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Germline predisposition
PubMed★ Top pick
⭐ À la une
Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.
Germline cancer predisposition in poor-prognosis pediatric cancers
9
/10
Germline predispositionMainstreaming
Clinical Cancer Research 2026· MayRead
TP53
Autosomique dominantPubMed★ Top pick
Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
Li-Fraumeni syndrome (LFS) — TP53 hereditary multi-cancer predisposition
9
/10
Li-Fraumeni / TP53New recommendationDonnées de pénétrance
Am J Hum Genet 2026· MayRead
BRCA2
Autosomique dominantPubMed★ Top pick
Measuring disease likelihood in genomic ascertainment.
Secondary findings in genome sequencing — BRCA1/BRCA2: likelihood of genuine clinical diagnosis
9
/10
VUS reclassifiedMainstreaming
Am J Hum Genet 2026· MayRead
ACVRL1
Autosomique dominantPubMed★ Top pick
Characteristics associated with clinical response to pomalidomide in hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia (HHT) — recurrent epistaxis and gastrointestinal bleeding linked to ENG or ACVRL1
9
/10
PARP inhibitorDonnées de pénétrance
Blood Advances 2026· MayRead
ATM
ADPubMed★ Top pick
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework
Hereditary predisposition to breast and pancreatic cancer (moderate penetrance)
9
/10
Breast cancerVUS reclassifiedFunctional validation
Clinical Cancer Research, 2025· JunRead
MLH1
Autosomique dominant (épimutation secondaire)PubMedClinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis.
Lynch syndrome due to constitutional MLH1 promoter hypermethylation
8
/10
Lynch syndromeRecurrent variantLong-read sequencing
Genetics in Medicine 2026· MayRead
WT1, TRIM28
PubMedGenetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.
Germline predisposition to Wilms tumor
8
/10
Germline predispositionRecurrent variant
International Journal of Molecular Sciences 2026· MayRead
BRCA1
Autosomique dominantPubMed⭐ À la une
Two decades of PARP inhibitor synthetic lethality in cancer.
BRCA1/BRCA2 hereditary breast, ovarian, prostate, and pancreatic cancer predisposition — PARP inhibitors as germline therapeutic biomarker
8
/10
PARP inhibitorNew recommendation
Nature 2026· MayRead
BRCA1/2
Autosomique dominantPubMedUltra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.
Early-onset breast cancer — ultra-rare germline variants in predisposition genes and pathways
8
/10
Breast cancerRecurrent variantDonnées de pénétrance
Am J Hum Genet 2026· MayRead
CDH1
Autosomique dominantPubMedMolecular characteristics and clinical outcomes of patients with gastroesophageal cancer diagnosed at ages younger than 50 years.
Early-onset gastroesophageal cancer (<50 years) — enrichment in germline CDH1 and TP53 variants
8
/10
Gastric cancerRecurrent variantDonnées de pénétrance
JNCI Cancer Spectr 2026· MayRead
BRCA1
ADPubMedAssociation between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer
Hereditary breast cancer (HBOC) in young patients (≤40 years)
8
/10
Breast cancerDonnées de pénétrance
Annals of Oncology, 2026· MarRead
CTNNA1
ADPubMedHereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular comprehensive analysis
Hereditary diffuse gastric cancer (HDGC) spectrum — CTNNA1-related
8
/10
Gastric cancerNew geneDonnées de pénétrance
Gut, 2026· AprRead
WGS Diagnostic Yield
PubMedGenome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Clinical Impact
Hereditary cancer predispositions — undiagnosed after WES
8
/10
New recommendation
JCO Precision Oncology, 2026· AprRead
BRCA2, ATM
PubMedGermline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey.
Pancreatic adenocarcinoma with germline predisposition
7
/10
Mainstreaming
Cancer 2026· MayRead
BRCA1, BRCA2, PALB2
Autosomique dominantPubMedGermline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia.
Hereditary early-onset breast cancer (Ethiopia)
7
/10
Breast cancerRecurrent variant
JCO Global Oncology 2026· MayRead
MSH2
Autosomique dominantPubMedWGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.
