PV/LPV) identification.MethodsGenetic test results from patients undergoing diagnostic germline TP53 tests between 2012 and 2017 in the four London Regional Clinical Genetics Services were reviewed. Clinical/pathology data and family history were extracted from genetics files for women diagnosed with breast cancer at <30 years.ResultsThe overall germline TP53 PV/LPV variant detection rate was 9/270=3.3% in all women diagnosed with breast cancer at <30 years and 2/171=1.2% in those with no second/subsequent cancer diagnosis or family history of TP53-spectrum cancers. Breast cancers were significantly more likely to be HER2-positive in TP53 PV/LPV carriers than in non-carriers (p=0.00006).ConclusionsGermline TP53 PVs/LPVs are uncommon among women diagnosed with breast cancer aged <30 years without other relevant personal or family cancer history but have an important clinical impact when identified.

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