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11 records shown · first 60Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.
PMID 42106728 | PMCID PMC13326088 | DOI 10.1186/s12957-026-04409-0 · World journal of surgical oncology · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “Completion right thyroidectomy with right inferior parathyroidectomy revealed multifocal PTC comprising classical variant foci, a 1.2 cm Warthin-like variant harboring BRAF V600E mutation, and a 0.2 cm follicular variant with NRAS G13R mutation.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.” | 0.98 | hgnc_dict_v1 |
| gene | NRAS | “Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.” | 0.98 | hgnc_dict_v1 |
| phenotype | thyroid cancer | “Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.” | 0.93 | phenotype_alias_lexicon_v2 |
Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification.
PMID 39635441 | PMCID PMC11614610 | DOI 10.3389/fphar.2024.1498295 · Frontiers in pharmacology · 2024 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “Variants with strong clinical significance included BRAF V600E (2.32%) and KRAS G12D (18.60%).” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification.” | 0.98 | hgnc_dict_v1 |
| gene | KRAS | “Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification.” | 0.98 | hgnc_dict_v1 |
| gene | NRAS | “Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification.” | 0.98 | hgnc_dict_v1 |
Metastatic papillary thyroid carcinoma in pleural effusion: a case report and review of the literature.
PMID 38115146 | PMCID PMC10731747 | DOI 10.1186/s13256-023-04265-6 · Journal of medical case reports · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “The most common mutation found in papillary thyroid carcinoma cases is the V600E mutation found in the BRAF gene, yet these patients have a relatively low probability of cancer recurrence.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “The most common mutation found in papillary thyroid carcinoma cases is the V600E mutation found in the BRAF gene, yet these patients have a relatively low probability of cancer recurrence.” | 0.98 | hgnc_dict_v1 |
| phenotype | thyroid cancer | “Metastatic papillary thyroid carcinoma in pleural effusion: a case report and review of the literature.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CASE PRESENTATION: Herein, we discuss a Saudi male patient in his early 50s with a history of papillary thyroid carcinoma who presented to the emergency department complaining of shortness of breath and a radiological finding of hydrothorax.” | 0.95 | saudi_context_rules_v1 |
TERT Promoter Mutations Are an Independent Predictor of Distant Metastasis in Middle Eastern Papillary Thyroid Microcarcinoma.
PMID 35360077 | PMCID PMC8962954 | DOI 10.3389/fendo.2022.808298 · Frontiers in endocrinology · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “Molecular analysis showed BRAF V600E mutations to be the most frequent, being detected in 45.7% (84/184).” | 0.82 | literature_variant_regex_v2 |
| gene | TERT | “TERT Promoter Mutations Are an Independent Predictor of Distant Metastasis in Middle Eastern Papillary Thyroid Microcarcinoma.” | 0.98 | hgnc_dict_v1 |
| gene | BRAF | “Clinico-pathological associations for DM, BRAF mutation and TERT mutation were analyzed successfully in 184 patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | thyroid cancer | “BACKGROUND: Papillary thyroid microcarcinomas (PTMCs) have been attributed to the recent increased incidence of thyroid cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
Erdheim-Chester Disease Successfully Treated with Front-Line Single-Agent Dabrafenib.
PMID 35171900 | PMCID PMC8861977 | DOI 10.12659/AJCR.935090 · The American journal of case reports · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “Since approximately 75% of ECD patients harbor a mutation in the proto-oncogene BRAF V600E, inhibition of BRAF activation by BRAF inhibitors has significantly improved the management of ECD.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “Since approximately 75% of ECD patients harbor a mutation in the proto-oncogene BRAF V600E, inhibition of BRAF activation by BRAF inhibitors has significantly improved the management of ECD.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “CASE REPORT We report the case of a 30-year-old Saudi Arabian woman who initially presented with a history of diffuse abdominal pain and fever.” | 0.95 | saudi_context_rules_v1 |
Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.
PMID 27387551 | PMCID PMC4936197 | DOI 10.1186/s12967-016-0958-x · Journal of translational medicine · 2016 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.” | 0.98 | hgnc_dict_v1 |
| phenotype | thyroid cancer | “Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: A total of 204 adult DTC samples (Age >18 years) were analyzed for mutations in exon 15 of the BRAF gene by performing polymerase chain reaction (PCR) amplification of tumor genomic DNAs and direct sequencing of amplicons using Sanger sequencing. CONCLUSIONS: Our study is the first to report BRAF mutations in a pure adult sample of DTCs of Saudi Arabian ethnicity.” | 0.95 | saudi_context_rules_v1 |
A very low incidence of BRAF mutations in Middle Eastern colorectal carcinoma.
