Full archive
102 articles across 9 weeks of watch.
Week of 30 June 2026
12 articlesBRCA1 - Hereditary ovarian cancer — *BRCA1/2* variant classification
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Week of 23 June 2026
9 articlesMMR-deficient colorectal cancer — neoadjuvant immunotherapy
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Week of 16 June 2026
10 articlesTP53 - Li-Fraumeni syndrome / hypomorphic TP53 variants
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Week of 10 June 2026
16 articlesHereditary neuroendocrine neoplasms (NEN) — prevalence and clinical implications of germline variants
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Week of 3 June 2026
11 articlesCEBPA - Familial acute myeloid leukaemia with germline CEBPA variants
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Week of 27 May 2026
13 articlesBRCA2 - Hereditary breast and ovarian cancer (HBOC)
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Week of 20 May 2026
8 articlesGermline cancer predisposition in poor-prognosis pediatric cancers
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Week of 13 May 2026
11 articlesBRCA1 - BRCA1/BRCA2 hereditary breast, ovarian, prostate, and pancreatic cancer predisposition — PARP inhibitors as germline therapeutic biomarker
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Week of 6 May 2026
12 articlesATM - Hereditary predisposition to breast and pancreatic cancer (moderate penetrance)
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TP53
Autosomal dominantPubMed★ Top pick
The biology of hypomorphic TP53 variants and implications for clinical management.
Li-Fraumeni syndrome / hypomorphic TP53 variants
0
Li-Fraumeni / TP53VUS reclassifiedNew recommendation
Clin Cancer Res 2026· JunRead
BRCA1
Autosomal dominantPubMed★ Top pick
Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
Hereditary ovarian cancer — *BRCA1/2* variant classification
0
VUS reclassifiedPenetrance update
Am J Hum Genet 2026· JunRead
BRCA1
Autosomal dominantPubMed★ Top pick
Targeting homologous recombination deficiency with intensified chemotherapy versus standard chemotherapy followed by olaparib in stage III breast cancer (SUBITO): an open-label, randomised, controlled, phase 3 trial
Stage III HER2-negative breast cancer with HRD / germline *BRCA1/2* mutation
0
Breast cancerPARP inhibitorNew recommendation
Lancet Oncol 2026· JulRead
BRCA1
PubMed★ Top pick
Constitutional BRCA1 promoter methylation as a biomarker for ovarian cancer risk.
Hereditary ovarian cancer / constitutional BRCA1 epimutation
0
New mechanism
JCO Precis Oncol 2026· JunRead
Hereditary neuroendocrine neoplasms (NEN) — prevalence and clinical implications of germline variants
Autosomal dominantPubMed★ Top pick
Germline Cancer Testing in Unselected Patients With Neuroendocrine Neoplasms: A Prospective Multicenter Study
Hereditary neuroendocrine neoplasms (NEN) — prevalence and clinical implications of germline variants
0
MainstreamingPenetrance update
Pancreas 2026· JunRead
BRCA1
Autosomal dominantPubMed★ Top pick
Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers: a meta-analysis
Contralateral breast cancer in BRCA1/2, PALB2, CHEK2, ATM pathogenic variant carriers
0
Breast cancerPenetrance updateProphylactic surgery
BJC Rep 2026· JunRead
Lynch syndrome
Autosomal dominantPubMed★ Top pick
Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer Patients
Hereditary colorectal cancer — germline mutation landscape in Chinese population (1,094 CRC patients)
0
Lynch syndromeRecurrent variantMainstreaming
Cancer Med 2026· JunRead
BRCA1
Autosomal dominantPubMed★ Top pick
Decoding BRCA1 and BRCA2 Mutations in High-Grade Serous Ovarian Cancer: Impact on Prognosis, Platinum Response, and Actionability
Germline BRCA1/2-associated high-grade serous ovarian cancer — prognostic impact by variant topography
0
PARP inhibitorPenetrance update
Int J Gynecol Cancer 2026· JunRead
CDKN2B
Autosomal dominantmedRxiv★ Top pick
Disruption of CTCF binding by germline non-coding variants in CDKN2B suppress CDKN2B expression in melanoma-prone families
Hereditary familial melanoma, 9p21 locus without CDKN2A coding variant
0
New geneNew mechanism
medRxiv 2026· JunRead
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
0
Germline predispositionMainstreaming
Clinical Cancer Research 2026· MayRead
TP53
Autosomal dominantPubMed★ Top pick
Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
Li-Fraumeni syndrome (LFS) — TP53 hereditary multi-cancer predisposition
0
Li-Fraumeni / TP53New recommendationPenetrance update
Am J Hum Genet 2026· MayRead
BRCA2
Autosomal dominantPubMed★ Top pick
Measuring disease likelihood in genomic ascertainment.
