Counselling framework for moderate-penetrance cancer-susceptibility mutations
N Tung, SM Domchek, Z Stadler… - Nature reviews Clinical …, 2016 - nature.com
The use of multigene panels for the assessment of cancer susceptibility is expanding rapidly
in clinical practice, particularly in the USA, despite concerns regarding the uncertain clinical …
in clinical practice, particularly in the USA, despite concerns regarding the uncertain clinical …
Homologous recombination deficiency: cancer predispositions and treatment implications
MR Toh, J Ngeow - The oncologist, 2021 - academic.oup.com
Homologous recombination (HR) is a highly accurate DNA repair mechanism. Several HR
genes are established cancer susceptibility genes with clinically actionable pathogenic …
genes are established cancer susceptibility genes with clinically actionable pathogenic …
Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome
NJ Samadder, D Riegert-Johnson, L Boardman… - JAMA …, 2021 - jamanetwork.com
Importance Hereditary factors play a key role in the risk of developing several cancers.
Identification of a germline predisposition can have important implications for treatment …
Identification of a germline predisposition can have important implications for treatment …
[HTML][HTML] Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients
AW Kurian, KC Ward, N Howlader… - Journal of Clinical …, 2019 - ncbi.nlm.nih.gov
PURPOSE Genetic testing for cancer risk has expanded rapidly. We examined clinical
genetic testing and results among population-based patients with breast and ovarian …
genetic testing and results among population-based patients with breast and ovarian …
[HTML][HTML] Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer
Purpose Testing for germline mutations in BRCA1/2 is standard for select patients with
breast cancer to guide clinical management. Next-generation sequencing (NGS) allows …
breast cancer to guide clinical management. Next-generation sequencing (NGS) allows …
A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes
SS Buys, JF Sandbach, A Gammon, G Patel, J Kidd… - Cancer, 2017 - Wiley Online Library
BACKGROUND As panel testing becomes more common in clinical practice, it is important
to understand the prevalence and trends associated with the pathogenic variants (PVs) …
to understand the prevalence and trends associated with the pathogenic variants (PVs) …
Cancer Risks for PMS2-Associated Lynch Syndrome
SW Ten Broeke, HM van der Klift, CMJ Tops… - Journal of Clinical …, 2018 - ascopubs.org
Purpose Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes
MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial …
MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial …
[HTML][HTML] Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer
AW Kurian, Y Li, AS Hamilton, KC Ward… - Journal of Clinical …, 2017 - ncbi.nlm.nih.gov
Purpose Genetic testing for breast cancer risk is evolving rapidly, with growing use of
multiple-gene panels that can yield uncertain results. However, little is known about the …
multiple-gene panels that can yield uncertain results. However, little is known about the …
[HTML][HTML] Time trends in receipt of germline genetic testing and results for women diagnosed with breast cancer or ovarian cancer, 2012-2019
AW Kurian, KC Ward, P Abrahamse… - Journal of Clinical …, 2021 - ncbi.nlm.nih.gov
PURPOSE Genetic testing is important for breast and ovarian cancer risk reduction and
treatment, yet little is known about its evolving use. METHODS SEER records of women of …
treatment, yet little is known about its evolving use. METHODS SEER records of women of …
Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients
J Sun, H Meng, LU Yao, M Lv, J Bai, J Zhang… - Clinical Cancer …, 2017 - AACR
Purpose: The prevalence of mutations in cancer susceptibility genes such as BRCA1 and
BRCA2 and other cancer susceptibility genes and their clinical relevance are largely …
BRCA2 and other cancer susceptibility genes and their clinical relevance are largely …