PMID 25005754 | PMCID PMC4109832 | DOI 10.1186/1476-4598-13-168 · Molecular cancer · 2014 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “RESULTS: BRAF gene mutations were seen in 2.5% (19/757) CRC analyzed and BRAF V600E somatic mutation constituted 90% (17/19) of all BRAF mutations.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “A very low incidence of BRAF mutations in Middle Eastern colorectal carcinoma.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Earlier studies have reported the incidence of BRAF mutations in the range of 5-20% in colorectal carcinomas (CRC) and are predominantly seen in the serrated adenoma-carcinoma pathway characterized by microsatellite instability (MSI-H) and hypermethylation of the MLH1 gene in the setting of the CpG island methylator phenotype (CIMP).” | 0.98 | hgnc_dict_v1 |
| gene | KRAS | “METHODS: 770 CRC cases were analyzed for BRAF and KRAS mutations by direct DNA sequencing.” | 0.98 | hgnc_dict_v1 |
BRAF analysis on a spectrum of melanocytic neoplasms: an epidemiological study across differing UV regions.
PMID 23782679 | DOI 10.1097/DAD.0b013e318293f355 · The American Journal of dermatopathology · 2014 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “V600E was the predominant mutation type, found in 96.3% of the cases.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “BRAF analysis on a spectrum of melanocytic neoplasms: an epidemiological study across differing UV regions.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Specimens were collected from 4 countries with increasing UVR rates (in kJ/m/yr): Syria (n = 45; UVR = 93.5), Lebanon (n = 225; UVR = 110), Pakistan (n = 122; UVR = 128), and Saudi Arabia (n = 208; UVR = 139). The overall BRAF mutation rate was 49% (268 of 545) and differed significantly by the geographic location [34% Pakistan, 49% Lebanon, 67% Syria, and 54% Saudi Arabia; P = 0.001], neoplasm type (P < 0.001), and anatomical location (P < 0.001) but not with age (P = 0.07) and gender (P = 1.0).” | 0.95 | saudi_context_rules_v1 |
BRAF mutational epidemiology in dysplastic nevi: does different solar UV radiation exposure matter?
PMID 23906414 | DOI 10.1111/jdv.12148 · Journal of the European Academy of Dermatology and Venereology : JEADV · 2014 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “V600E (c.1799T > A) was the predominant mutation, found in 61/63 (96.8%) cases.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “BRAF mutational epidemiology in dysplastic nevi: does different solar UV radiation exposure matter?” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “METHODS: Extended BRAF testing for 9 mutations in 125 dysplastic nevi from 101 patients, derived from populations with differing potential UV radiation exposure rates (Lebanon and Saudi Arabia), was performed. BRAF mutation rate differed significantly by potential UV radiation exposure (Lebanon: 53.4%, Saudi Arabia: 74.4%, P < 0.05). Higher rates of pigment in the stratum corneum were identified in Saudi Arabia (P < 0.05).” | 0.95 | saudi_context_rules_v1 |
Pancreas as delayed site of metastasis from papillary thyroid carcinoma.
PMID 23607002 | PMCID PMC3623391 | DOI 10.1155/2013/386263 · Case reports in gastrointestinal medicine · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “Metastasectomy was performed by pancreaticoduodenectomy followed by sorafenib as genetic testing revealed a BRAF V600E mutation.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “Metastasectomy was performed by pancreaticoduodenectomy followed by sorafenib as genetic testing revealed a BRAF V600E mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | thyroid cancer | “Pancreas as delayed site of metastasis from papillary thyroid carcinoma.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “To date, only 9 cases of PTC have been reported in the literature. Herein we present a 67-year-old Saudi woman, who developed pancreatic metastases seven years after total thyroidectomy and neck dissection followed by radioactive iodine ablation (RAI) for FV-PTC.” | 0.95 | saudi_context_rules_v1 |
Predictors of BRAF mutation in melanocytic nevi: analysis across regions with different UV radiation exposure.
PMID 23051629 | DOI 10.1097/DAD.0b013e31826db181 · The American Journal of dermatopathology · 2013 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V600E | “Overall, BMR was 62.4% (131/210) with V600E mutation accounting for 98.5% of cases.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “Predictors of BRAF mutation in melanocytic nevi: analysis across regions with different UV radiation exposure.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “DESIGN: Extended BRAF testing for 9 mutations in 225 melanocytic nevus (MN) cases derived from 211 patients from 4 different UVR regions: Lebanon (n = 95; 110 kJ · m(-2) · yr), Syria (n = 23; 93.5 kJ · m(-2) · yr), Kingdom of Saudi Arabia (n = 70; 139 kJ · m(-2) · yr), and Pakistan (n = 37; 118 kJ · m(-2) · yr) was performed. BMR differed significantly, yet nonsystematically, among UVR regions; the highest was detected in nevi coming from Syria (18/23 cases, 78%), followed by Pakistan (21/30 cases, 70%), Kingdom of Saudi Arabia (47/70 cases, 67%), and Lebanon (45/87 cases, 52%).” | 0.95 | saudi_context_rules_v1 |