Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature

L Carlsson, E Thain, B Gillies, K Metcalfe - Hereditary Cancer in Clinical …, 2022 - Springer
Introduction Knowledge of the genetic mechanisms driving hereditary breast and ovarian
cancer (HBOC) has recently expanded due to advances in gene sequencing technologies …

Progress in genome-inspired treatment decisions for multifocal lung adenocarcinoma

CL Powell, SA Saddoughi, DA Wigle - Expert Review of …, 2023 - Taylor & Francis
Introduction Multifocal lung adenocarcinoma (MFLA) is becoming increasingly recognized
as a distinct subset of lung cancer, with unique biology, disease course, and treatment …

Familial risks and proportions describing population landscape of familial cancer

K Hemminki, K Sundquist, J Sundquist, A Försti… - Cancers, 2021 - mdpi.com
Simple Summary Familial cancer can be defined through the occurrence of the same cancer
in two or more family members. Hereditary cancer is a narrower definition of high-risk …

Nationwide trends and determinants of germline BRCA1/2 testing in patients with breast and ovarian cancer

KS Lau-Min, AM McCarthy, KL Nathanson… - Journal of the National …, 2023 - jnccn.org
Background: Germline genetic testing (GT) for BRCA1/2 is instrumental in identifying
patients with breast and ovarian cancers who are eligible for PARP inhibitors (PARPi). Little …

Different risk genes contribute to clear cell and non-clear cell renal cell carcinoma in 1532 Japanese patients and 5996 controls

Y Sekine, Y Iwasaki, T Aoi, M Endo… - Human Molecular …, 2022 - academic.oup.com
Identifying causative genes via genetic testing is useful for screening, preventing and
treating cancer. Several hereditary syndromes occur in patients with renal cell carcinoma …

Are population level familial risks and germline genetics meeting each other?

K Hemminki, X Li, A Försti, C Eng - Hereditary cancer in clinical practice, 2023 - Springer
Large amounts of germline sequencing data have recently become available and we sought
to compare these results with population-based family history data. Family studies are able …

Hereditary variants of unknown significance in African American women with breast cancer

JT McDonald, LJ Ricks-Santi - Plos one, 2022 - journals.plos.org
Expanded implementation of genetic sequencing has precipitously increased the discovery
of germline and somatic variants. The direct benefit of identifying variants in actionable …

Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?

E Lucci-Cordisco, S Amenta, A Panfili… - European journal of …, 2022 - Elsevier
One of the main factors influencing the clinical utility of genetic tests for cancer
predisposition is the ability to provide actionable classifications (ie pathogenic or benign) …

Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss

S Clay, A Evans, R Zambrano, D Otohinoyi… - Frontiers in …, 2024 - frontiersin.org
Introduction Rapid advancements in Next Generation Sequencing (NGS) and bioinformatics
tools have allowed physicians to obtain genetic testing results in a more rapid, cost-effective …

Genetic counselors' experience with reimbursement and patient out‐of‐pocket cost for multi‐cancer gene panel testing for hereditary cancer syndromes

CB Weldon, JR Trosman, SY Liang… - Journal of genetic …, 2022 - Wiley Online Library
Multi‐cancer gene panels for hereditary cancer syndromes (hereditary cancer panels,
HCPs) are widely available, and some laboratories have programs that limit patients' out‐of …