Germline BRCA1 Gene Mutation

The correlation of mammographic-and histologic patterns of breast cancers in BRCA1 gene mutation carriers, compared to age-matched sporadic controls

European Radiology ◽

10.1007/s00330-006-0385-0 ◽

2006 ◽

Vol 16 (12) ◽

pp. 2842-2848 ◽

Cited By ~ 14

Author(s):

R. Kaas ◽

R. Kroger ◽

J. L. Peterse ◽

A. A. M. Hart ◽

S. H. Muller

Keyword(s):

Gene Mutation ◽

Brca1 Gene ◽

Breast Cancers ◽

Brca1 Gene Mutation ◽

Mutation Carriers

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Comparison of whole genome amplification and nested-PCR methods for preimplantation genetic diagnosis for BRCA1 gene mutation on unfertilized oocytes–a pilot study

Hereditary Cancer in Clinical Practice ◽

10.1186/1897-4287-11-10 ◽

2013 ◽

Vol 11 (1) ◽

Cited By ~ 5

Author(s):

Danuta Michalska ◽

Kinga Jaguszewska ◽

Joanna Liss ◽

Kamila Kitowska ◽

Agata Mirecka ◽

...

Keyword(s):

Pilot Study ◽

Gene Mutation ◽

Preimplantation Genetic Diagnosis ◽

Nested Pcr ◽

Whole Genome Amplification ◽

Genetic Diagnosis ◽

Brca1 Gene ◽

Whole Genome ◽

Genome Amplification ◽

Brca1 Gene Mutation

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Autoantibodies directed to centromere protein F in a patient with BRCA1 gene mutation

Pathology ◽

10.1097/01.pat.0000461600.29169.d9 ◽

2015 ◽

Vol 47 ◽

pp. S94

Author(s):

Fiona Moghaddas ◽

Fredrick Joshua ◽

Bobbie Taylor ◽

Marv Fritzler ◽

Ban Hock Toh

Keyword(s):

Gene Mutation ◽

Brca1 Gene ◽

Brca1 Gene Mutation ◽

Centromere Protein ◽

Protein F

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Genetic testing and interpretive complexity: a BRCA1 gene mutation example

Irish Journal of Medical Science (1971 -) ◽

10.1007/s11845-014-1238-5 ◽

2014 ◽

Vol 185 (4) ◽

pp. 955-957

Author(s):

D. S. Gogarty ◽

M. P. Farrell ◽

D. J. Gallagher

Keyword(s):

Genetic Testing ◽

Gene Mutation ◽

Brca1 Gene ◽

Brca1 Gene Mutation

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HE4 Serum Levels in Patients with BRCA1 Gene Mutation Undergoing Prophylactic Surgery as well as in Other Benign and Malignant Gynecological Diseases

Disease Markers ◽

10.1155/2017/9792756 ◽

2017 ◽

Vol 2017 ◽

pp. 1-13 ◽

Cited By ~ 5

Author(s):

Anita Chudecka-Głaz ◽

Aneta Cymbaluk-Płoska ◽

Aleksandra Strojna ◽

Janusz Menkiszak

Keyword(s):

Endometrial Cancer ◽

Gene Mutation ◽

Uterine Cancer ◽

Brca1 Gene ◽

Prophylactic Surgery ◽

Ca 125 ◽

Fallopian Tube Cancer ◽

Brca1 Gene Mutation ◽

Gynecological Diseases ◽

Diagnostic Usefulness

Objective. We assess the behavior of serum concentrations of HE4 marker in female carriers of BRCA1 and assess the diagnostic usefulness of HE4 in ovarian and endometrial cancer.Methods. A total of 619 women with BRCA1 gene mutation, ovarian, endometrial, metastatic, other gynecological cancers, or benign gynecological diseases were included. Intergroup comparative analyses were carried out, the BRCA1 gene carriers subgroup was subjected to detailed analysis, and ROC curves were determined for the assessment of diagnostic usefulness of HE4 in ovarian and endometrial cancer.Results. Statistically lower serum HE4 and CA 125 levels were observed in BRCA1 gene mutation premenopausal carriers. Occult ovarian/fallopian tube cancer was found 3.6%. Each of those patients was characterized by slightly elevated levels of either CA 125 (63.9 and 39.4 U/mL) or HE4 (79 pmol/L). The ROC-AUC curves were 0.892 and 0.894 for diagnostic usefulness of ovarian cancer and 0.865 for differentiation of endometrial cancer from endometrial polyps.Conclusions. Patients with BRCA1 gene mutations have relatively low serum HE4 levels. Even the slightest elevation in HE4 or CA 125 levels in female BRCA1 carriers undergoing prophylactic surgery should significantly increase oncological alertness. The HE4 marker is valuable in ovarian and uterine cancer diagnosis.

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