Lynch syndrome — hereditary colorectal and associated cancer predisposition linked to MMR genes
7
/10
Lynch syndromeRecurrent variantMainstreaming
PLoS ONE 2026· JanRead
BRCA2
Autosomique dominantPubMedUptake of cascade tests in relatives of patients undergoing cancer precision medicine in Japan.
Germline variants identified through cancer precision medicine — cascade testing of relatives (BRCA1/2, ATM, MSH2, APC, BAP1, CDK4, CDKN2A, RAD51C)
7
/10
MainstreamingRecurrent variant
Jpn J Clin Oncol 2026· MayRead
BRCA1
ADPubMedSurvival Outcomes With or Without Risk-Reducing Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers
HBOC — Hereditary breast cancer (primary prevention)
7
/10
Breast cancerProphylactic surgery
Journal of Clinical Oncology, 2026· AprRead
BRCA2
ADPubMedSurgical Outcomes After Risk-Reducing Mastectomy Among BRCA1 and BRCA2 Carriers
HBOC — surgical safety data for risk-reducing mastectomy
7
/10
Breast cancerProphylactic surgery
JAMA Network Open, 2026· AprRead
BRCA1
ADPubMedBreast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations
Hereditary breast cancer — definition of the mainstream oncology testing panel
7
/10
Germline predispositionNew recommendationMainstreaming
Annals of Oncology, 2025· AugRead
BRCA2
ADPubMedNeoadjuvant PARP inhibitor scheduling in BRCA1 and BRCA2 related breast cancer: PARTNER, a randomized phase II/III trial
gBRCA1/2 breast cancer, early stage (triple negative or luminal)
7
/10
Breast cancerPARP inhibitor
Nature Communications, 2025· MayRead
TP53
ADPubMedEuropean Colonial Echoes in Cancer Risk: Lessons from the TP53 p.R337H Founder Variant in Brazil
Li-Fraumeni syndrome (attenuated) — pan-cancer predisposition
7
/10
Li-Fraumeni / TP53Recurrent variantDonnées de pénétrance
Cancer Epidemiology, Biomarkers & Prevention, 2026· FebRead
MLH1
ADPubMedGene-specific cancer risks in female Lynch syndrome carriers: A copula-based meta-analysis
Lynch syndrome — gene-specific cancer risks in female carriers
7
/10
Lynch syndromeDonnées de pénétrance
Maturitas, 2026· MarRead
BRCA1
ADPubMedACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-initiated, third-party-facilitated family cascade testing
Hereditary cancer predisposition — cascade testing implementation
7
/10
Mainstreaming
Gynecologic Oncology, 2026· AprRead
MSH2, BRCA1
medRxivDiverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.
Unexplained familial cancers without known pathogenic variant
6
/10
Lynch syndromeNew geneLong-read sequencing
medRxiv 2026· MayRead
ATRIP
Autosomique dominantPubMedGermline ATRIP variants and the risk of ovarian cancer.
ATRIP-related ovarian cancer predisposition
6
/10
Breast cancerNew geneDonnées de pénétrance
Genetics in Medicine 2026· AprRead
BRCA2
Autosomique dominantbioRxivDecoding the BRCA2 reversion principles underlying PARP inhibitor resistance.
Germline BRCA2 cancer — PARP inhibitor resistance mechanisms through reversion mutations
6
/10
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
Lynch
Autosomique dominantJournalLynch syndrome integrative epidemiology and genetics (LINEAGE): rationale for cohort design.
Lynch syndrome — integrative epidemiological cohort (genetics, environment, penetrance)
6
/10
Lynch syndromeDonnées de pénétranceMainstreaming
Familial Cancer 2026· MayRead
BRCA1
ADPubMedPrevalence of BRCA1 and BRCA2 Variants in an Unselected Population of Women With Breast Cancer
Breast cancer — prevalence and ethnic disparities of BRCA1/2 variants
6
/10
Mainstreaming
JAMA Network Open, 2025· SepRead
EPAS1
PubMedExpanding the clinical tumor phenotype of the EPAS1-associated tumor syndrome.
EPAS1/HIF2α-associated tumor syndrome (Pacak-Zhuang syndrome)
5
/10
Phenotypic expansion
Journal of Clinical Endocrinology and Metabolism 2026· MayRead
BRCA1
Autosomique dominantbioRxivEpithelial mesenchymal transition initiates precancer states in BRCA1 mutation carriers.
BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition
5
/10
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
Week of 20 May 2026
8 articles
PubMed
★ Top pick
⭐ À la une
Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.
Germline cancer predisposition in poor-prognosis pediatric cancers
9
/10
Mainstreaming
Clinical Cancer Research 2026· MayRead
MLH1
Autosomique dominant (épimutation secondaire)PubMedClinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis.
Lynch syndrome due to constitutional MLH1 promoter hypermethylation
8
/10
Recurrent variantLong-read sequencing
Genetics in Medicine 2026· MayRead
WT1, TRIM28
PubMedGenetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.
Germline predisposition to Wilms tumor
8
/10
Recurrent variant
International Journal of Molecular Sciences 2026· MayRead
BRCA2, ATM
PubMedGermline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey.
Pancreatic adenocarcinoma with germline predisposition
7
/10
Mainstreaming
Cancer 2026· MayRead
EPAS1
PubMedExpanding the clinical tumor phenotype of the EPAS1-associated tumor syndrome.
EPAS1/HIF2α-associated tumor syndrome (Pacak-Zhuang syndrome)
5
/10
Phenotypic expansion
Journal of Clinical Endocrinology and Metabolism 2026· MayRead
BRCA1, BRCA2, PALB2
Autosomique dominantPubMedGermline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia.
Hereditary early-onset breast cancer (Ethiopia)
7
/10
Recurrent variant
JCO Global Oncology 2026· MayRead
MSH2, BRCA1
medRxivDiverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.
Unexplained familial cancers without known pathogenic variant
6
/10
New geneLong-read sequencing
medRxiv 2026· MayRead
ATRIP
Autosomique dominantPubMedGermline ATRIP variants and the risk of ovarian cancer.
ATRIP-related ovarian cancer predisposition
6
/10
New geneDonnées de pénétrance
Genetics in Medicine 2026· AprRead
Week of 13 May 2026
11 articles
BRCA1
Autosomique dominantPubMed⭐ À la une
Two decades of PARP inhibitor synthetic lethality in cancer.
BRCA1/BRCA2 hereditary breast, ovarian, prostate, and pancreatic cancer predisposition — PARP inhibitors as germline therapeutic biomarker
8
/10
PARP inhibitorNew recommendation
Nature 2026· MayRead
TP53
Autosomique dominantPubMed★ Top pick
Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
Li-Fraumeni syndrome (LFS) — TP53 hereditary multi-cancer predisposition
9
/10
New recommendationDonnées de pénétrance
Am J Hum Genet 2026· MayRead
BRCA2
Autosomique dominantPubMed★ Top pick
Measuring disease likelihood in genomic ascertainment.
Secondary findings in genome sequencing — BRCA1/BRCA2: likelihood of genuine clinical diagnosis
9
/10
VUS reclassifiedMainstreaming
Am J Hum Genet 2026· MayRead
BRCA1/2
Autosomique dominantPubMedUltra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.
Early-onset breast cancer — ultra-rare germline variants in predisposition genes and pathways
8
/10
Recurrent variantDonnées de pénétrance
Am J Hum Genet 2026· MayRead
ACVRL1
Autosomique dominantPubMed★ Top pick
Characteristics associated with clinical response to pomalidomide in hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia (HHT) — recurrent epistaxis and gastrointestinal bleeding linked to ENG or ACVRL1
9
/10
PARP inhibitorDonnées de pénétrance
Blood Advances 2026· MayRead
MSH2
Autosomique dominantPubMedWGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.
Lynch syndrome — hereditary colorectal and associated cancer predisposition linked to MMR genes
7
/10
Recurrent variantMainstreaming
PLoS ONE 2026· JanRead
CDH1
Autosomique dominantPubMedMolecular characteristics and clinical outcomes of patients with gastroesophageal cancer diagnosed at ages younger than 50 years.
Early-onset gastroesophageal cancer (<50 years) — enrichment in germline CDH1 and TP53 variants
8
/10
Recurrent variantDonnées de pénétrance
JNCI Cancer Spectr 2026· MayRead
BRCA2
Autosomique dominantPubMedUptake of cascade tests in relatives of patients undergoing cancer precision medicine in Japan.