Secondary findings in genome sequencing — BRCA1/BRCA2: likelihood of genuine clinical diagnosis
0
VUS reclassifiedMainstreaming
Am J Hum Genet 2026· MayRead
ACVRL1
Autosomal 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
0
PARP inhibitorPenetrance update
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)
0
Breast cancerVUS reclassifiedFunctional SNV
Clinical Cancer Research, 2025· JunRead
BRCA1
Autosomal dominantPubMedCholine metabolism drives metastasis in BRCA1-deficient ovarian cancers by activating FAM3C
*BRCA1*-deficient ovarian cancer — metastasis
0
Functional SNV
Nat Commun 2026· JunRead
FANCB
Récessif (FANC) / lié à l'X (*FANCB*)PubMedFanconi Anemia as a Window into Premalignant Field Cancerization of the Oral Mucosa
Fanconi anemia — premalignant field cancerization of the oral mucosa
0
Penetrance update
medRxiv 2026· JunRead
TP53
Autosomal dominantPubMedA zero-parameter framework for accurate TP53 missense variant functional classification.
TP53 missense variant functional classification / Li-Fraumeni syndrome
0
VUS reclassifiedFunctional SNV
PLoS Comput Biol 2026· JunRead
Hereditary prostate cancer — germline variants in real-world multiethnic cohort
Autosomal dominantPubMedPathogenic Germline Variants in a Racially Diverse Real-World Cohort of Patients With Prostate Cancer
Hereditary prostate cancer — germline variants in real-world multiethnic cohort
0
Recurrent variantMainstreaming
J Natl Compr Canc Netw 2026· JunRead
BRCA1
Autosomal dominantPubMedOpportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Participants
Opportunistic BRCA1, BRCA2, and PALB2 screening in Finnish hospital biobank participants
0
Mainstreaming
Cancer Epidemiol Biomarkers Prev 2026· JunRead
Breast cancer
PubMedClinical Performance of International and Korean Genetic Testing Criteria for Hereditary Breast Cancer
Hereditary breast cancer — clinical performance of genetic testing criteria (Korean vs ASCO-SSO/NCCN guidelines)
0
Breast cancerNew recommendationMainstreaming
J Breast Cancer 2026· MayRead
CEBPA
Autosomal dominantPubMedLocation matters: topography of germline CEBPA variants in familial acute myeloid leukaemia.
Familial acute myeloid leukaemia with germline CEBPA variants
0
Penetrance updateRecurrent variant
J Med Genet 2026· MayRead
BRCA1
PubMedHRDetect in Tubo-ovarian Carcinoma: Stratification and Therapeutic Implications.
Tubo-ovarian carcinoma — HRD stratification and PARP inhibitor implications
0
Breast cancerPARP inhibitorNew recommendation
Clin Cancer Res 2026· MayRead
BRCA2
Autosomal dominantPubMedComprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in Japanese hereditary breast and ovarian cancer.
Hereditary breast and ovarian cancer (HBOC)
0
Li-Fraumeni / TP53VUS reclassified
J Med Genet 2026· MayRead
MLH1
Autosomal dominant (secondary epimutation)PubMedClinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis.
Lynch syndrome due to constitutional MLH1 promoter hypermethylation
0
Lynch syndromeRecurrent variantLong-read sequencing
Genetics in Medicine 2026· MayRead
WT1
PubMedGenetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.
