#HereditaryCancer
Pathogenic variants in RAD51D, a tumour suppressor gene essential for homologous recombination, are associated with breast and ovarian cancers, yet most clinical missense variants remain of uncertain significance.

#genomics #HereditaryCancer #ClinicalGenetics
Saturation mutagenesis enables RAD51D clinical variant interpretation and identifies distinct biochemical functions
Breast and ovarian cancer predisposition (RAD51D) · Nat Commun 2026
www.genox-veille.fr
November 5, 2026 at 1:00 PM
This systematic review, conducted according to PRISMA methodology in PubMed-Medline and Embase, assessed the economic value of germline hereditary cancer testing in articles published between January 2013 and December 2024.

#genomics #HereditaryCancer #ClinicalGenetics
The Economic Value of Hereditary Cancer Testing: A Systematic Review.
Hereditary cancer predisposition: health economic evaluation · Genet Med 2026
www.genox-veille.fr
November 1, 2026 at 7:54 PM
eREACH2 is a randomised four-arm non-inferiority trial in which pre-test genetic counselling (visit 1) and/or return of results (visit 2) was replaced by a patient-centred digital intervention, in people with and without cancer who met criteria for her…

#genomics #HereditaryCancer #ClinicalGenetics
A Randomized Non-Inferiority Trial of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (
Hereditary cancer predisposition: genetic counselling · medRxiv 2026
www.genox-veille.fr
October 30, 2026 at 1:01 PM
This study analysed 1,514 patients with MDS who underwent allogeneic transplantation before routine DDX41 testing, alongside a wild-type comparator.

#genomics #HereditaryCancer #ClinicalGenetics
Germline DDX41 defines a distinct subgroup in MDS undergoing transplantation with reduced relapse and improved survival.
Myelodysplastic neoplasms (MDS) with a germline DDX41 variant · Blood 2026
www.genox-veille.fr
October 26, 2026 at 1:00 PM
DICER1-related tumor predisposition is an autosomal dominant disorder predisposing to a broad spectrum of malignant and benign neoplasms.

#genomics #HereditaryCancer #ClinicalGenetics
Refining neoplasm risk in DICER1-related tumor predisposition.
DICER1-related tumor predisposition: tumor spectrum and neoplasm risk · Eur J Cancer 2026
www.genox-veille.fr
October 20, 2026 at 1:01 PM
Widespread germline genetic testing has led to a marked increase in the detection of variants of uncertain significance in BRCA1 and BRCA2.

#genomics #HereditaryCancer #ClinicalGenetics
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain si
Hereditary breast and ovarian cancer predisposition (BRCA1/BRCA2): classification of missense variants of uncertain significance · Am J Hum Genet 2026
www.genox-veille.fr
October 15, 2026 at 1:00 PM
🎗️ Breast Cancer Awareness Day is a reminder of the importance of early detection, research and understanding our individual risk.
🧬 Learn how Genome BC is supporting research in this area: https://ow.ly/OwyF50ZW73x
#BreastCancerAwareness #HereditaryCancer #Genomics #PersonalizedMedicine
October 13, 2026 at 4:00 PM
SDH gene variant types differentially influence the risk of thoracic-abdominal paraganglioma-pheochromocytoma (PPGL) and head and neck paraganglioma (HNPGL), but quantitative correlations were lacking.

#genomics #HereditaryCancer #ClinicalGenetics
Succinate dehydrogenase (SDHB, SDHC, SDHD) gene variants significantly modify clinical outcomes in paraganglioma-pheochr
Hereditary paraganglioma and pheochromocytoma linked to SDH genes: genotype-phenotype correlations · Genet Med 2026
www.genox-veille.fr
October 13, 2026 at 1:00 PM
🥼🧬 Heading to #JADPROLive?

Join members of @jax.org Clinical Education and the Maine Cancer Genomics Initiative for an interactive session on using biomarkers to guide germline testing decisions.

Learn practical approaches to using biomarkers in #HereditaryCancer risk assessment. See you there! 👇
October 13, 2026 at 12:30 PM
Few at-risk relatives complete cascade genetic testing despite its potential public health impact.

#genomics #HereditaryCancer #ClinicalGenetics
Facilitated Cascade Genetic Testing for Relatives of Individuals With BRCA1/2 Pathogenic Variants: A Randomized Controll
Germline BRCA1 and BRCA2 pathogenic variants: cascade genetic testing in first-degree relatives · J Clin Oncol 2026
www.genox-veille.fr
October 11, 2026 at 1:11 PM
Five facts explain why male #breastcancer happens and what changes its outcome. They involve where the first sign shows up, how the disease runs in families, what raises risk and why treatment still borrows from research on women.

#nenshealth #bcsm #hereditarycancer #BRCA
Male breast cancer questions every man should ask early
Male breast cancer affects about 2,800 US men a year. Five facts on hidden symptoms, BRCA2 genetics, risk factors and treatments could change when men act.
rollingout.com
October 5, 2026 at 3:56 AM
Same risk, different access to genetic testing.

