scholarly journals Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer

2011 ◽  
Vol 2 (6) ◽  
pp. 1287-1289 ◽  
Author(s):  
ORLAND DIEZ ◽  
AMADEU PELEGRÍ ◽  
NEUS GADEA ◽  
SARA GUTIÉRREZ-ENRÍQUEZ ◽  
MIRIAM MASAS ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Triple Negative ◽  
Deleterious Mutation ◽  
Early Onset Breast Cancer

BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer

2008 ◽  
Vol 113 (2) ◽  
pp. 393-395 ◽  
Author(s):  
S. Eric Martin ◽  
Mark Sausen ◽  
Abraham Joseph ◽  
David D. Biggs ◽  
Brewster F. Kingham ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Early Onset ◽  
Deleterious Mutation ◽  
Early Onset Breast Cancer ◽  
African American Individual

scholarly journals High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

2021 ◽  
pp. jmedgenet-2020-107347
Author(s):  
D Gareth Evans ◽  
Elke Maria van Veen ◽  
Helen J Byers ◽  
Sarah J Evans ◽  
George J Burghel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Ductal Carcinoma ◽  
Cancer Genes ◽  
Early Onset Breast Cancer ◽  
Younger Women ◽  
Pathogenic Variants ◽  
Younger Age ◽  
Predisposition Genes

BackgroundWhile the likelihood of identifying constitutional breast cancer-associated BRCA1, BRCA2 and TP53 pathogenic variants (PVs) increases with earlier diagnosis age, little is known about the correlation with age at diagnosis in other predisposition genes. Here, we assessed the contribution of known breast cancer-associated genes to very early onset disease.MethodsSequencing of BRCA1, BRCA2, TP53 and CHEK2 c.1100delC was undertaken in women with breast cancer diagnosed ≤30 years. Those testing negative were screened for PVs in a minimum of eight additional breast cancer-associated genes. Rates of PVs were compared with cases ≤30 years from the Prospective study of Outcomes in Sporadic vs Hereditary breast cancer (POSH) study.ResultsTesting 379 women with breast cancer aged ≤30 years identified 75 PVs (19.7%) in BRCA1, 35 (9.2%) in BRCA2, 22 (5.8%) in TP53 and 2 (0.5%) CHEK2 c.1100delC. Extended screening of 184 PV negative women only identified eight additional actionable PVs. BRCA1/2 PVs were more common in women aged 26–30 years than in younger women (p=0.0083) although the younger age group had rates more similar to those in the POSH cohort. Out of 26 women with ductal carcinoma in situ (DCIS) alone, most were high-grade and 11/26 (42.3%) had a PV (TP53=6, BRCA2=2, BRCA1=2, PALB2=1). This PV yield is similar to the 61 (48.8%) BRCA1/2 PVs identified in 125 women with triple-negative breast cancer. The POSH cohort specifically excluded pure DCIS which may explain lower TP53 PV rates in this group (1.7%).ConclusionThe rates of BRCA1, BRCA2 and TP53 PVs are high in very early onset breast cancer, with limited benefit from testing of additional breast cancer-associated genes.

Breast cancer family history as a risk factor for early onset breast cancer

1988 ◽  
Vol 11 (3) ◽  
pp. 263-267 ◽  
Author(s):  
Henry T. Lynch ◽  
Patrice Watson ◽  
Theresa Conway ◽  
Mary Lee Fitzsimmons ◽  
Jane Lynch
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Family History ◽  
Early Onset ◽  
Early Onset Breast Cancer ◽  
Breast Cancer Family ◽  
Cancer Family ◽  
Cancer Family History ◽  
Breast Cancer Family History

scholarly journals A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer

2011 ◽  
Vol 10 (2) ◽  
pp. 233-237 ◽  
Author(s):  
Ava Kwong ◽  
Enders K. O. Ng ◽  
Edmund Y. H. Tang ◽  
Chris L. P. Wong ◽  
Fian B. F. Law ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
De Novo ◽  
Brca1 Mutation ◽  
Chinese Woman ◽  
Early Onset Breast Cancer

Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey

2016 ◽  
Vol 43 (11) ◽  
pp. 1273-1284 ◽  
Author(s):  
G. Cecener ◽  
G. Guney Eskiler ◽  
U. Egeli ◽  
B. Tunca ◽  
A. Alemdar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Sequence Variants ◽  
Early Onset Breast Cancer

C-erbB-2 overexpression and survival in early onset breast cancer

2000 ◽  
Vol 63 (1) ◽  
pp. 23-29 ◽  
Author(s):  
Måns Agrup ◽  
Olle Stäl ◽  
Karen Olsen ◽  
Sten Wingren
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Early Onset Breast Cancer

scholarly journals The analysis ofBRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives

2003 ◽  
Vol 22 (1) ◽  
pp. 104-104 ◽  
Author(s):  
Zhen Hu ◽  
Jiong Wu ◽  
Can-Hui Liu ◽  
Jing-Song Lu ◽  
Jian-Ming Luo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Chinese Patients ◽  
Early Onset Breast Cancer

Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status

The Lancet ◽  
2002 ◽  
Vol 359 (9316) ◽  
pp. 1471-1477 ◽  
Author(s):  
Bruce G Haffty ◽  
Elizabeth Harrold ◽  
Atif J Khan ◽  
Pradip Pathare ◽  
Tanya E Smith ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Early Onset Breast Cancer
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