The Fanconi anemia pathway in cancer

J Niraj, A Färkkilä, AD D'Andrea - Annual review of cancer …, 2019 - annualreviews.org
Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure
(BMF), congenital defects, inability to repair DNA interstrand cross-links (ICLs), and cancer …

Rethinking ovarian cancer II: reducing mortality from high-grade serous ovarian cancer

DD Bowtell, S Böhm, AA Ahmed, PJ Aspuria… - Nature reviews …, 2015 - nature.com
High-grade serous ovarian cancer (HGSOC) accounts for 70–80% of ovarian cancer deaths,
and overall survival has not changed significantly for several decades. In this Opinion article …

Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline

PA Konstantinopoulos, B Norquist… - Journal of Clinical …, 2020 - ascopubs.org
PURPOSE To provide recommendations on genetic and tumor testing for women diagnosed
with epithelial ovarian cancer based on available evidence and expert consensus …

[HTML][HTML] ESMO recommendations on predictive biomarker testing for homologous recombination deficiency and PARP inhibitor benefit in ovarian cancer

RE Miller, A Leary, CL Scott, V Serra, CJ Lord… - Annals of …, 2020 - Elsevier
Background Homologous recombination repair deficiency (HRD) is a frequent feature of
high-grade serous ovarian, fallopian tube and peritoneal carcinoma (HGSC) and is …

Inherited mutations in women with ovarian carcinoma

BM Norquist, MI Harrell, MF Brady, T Walsh… - JAMA …, 2016 - jamanetwork.com
Importance Germline mutations inBRCA1andBRCA2are relatively common in women with
ovarian, fallopian tube, and peritoneal carcinoma (OC) causing a greatly increased lifetime …

Gene-panel sequencing and the prediction of breast-cancer risk

DF Easton, PDP Pharoah, AC Antoniou… - … England Journal of …, 2015 - Mass Medical Soc
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …

NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017

MB Daly, R Pilarski, M Berry, SS Buys… - Journal of the National …, 2017 - jnccn.org
The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk
Assessment: Breast and Ovarian provide recommendations for genetic testing and …

Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins

R Prakash, Y Zhang, W Feng… - Cold Spring Harbor …, 2015 - cshperspectives.cshlp.org
Homologous recombination (HR) is a major pathway for the repair of DNA double-strand
breaks in mammalian cells, the defining step of which is homologous strand exchange …

Large-scale whole-genome sequencing of the Icelandic population

DF Gudbjartsson, H Helgason, SA Gudjonsson, F Zink… - Nature …, 2015 - nature.com
Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …

Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer

N Tung, NU Lin, J Kidd, BA Allen, N Singh… - Journal of Clinical …, 2016 - ascopubs.org
Purpose Testing for germline mutations in BRCA1/2 is standard for select patients with
breast cancer to guide clinical management. Next-generation sequencing (NGS) allows …