📢 A survey across 21 ERN GENTURIS countries shows marked variation in germline testing for #HereditaryCancer 🧬
✨ Harmonised standards and clinical pathways are needed to improve equitable access to genetic diagnostics.

www.nature.com/articles/s41...
Hereditary cancer: Germline testing practices across ERN GENTURIS member countries - European Journal of Human Genetics
European Journal of Human Genetics - Hereditary cancer: Germline testing practices across ERN GENTURIS member countries
www.nature.com
October 2, 2026 at 8:45 AM
It’s national “previvor” day.

DM me to get the link to the post! And follow @facingourrisk @basserbrca @theprevivor for more information. #BRCA1 #hereditarycancer #cancer #previvor
September 30, 2026 at 3:05 PM
Coming from a family of sisters, I very much enjoyed telling the story of these 2 #badass sisters, both diagnosed w/a #BRCA2 mutation that drove their early-stage #breastcancer.
#Hereditarycancer happens, but u can manage yr risk! More info in my @fredhutch.org story. #CanSky #HCAW #knowyourrisk
When both cancer and courage run in the family
Genetic testing for a cancer risk gene can literally be a lifesaver, helping more and more men, women and children sidestep diagnosis and disease by turning to preventive measures like surgeries, medi...
www.fredhutch.org
September 29, 2026 at 3:08 PM
Telegenetics can help close gaps in cancer genetic care: nearly 90% of local providers joined a collaborative model, highlighting its potential to expand access nationwide. #GIMO #PrimaryCare #Telehealth #HereditaryCancer #GermlineTesting #GeneticTesting
September 29, 2026 at 12:21 AM
Let’s talk about hereditary cancer! Writing about my experience with #brca1 over on Substack today — and I included to a of informative links for you to learn more! —Message me for the link or find it in the replies! #cancer #hereditarycancer
September 28, 2026 at 3:04 AM
📢 A review from the special issue of #EJHG on tumour mutational analysis in #HereditaryCancer: diagnostic, interpretative and therapeutic implications. 🧬

🔗 Read more: www.nature.com/articles/s41...
Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care - European Journal of Human Genetics
European Journal of Human Genetics - Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
www.nature.com
September 21, 2026 at 8:12 AM
Context matters. Phone-based #patientnavigation did not improve genetic service use beyond usual care in a setting with established universal tumor screening—but may still help in lower-access settings. bit.ly/4h97DAQ #CRC #hereditarycancer #genetictesting
September 18, 2026 at 8:18 PM
This study included females surviving at least 5 years after a childhood cancer diagnosis, from the Childhood Cancer Survivor Study and the St.

#genomics #HereditaryCancer #ClinicalGenetics
Integrating genetic predictors into subsequent breast cancer risk prediction in survivors of childhood cancer.
Subsequent breast cancer in childhood cancer survivors · J Natl Cancer Inst 2026
www.genox-veille.fr
September 18, 2026 at 1:00 PM
MSH3 and MLH3 are non-canonical mismatch repair genes that correct insertion-deletion errors. The study analysed about 12,000 colorectal cancer or multiple polyp cases and 460,000 controls, with tumour genome sequencing in 2,023 patients.

#genomics #HereditaryCancer #ClinicalGenetics
Heterozygous germline mutations in MSH3, and probably MLH3, act as classical tumour suppressors, leading to excess somat
Colorectal cancer and multiple polyposis · Gut 2026
www.genox-veille.fr
September 16, 2026 at 1:00 PM
KEYLYNK-001 is a randomised, double-blind phase 3 trial conducted at 224 centres in 22 countries in patients with stage III-IV epithelial ovarian, primary peritoneal or fallopian tube cancer without a BRCA mutation.

#genomics #HereditaryCancer #ClinicalGenetics
Chemotherapy with or without pembrolizumab followed by maintenance pembrolizumab with or without olaparib as first-line
Advanced BRCA non-mutated epithelial ovarian cancer · Lancet Oncol 2026
www.genox-veille.fr
September 13, 2026 at 1:00 PM
Social media personality Alix Earle has publicly shared her recent journey with genetic counseling and testing.

Read more about her story here: hubs.li/Q04wQ5n30

#GeneticTesting #GeneticCounseling #BRCA #HereditaryCancer #PrecisionMedicine #EarleMeetsWorld
September 11, 2026 at 3:26 PM
🔬 Among at-risk relatives in families with #HereditaryCancer, a bilingual navigator-supported digital intervention was associated with greater cascade #GeneticTesting completion, informed decision-making, and readiness to pursue testing. ja.ma/4656ANh
A Multilevel Intervention to Identify Individuals for Genetic Testing and Treatment
This pilot randomized clinical trial assesses a bilingual navigator- and web platform–based intervention designed to reduce informational, logistical, and psychosocial barriers to cascade genetic testing in families with hereditary breast and ovarian cancer syndrome or Lynch syndrome among medically...
ja.ma
September 9, 2026 at 12:00 PM
The ENIGMA consortium characterised the splicing profile of 166 BRCA1 exon 18 variants using minigene assays, with 32 additionally analysed in blood-derived RNA from 51 individuals and 18 in mouse embryonic stem cell assays to assess homology-directed…

#genomics #HereditaryCancer #ClinicalGenetics
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
Hereditary breast and ovarian cancer · Am J Hum Genet 2026
www.genox-veille.fr
September 2, 2026 at 6:16 PM