Nature

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort

Hereditary gynecologic cancers include breast, ovarian, and endometrial cancer, as well as some other rare cancers of the female reproductive system 1, where a pathogenic variant, leading to a ...
ascopubs.org

Germline pathogenic variants in cancer predisposition genes and overall survival of women with breast cancer.

Association between type of BRCA1/2 pathogenic/likely pathogenic variants and outcome in young patients with breast cancer: Results from an international cohort study. This is an ASCO Meeting Abstract ...
ascopubs.org

Prevalence of pathogenic or likely pathogenic germline mutations in patients with metastatic renal cell cancer.

Lenvatinib and pembrolizumab in patients with metastatic papillary renal cell carcinoma: A phase 2 pilot study. Differences in the expression heterogeneity of ADC-related markers between primary ...
Nature

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, ...