Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women
Sign Up to like & getrecommendations! Published in 2020 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-020-05643-0
Abstract: Purpose Limited studies have been conducted to evaluate pathogenetic mutations in breast cancer predisposition genes among Chinese women. To fully characterize germline mutations of these genes in this population, we used the whole-exome sequencing data… read more here.
Keywords: predisposition genes; breast cancer; cancer predisposition; cancer ... See more keywords
Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
Sign Up to like & getrecommendations! Published in 2019 at "Gynecologic oncology"
DOI: 10.1016/j.ygyno.2019.01.027
Abstract: OBJECTIVE Germline mutations occurring in the highly penetrant genes BRCA1 and BRCA2 are responsible for only certain cases of familial breast cancer (BC) and ovarian cancer (OC). Thus, the use of NGS multi-gene panel (MGP)… read more here.
Keywords: risk; predisposition genes; ovarian cancer; cancer ... See more keywords
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883)
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2018-105930
Abstract: Background For individuals with ovarian cancer (OC), therapy options mainly depend on BRCA1/2 germline status. What is the prevalence of deleterious somatic variants, that is, does genetic tumour testing identify subgroups of individuals who also… read more here.
Keywords: predisposition genes; somatic variants; brca1; deleterious somatic ... See more keywords
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.21.00640
Abstract: PURPOSE To determine the contribution of germline pathogenic variants (PVs) in hereditary cancer testing panel genes to invasive lobular carcinoma (ILC) of the breast. MATERIALS AND METHODS The study included 2,999 women with ILC from… read more here.
Keywords: cancer predisposition; carcinoma; cancer; women ilc ... See more keywords
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers
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DOI: 10.1371/journal.pone.0194098
Abstract: Background While a number of autosomal dominant and autosomal recessive cancer syndromes have an associated spectrum of cancers, the prevalence and variety of cancer predisposition mutations in patients with multiple primary cancers have not been… read more here.
Keywords: predisposition genes; primary cancers; cutaneous melanoma; patients multiple ... See more keywords
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis
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DOI: 10.3390/cancers15061852
Abstract: Simple Summary Approximately 5–10% of all pancreatic adenocarcinomas (PDACs) are caused by highly penetrant pathogenic germline variants (PVs). Specific surveillance programs and eventual targeted oncological therapies can be offered to patients carrying some of the… read more here.
Keywords: genes patients; related hereditary; predisposition genes; suspected related ... See more keywords
Germline multigene panel testing of patients with endometrial cancer
Sign Up to like & getrecommendations! Published in 2023 at "Oncology Letters"
DOI: 10.3892/ol.2023.13802
Abstract: Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study,… read more here.
Keywords: endometrial cancer; ggt; panel; predisposition genes ... See more keywords