Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

1995 ◽  
Vol 11 (4) ◽  
pp. 428-433 ◽  
Author(s):  
Simon A. Gayther ◽  
William Warren ◽  
Sylvie Mazoyer ◽  
Paul A. Russell ◽  
Patricia A. Harrington ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Germline Mutations ◽  
Phenotype Correlation ◽  
Breast And Ovarian Cancer ◽  
Genotype Phenotype Correlation

scholarly journals High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

2005 ◽  
Vol 7 (5) ◽  
Author(s):  
Petr Pohlreich ◽  
Michal Zikan ◽  
Jana Stribrna ◽  
Zdenek Kleibl ◽  
Marketa Janatova ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer

scholarly journals Identification of Novel BRCA1 Germline Deleterious Variant Among a Tunisian Family

2021 ◽  
pp. 1-7
Author(s):  
Hela Sassi ◽  
Hela Sassi ◽  
Rym Meddeb ◽  
Mediha Trabelsi ◽  
Samia Hannachi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Ductal Carcinoma ◽  
Brca1 Mutation ◽  
Phenotype Correlation ◽  
Breast And Ovarian Cancer ◽  
Ovarian Adenocarcinoma ◽  
Brca1 Protein ◽  
Genotype Phenotype Correlation ◽  
Deleterious Variant ◽  
Tunisian Family

Inherited predisposition to breast and ovarian cancer are most frequently due to germline mutations in the main genes BRCA1 (OMIM# 113705) and BRCA2 (OMIM# 600185). These inactivating mutations, essentially frameshift and nonsense variation, occurs mainly across conserved regions. The aim of the present study is to report a novel germline BRCA1 mutation identified in a Tunisian family case with early onset of breast and ovarian cancer and to evaluate the genotype phenotype correlation. The proband had high-grade tumors, invasive unilateral ductal carcinoma developed at the age of 38 and a serous ovarian adenocarcinoma after a gap of twelve years. The molecular analysis revealed a novel heterozygous nonsense BRCA1 mutation NM_007294.4: c.915T>A p.(C305*) in the proband and her daughter. This mutation leads to a truncated protein which pathogenicity was validated by bioinformatics tools. This variant is subject to nonsense-mediated mRNA decay. We also underlined the immunohistochemistry usefulness by lack of expression of BRCA1 protein in paraffin embedded breast tumor contrasting with normal tissue. Clinical and pathological data tend to be homogeneous and led to the conclusion that there is a genotype phenotype correlation in BRCA1, an element that must be taken into account in genetic counselling. Conclusively, we are the first to report this novel BRCA1 germline likely deleterious variant extending the molecular and clinical spectrum of BRCA1 pathogenic point mutations. Further in vitro functional experiments needs to be established. High-risk individuals carrying this BRCA1 mutation benefit from preventive measures to reduce morbidity.

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

scholarly journals Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer

2015 ◽  
Vol 3 (5) ◽  
pp. 459-466 ◽  
Author(s):  
Yosuke Hirotsu ◽  
Hiroshi Nakagomi ◽  
Ikuko Sakamoto ◽  
Kenji Amemiya ◽  
Toshio Oyama ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Dna Repair ◽  
Germline Mutations ◽  
Dna Repair Genes ◽  
Panel Analysis ◽  
Breast And Ovarian Cancer ◽  
Repair Genes ◽  
Multigene Panel

Mutations in the BRCA1 gene in it alian breast and ovarian cancer patients

1997 ◽  
Vol 33 ◽  
pp. S9
Author(s):  
L. Ottini ◽  
C. D’Amico ◽  
C. Noviello ◽  
C. Pizzi ◽  
S. Lauro ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Breast And Ovarian Cancer

A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer

2001 ◽  
Vol 37 (15) ◽  
pp. 1904-1909 ◽  
Author(s):  
Z Einbeigi ◽  
A Bergman ◽  
L.-G Kindblom ◽  
T Martinsson ◽  
J.M Meis-Kindblom ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Founder Mutation ◽  
Brca1 Gene ◽  
Breast And Ovarian Cancer ◽  
High Incidence
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