Germline predisposition to Wilms tumor
0
Germline predispositionRecurrent variant
International Journal of Molecular Sciences 2026· MayRead
BRCA1
Autosomal 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
0
PARP inhibitorNew recommendation
Nature 2026· MayRead
BRCA1
Autosomal 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
0
Breast cancerRecurrent variantPenetrance update
Am J Hum Genet 2026· MayRead
CDH1
Autosomal 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
0
Gastric cancerRecurrent variantPenetrance update
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)
0
Breast cancerPenetrance update
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
0
Gastric cancerNew genePenetrance update
Gut, 2026· AprRead
Hereditary cancer predispositions — undiagnosed after WES
PubMedGenome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Clinical Impact
Hereditary cancer predispositions — undiagnosed after WES
0
New recommendation
JCO Precision Oncology, 2026· AprRead
BRCA1
Autosomal dominantPubMedThe Clinical Application of Refined Risk Estimates (caRe) Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial
*BRCA1/2* carriers — risk communication and management decision-making
0
Penetrance update
Cancer Prev Res (Phila) 2026· JunRead
BRCA1
Autosomal dominantPubMedBRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications
Hereditary breast and ovarian cancer — *BRCA1* founder variant in the Spanish Roma population
0
Breast cancerRecurrent variant
Eur J Hum Genet 2026· JunRead
BRCA1
Autosomal dominantPubMedFrequency of germline pathogenic variants in breast cancer predisposing genes in a national cohort of young women with breast cancer
Breast cancer in young women (≤40 years) — germline predisposition
0
Breast cancerMainstreamingPenetrance update
Br J Cancer 2026· JunRead
BRCA1
Autosomal dominantPubMedSpectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer
Hereditary breast and ovarian cancer — double heterozygosity
0
Penetrance updateMainstreaming
Eur J Cancer 2026· JunRead
Lynch syndrome
PubMedPerformance of family history-based colorectal cancer screening criteria by race and age at diagnosis in the Disparities and Cancer Epidemiology (DANCE) study
Early-onset colorectal cancer — family history-based screening criteria
0
Lynch syndromeMainstreaming
medRxiv 2026· JunRead
BRCA1
Autosomal dominantPubMedDamaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers
Breast cancer penetrance modifiers in *BRCA1* 185delAG carriers
0
Breast cancerPenetrance update
J Med Genet 2026· JunRead
Lynch syndrome
PubMedNeoadjuvant Single-Cycle Pembrolizumab for Stage I-III MMR-Deficient Colon Cancer: The RESET-C Trial
MMR-deficient colorectal cancer — neoadjuvant immunotherapy
0
Lynch syndromeNew recommendation
J Clin Oncol 2026· JunRead
Breast cancer
Autosomal dominantPubMedGermline BRCA1 and BRCA2 mutations in specific different domains affect ovarian cancer prognosis: A multicenter retrospective study
Hereditary ovarian cancer — germline *BRCA1/2* variants by domain
0
Breast cancerPenetrance update
Chin Med J 2026· JunRead
Prophylactic surgery *BRCA1/2* — occult lesions at risk-reducing salpingo-oophorectomy
Autosomal dominantPubMedOccult invasive and preneoplastic lesions at risk-reducing salpingo-oophorectomy in BRCA1/2 carriers: A multicenter retrospective cohort study
Prophylactic surgery *BRCA1/2* — occult lesions at risk-reducing salpingo-oophorectomy
0
Prophylactic surgery
Gynecol Oncol 2026· JunRead
Lynch syndrome
Autosomal dominantPubMedLynch Syndrome and Ethnicity: Disparities in Prevalence, Affected Genes, Cancer Spectrum and Screening
Lynch syndrome — ethnic disparities
0
Lynch syndromeMainstreaming
Int J Cancer 2026· JunRead
MLH1
Autosomal dominantPubMedThe germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.
Lynch syndrome
0
Lynch syndromeFunctional SNVVUS reclassified
Cancer Lett 2026· JunRead
BRCA2
PubMedThe 'Prostate Cancer Screening for People at Genetic Risk of Aggressive Disease' (PATROL) study.
Hereditary prostate cancer predisposition
0
New recommendationPenetrance update
BJU Int 2026· JunRead
BRCA2
PubMedComprehensive analysis of BRCA1/2 germline mutations in high-grade prostate cancer among Arab patients.
Hereditary prostate cancer / BRCA1/2
0
Penetrance updateRecurrent variant
Front Cell Dev Biol 2026· JanRead
Breast cancer
PubMedAre current Polish guidelines for prophylactic mastectomy sufficient?
