scholarly journals Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry

2011 ◽  
Vol 13 (1) ◽  
Author(s):  
Letitia D Smith ◽  
Andrea A Tesoriero ◽  
Ee M Wong ◽  
Susan J Ramus ◽  
Frances P O'Malley ◽  
...  
1988 ◽  
Vol 11 (3) ◽  
pp. 263-267 ◽  
Author(s):  
Henry T. Lynch ◽  
Patrice Watson ◽  
Theresa Conway ◽  
Mary Lee Fitzsimmons ◽  
Jane Lynch

1996 ◽  
Vol 8 (4) ◽  
pp. 393-393 ◽  
Author(s):  
Beate Waindzoch ◽  
Klaus Grade ◽  
Burkhard Jandrig ◽  
Manuela Müller ◽  
Peter Schlag ◽  
...  

1999 ◽  
Vol 142 (1) ◽  
pp. 71-73 ◽  
Author(s):  
Orland Dı́ez ◽  
Montserrat Domènech ◽  
Joan Cortés ◽  
Elisabeth Del Rı́o ◽  
Joan Brunet ◽  
...  

PLoS ONE ◽  
2016 ◽  
Vol 11 (11) ◽  
pp. e0165436 ◽  
Author(s):  
Cameron M. Scott ◽  
JiHoon Eric Joo ◽  
Neil O’Callaghan ◽  
Daniel D. Buchanan ◽  
Mark Clendenning ◽  
...  

2018 ◽  
Vol 105 (3) ◽  
pp. 404-410 ◽  
Author(s):  
Cameron M. Scott ◽  
Ee Ming Wong ◽  
JiHoon Eric Joo ◽  
Pierre-Antoine Dugué ◽  
Chol-Hee Jung ◽  
...  

The Breast ◽  
1997 ◽  
Vol 6 (4) ◽  
pp. 253-254
Author(s):  
P. Hopwood ◽  
F. Keeling ◽  
J. Thompson ◽  
C. Pool ◽  
A. Howell ◽  
...  

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.


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