Articles with "germline testing" as a keyword



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Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2‐visit consent model

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Published in 2019 at "Cancer"

DOI: 10.1002/cncr.32071

Abstract: Patients with cancer are increasingly offered genomic sequencing, including germline testing for cancer predisposition or other disorders. Such testing is unfamiliar to patients and families, and clear communication is needed to introduce genomic concepts and… read more here.

Keywords: testing cancer; germline testing; speaking genomics; cancer predisposition ... See more keywords

Patterns of germline and somatic testing after universal tumor screening for Lynch syndrome: A clinical practice survey of active members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.

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Published in 2022 at "Journal of genetic counseling"

DOI: 10.1002/jgc4.1567

Abstract: Clinical guidelines recommend universal tumor screening (UTS) of colorectal and endometrial cancers for Lynch syndrome (LS). There are limited guidelines for how to integrate germline testing and somatic tumor testing after a mismatch repair deficient… read more here.

Keywords: tumor; cancer; survey; germline testing ... See more keywords

Reply to Dr. Witjes regarding universal tumor genomic sequencing as a prescreen for germline genetic testing in patients diagnosed with ovarian cancer

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Published in 2021 at "Gynecologic Oncology Reports"

DOI: 10.1016/j.gore.2021.100843

Abstract: We would like to thank Dr. Witjes and her colleagues for their interest in our paper and for taking the time to elaborate on the promises of universal tumor genomic sequencing as a prescreen for… read more here.

Keywords: tumor; genetic testing; germline testing; tumor genomic ... See more keywords

Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men

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Published in 2025 at "Nature Communications"

DOI: 10.1038/s41467-025-57312-9

Abstract: Prostate cancer (PCa) is highly heritable, with men of African ancestry at greatest risk and associated lethality. Lack of representation in genomic data means germline testing guidelines exclude for Africans. Established that structural variations (SVs)… read more here.

Keywords: structural variants; germline testing; prostate cancer; prostate ... See more keywords

Testing Patterns and Prevalence of gBRCA Mutations among Women with Breast Cancer: A Cross-Sectional Observational Study

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Published in 2025 at "Indian Journal of Medical and Paediatric Oncology"

DOI: 10.1055/s-0045-1802559

Abstract: Abstract Introduction Pathogenic germline mutations in BRCA ( gBRCAm ) genes can heighten the risk of breast cancer (BC) among carriers. Economic constraints and patient testing hesitancy challenge adherence to hereditary germline testing guidelines. As… read more here.

Keywords: cancer; history; among women; germline testing ... See more keywords
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Present status of germline findings in precision medicine for Japanese cancer patients: issues in the current system.

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Published in 2022 at "Japanese journal of clinical oncology"

DOI: 10.1093/jjco/hyac046

Abstract: OBJECTIVE Since 2019, precision cancer medicine has been covered by national insurance in Japan; however, to date, germline findings have not been fully reported. The aim of this study was to evaluate the current status… read more here.

Keywords: medicine; cancer; germline findings; germline testing ... See more keywords

Compliance with the Current NCCN Guidelines and Its Critical Role in Pancreatic Adenocarcinoma.

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Published in 2022 at "Laboratory medicine"

DOI: 10.1093/labmed/lmac046

Abstract: OBJECTIVES Since 2019, the National Comprehensive Cancer Network (NCCN) has recommended genetic testing for patients diagnosed with pancreatic adenocarcinoma that includes universal germline testing and tumor gene profiling for metastatic, locally advanced, or recurrent disease.… read more here.

Keywords: tumor gene; germline testing; compliance; nccn guidelines ... See more keywords

Abstract 621: Germline testing in African American women with invasive breast cancer

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Published in 2019 at "Epidemiology"

DOI: 10.1158/1538-7445.am2019-621

Abstract: Background: Although African ancestry is not included in the NCCN guidelines for identifying women with invasive breast cancer who may benefit from genetic testing, African American women (AAW) are at increased risk of being diagnosed… read more here.

Keywords: germline testing; genetic testing; cancer; breast cancer ... See more keywords

Abstract ES6-1: Who should have germline testing for hereditary breast cancer?

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Published in 2020 at "Cancer Research"

DOI: 10.1158/1538-7445.sabcs19-es6-1

Abstract: Who should have germline testing for hereditary breast cancer? Several guidelines exist for who should be offered germline testing for mutations in breast and ovarian cancer susceptibility genes. NCCN guidelines currently recommend germline BRCA testing… read more here.

Keywords: breast cancer; germline testing; brca; cancer ... See more keywords

Germline Testing identifies Pathogenic/Likely Pathogenic Variants in Patients with Pancreatic Neuroendocrine Tumors.

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Published in 2024 at "Cancer prevention research"

DOI: 10.1158/1940-6207.capr-23-0483

Abstract: 10% of pancreatic neuroendocrine tumors (pNETs) are related to inherited syndromes (MEN1, MEN4, VHL, NF1, TSC). Growing evidence suggests that clinically sporadic pNETs can also harbor germline pathogenic variants. In this study, we report the… read more here.

Keywords: cohort; germline; pancreatic neuroendocrine; high risk ... See more keywords

Next-generation sequencing (NGS) of DNA isolated from nail specimens and run in parallel with tumor NGS accurately and efficiently detects germline predisposition variants in myeloid malignancies

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Published in 2025 at "Blood"

DOI: 10.1182/blood-2025-1084

Abstract: Background: Germline predisposition occurs in patients of all ages with myeloid malignancies and is important to identify due to implications for family members and donor selection for stem cell transplant. The gold standard method of… read more here.

Keywords: germline; history; nail specimens; germline testing ... See more keywords