Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers
نویسندگان
چکیده
منابع مشابه
Pathogenic Germline Variants in 10,389 Adult Cancers
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletion...
متن کاملPrevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer
Pathogenic germline BRCA1, BRCA2 (BRCA1/2), and several other gene variants predispose women to primary ovarian, fallopian tube, and peritoneal carcinoma (OC), although variant frequency and relevance information is scarce in Japanese women with OC. Using targeted panel sequencing, we screened 230 unselected Japanese women with OC from our hospital-based cohort for pathogenic germline variants ...
متن کاملPrevalence of Pathogenic Genes cagA and vacA of Helicobacter pylori Isolated in Patients with Digestive Disorders
Background and Aims: Helicobacter pylori is the main cause of various gastroduodenal diseases. It is estimated that app roximately, more than half of the adult population in developed countries and 90% of people in developing countries infected with H. pylori. H. pylori infection may be related to Genetic of virulence factors and environmental factors. The aim of this study was to assess of fre...
متن کاملPrevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients
Germline mutations in BRCA1 and BRCA2 are the most penetrating genetic predispositions for breast and ovarian cancer, and their presence is largely ethnic-specific. Comprehensive information about the prevalence and spectrum of BRCA mutations has been collected in European and North American populations. However, similar information is lacking in other populations, including the mainland Chines...
متن کاملDetermining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
OBJECTIVES To determine the frequency of pathogenic inherited mutations in 157 select genes from patients with metastatic castrate-resistant prostate cancer (mCRPC). DESIGN Observational. SETTING Multisite US-based cohort. PARTICIPANTS Seventy-one adult male patients with histological confirmation of prostate cancer, and had progressive disease while on androgen deprivation therapy. RES...
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ژورنال
عنوان ژورنال: JNCI Cancer Spectrum
سال: 2020
ISSN: 2515-5091
DOI: 10.1093/jncics/pkaa094