Tap á BRCA2 villigerðarsamsætu í brjóstaæxlum með BRCA2 kímlínustökkbreytingu
Aukin áhætta á brjóstakrabbameini tengist mjög ættlægum stökkbreytingum í BRCA1 eða BRCA2 geni. Á Íslandi má rekja stóran hluta ættlægra brjóstakrabbameina til einnar úrfellingar/stökkbreytingar í BRCA2 geni sem kallast 999del5.
Hörður Bjarnason 1978-
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Identification of <i>BRCA2</i> Likely Germline Pathogenic Variants in Patients with Multiple Primary Lung Adenocarcinomas. [PDF]
Quoc Tran D +11 more
europepmc +1 more source
Impaired glucose tolerance in women with BRCA1 versus BRCA2 pathogenic or likely pathogenic variants: Results from a prospective cohort study. [PDF]
Grandi G +20 more
europepmc +1 more source
Comprehensive <i>BRCA1/2</i> mutation landscape in prostate cancer in the UAE and Arab population. [PDF]
Al Shareef ZM +11 more
europepmc +1 more source
Simultaneous Risk-Reducing Mastectomy and Salpingo-Oophorectomy in Patients with <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants: A Single-Center Retrospective Cohort Study. [PDF]
Diaz R +20 more
europepmc +1 more source
The Performance of <i>In Silico</i> Prediction Tools for Variant Curation in a Panel of Cancer Genes. [PDF]
Nelson N +5 more
europepmc +1 more source
Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting. [PDF]
Pehrsson M +11 more
europepmc +1 more source
Altered Estrogen Receptor Signaling Pathway in BRCA2-Deficient Estrogen Receptor-Positive/HER2-Negative Breast Cancer. [PDF]
Kawasaki K +12 more
europepmc +1 more source
Refining breast cancer risk estimation in carriers of pathogenic <i>BRCA2</i> variants. [PDF]
Conde DM, Sandoval RL.
europepmc +1 more source