Germline variants identified through cancer precision medicine — cascade testing of relatives (BRCA1/2, ATM, MSH2, APC, BAP1, CDK4, CDKN2A, RAD51C)
7
/10
MainstreamingRecurrent variant
Jpn J Clin Oncol 2026· MayRead
BRCA2
Autosomique dominantbioRxivDecoding the BRCA2 reversion principles underlying PARP inhibitor resistance.
Germline BRCA2 cancer — PARP inhibitor resistance mechanisms through reversion mutations
6
/10
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
BRCA1
Autosomique dominantbioRxivEpithelial mesenchymal transition initiates precancer states in BRCA1 mutation carriers.
BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition
5
/10
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
Lynch
Autosomique dominantJournalLynch syndrome integrative epidemiology and genetics (LINEAGE): rationale for cohort design.
Lynch syndrome — integrative epidemiological cohort (genetics, environment, penetrance)
6
/10
Données de pénétranceMainstreaming
Familial Cancer 2026· MayRead
Week of 6 May 2026
12 articles
ATM
ADPubMed★ Top pick
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework
Hereditary predisposition to breast and pancreatic cancer (moderate penetrance)
9
/10
VUS reclassifiedFunctional validation
Clinical Cancer Research, 2025· JunRead
BRCA1
ADPubMedAssociation between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer
Hereditary breast cancer (HBOC) in young patients (≤40 years)
8
/10
Données de pénétrance
Annals of Oncology, 2026· MarRead
BRCA1
ADPubMedSurvival Outcomes With or Without Risk-Reducing Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers
HBOC — Hereditary breast cancer (primary prevention)
7
/10
Prophylactic surgery
Journal of Clinical Oncology, 2026· AprRead
BRCA2
ADPubMedSurgical Outcomes After Risk-Reducing Mastectomy Among BRCA1 and BRCA2 Carriers
HBOC — surgical safety data for risk-reducing mastectomy
7
/10
Prophylactic surgery
JAMA Network Open, 2026· AprRead
BRCA1
ADPubMedBreast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations
Hereditary breast cancer — definition of the mainstream oncology testing panel
7
/10
New recommendationMainstreaming
Annals of Oncology, 2025· AugRead
BRCA2
ADPubMedNeoadjuvant PARP inhibitor scheduling in BRCA1 and BRCA2 related breast cancer: PARTNER, a randomized phase II/III trial
gBRCA1/2 breast cancer, early stage (triple negative or luminal)
7
/10
PARP inhibitor
Nature Communications, 2025· MayRead
CTNNA1
ADPubMedHereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular comprehensive analysis
Hereditary diffuse gastric cancer (HDGC) spectrum — CTNNA1-related
8
/10
New geneDonnées de pénétrance
Gut, 2026· AprRead
WGS Diagnostic Yield
PubMedGenome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Clinical Impact
Hereditary cancer predispositions — undiagnosed after WES
8
/10
New recommendation
JCO Precision Oncology, 2026· AprRead
TP53
ADPubMedEuropean Colonial Echoes in Cancer Risk: Lessons from the TP53 p.R337H Founder Variant in Brazil
Li-Fraumeni syndrome (attenuated) — pan-cancer predisposition
7
/10
Recurrent variantDonnées de pénétrance
Cancer Epidemiology, Biomarkers & Prevention, 2026· FebRead
MLH1
ADPubMedGene-specific cancer risks in female Lynch syndrome carriers: A copula-based meta-analysis
Lynch syndrome — gene-specific cancer risks in female carriers
7
/10
Données de pénétrance
Maturitas, 2026· MarRead
BRCA1
ADPubMedACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-initiated, third-party-facilitated family cascade testing
Hereditary cancer predisposition — cascade testing implementation
7
/10
Mainstreaming
Gynecologic Oncology, 2026· AprRead
BRCA1
ADPubMedPrevalence of BRCA1 and BRCA2 Variants in an Unselected Population of Women With Breast Cancer
Breast cancer — prevalence and ethnic disparities of BRCA1/2 variants
6
/10
Mainstreaming
JAMA Network Open, 2025· SepRead