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Hereditary ovarian and breast cancer: what have we learned?

Lynch(H T),Snyder(C),Casey(M J) Ann Oncol 2014-05-13

...BRCA2 as being responsible for hereditary BC and OC (HBOC) in many women with early-onset HBOC. More recently, modifiers...

Capillary electrophoresis analysis of conventional splicing assays: IARC anal...

de Garibay(Gorka Ruiz),Acedo(Alberto),Garc... Hum Mutat 2014-07-30

...BRCA2 genetic variants. All variants were assessed by RT-PCR followed by capillary electrophoresis and direct sequencing...

An investigation of the effects of FGFR2 and B7-H4 polymorphisms in breast ca...

Ozgöz(Asuman),Samli(Hale),Oztürk(Kuyaș Hek... J Cancer Res Ther 2014-08-07

...BRCA2, PTEN, and TP53, can be investigated as potential modifiers of high penetrant risk alleles. Although the B7-H4 gen...

Appraising iniparib, the PARP inhibitor that never was--what must we learn?

Mateo(Joaquin),Ong(Michael),Tan(David S P)... Nat Rev Clin Oncol 2014-07-24

...BRCA2, with further data supporting antitumour activity of PARP inhibitors in sporadic ovarian cancer. Strategies to ide...

MicroRNA signatures in hereditary breast cancer.

Murria Estal(Rosa),Palanca Suela(Sarai),de... Breast Cancer Res Treat 2014-06-09

...BRCA2 and RASSF1 methylation analysis, AURKA copy number variations, and BRCA1 and BRCA2 deletions, were studied by MLPA...

About 1% of the breast and ovarian Spanish families testing negative for BRCA...

Gutiérrez-Enríquez(Sara),Bonache(Sandra),d... Int J Cancer 2014-04-02

...BRCA2 mutations. We analyzed 842 index patients: 491 from BC/OC families, 171 BC families, 51 OC families and 129 patien...

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2...

Janatova(Marketa),Kleibl(Zdenek),Stribrna(... Cancer Epidemiol Biomarkers... 2014-10-02

...BRCA2 mutations. Testing for large genomic rearrangements (LGR) was performed by multiplex ligation-dependent probe ampl...

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as f...

Osorio(Ana),Bogliolo(Massimo),Fernández(Vi... Hum Mutat 2014-06-16

...BRCA2 mutations and 854 controls. The frequency of ERCC4 mutation carriers does not differ between cases and controls, s...

Women with familial risk for breast cancer have an increased frequency of ald...

Isfoss(Björn L),Holmqvist(Bo),Jernström(He... BMC Clin Pathol 2014-01-17

...BRCA2 cancer patients (p = 0.02). Among post-menopausal patients, only on-going hormone replacement therapy was correlat...

Evaluation of a 5-tier scheme proposed for classification of sequence variant...

Walker(Logan C),Whiley(Phillip J),Houdayer... Hum Mutat 2014-07-21

...BRCA2 unique variants, from 77 publications. At least six independent reviewers from research and/or clinical settings c...

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