Prophylactic mastectomy — update of Polish recommendations for hereditary breast cancer predispositions
0
Breast cancerNew recommendationProphylactic surgery
Hered Cancer Clin Pract 2026· JunRead
BRCA1
Autosomal dominantPubMedNeoadjuvant pembrolizumab plus chemotherapy in germline BRCA-mutated early triple-negative breast cancer: real-world multicenter data
Germline BRCA1/2 early triple-negative breast cancer — response to neoadjuvant pembrolizumab plus chemotherapy
0
NPJ Breast Cancer 2026· JunRead
Germline predisposition
PubMedGermline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Structural Variants in Cancer Risk
Early-onset pediatric solid tumors — germline structural variants for predisposition
0
Germline predispositionMainstreaming
JCO Precis Oncol 2026· JunRead
Lynch syndrome
PubMedPrevalence and clinicopathologic features of mismatch repair-deficient endometrial cancers in young Japanese patients
MMR-deficient endometrial cancers in young Japanese patients — universal Lynch testing
0
Lynch syndromeMainstreamingNew recommendation
Int J Clin Oncol 2026· JunRead
MEN1
Autosomal dominantPubMedA de novo MEN1 gene mutation in a 4-year-old boy with hypoglycemia: A case report and literature review
MEN1 (multiple endocrine neoplasia type 1), de novo MEN1 mutation, pediatric insulinoma at age 4
0
Functional SNVRecurrent variant
Cancer Genet 2026· JunRead
EPCAM
Autosomal dominantPubMedIdentification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome
Lynch syndrome — novel EPCAM-MSH2 intergenic deletion, MSH2 epigenetic silencing mechanism
0
Lynch syndromeRecurrent variantVUS reclassified
J Med Genet 2026· JunRead
Hereditary ovarian cancer in older women (≥70 years) — real-world genetic testing data
PubMedReal-world genetic testing data of ovarian cancer patients: Informing counseling in older women
Hereditary ovarian cancer in older women (≥70 years) — real-world genetic testing data
0
MainstreamingPARP inhibitor
Gynecol Oncol 2026· JunRead
Lynch syndrome
Autosomal dominantPubMedIntegrated tumor and germline profiling of lynch syndrome in a North Indian cohort
Lynch syndrome — germline mutational landscape in a North Indian cohort (CRC + EC)
0
Lynch syndromeRecurrent variant
Front Oncol 2026· JanRead
Breast chemoprevention — noninvasive neoplasia and high-risk lesions
PubMedLow-Dose Tamoxifen in Noninvasive Breast Neoplasia: Long-Term Results From an Individual-Participant Data Pooled Analysis.
Breast chemoprevention — noninvasive neoplasia and high-risk lesions
0
New recommendation
J Clin Oncol 2026· MayRead
Lynch syndrome
PubMedMutations Targeted by Nous-209 Immunotherapy Occur Early in Lynch Syndrome Carriers' Precancer Lesions with Microsatellite Instability.
Lynch syndrome — immunoprevention, MSI precancerous lesions
0
Lynch syndromeNew recommendationMainstreaming
Cancer Prev Res 2026· JunRead
BRCA1
PubMedRadiation therapy management in BRCA1/2 carriers diagnosed with early breast cancer: An international cohort study.
Early breast cancer in BRCA1/2 carriers — radiotherapy vs mastectomy
0
Breast cancerPenetrance update
Radiother Oncol 2026· JunRead
Lynch syndrome
PubMedColonoscopy surveillance in Lynch syndrome: what it prevents and what it does not.
Lynch syndrome (HNPCC) — effectiveness of colonoscopic surveillance
0
Lynch syndromePenetrance update
J Med Genet 2026· MayRead
POT1
Autosomal dominantmedRxivTelomere maintaining germline and somatic variants in thyroid cancer and melanoma
Hereditary cancer predisposition via long-telomere syndrome (POT1, TINF2, ACD) — non-medullary thyroid cancer and melanoma
0
Recurrent variantPenetrance update
medRxiv 2026· MayRead
BRCA2
PubMedGermline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey.
Pancreatic adenocarcinoma with germline predisposition
0
Mainstreaming
Cancer 2026· MayRead
BRCA1
Autosomal dominantPubMedGermline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia.
Hereditary early-onset breast cancer (Ethiopia)
0
Breast cancerRecurrent variant
JCO Global Oncology 2026· MayRead
MSH2
medRxivDiverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.
Unexplained familial cancers without known pathogenic variant
0
Lynch syndromeNew geneLong-read sequencing
medRxiv 2026· MayRead
MSH2
Autosomal 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
0
Lynch syndromeRecurrent variantMainstreaming
PLoS ONE 2026· JanRead
BRCA2
Autosomal 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)
0
MainstreamingRecurrent variant
Jpn J Clin Oncol 2026· MayRead
BRCA2
Autosomal dominantbioRxivDecoding the BRCA2 reversion principles underlying PARP inhibitor resistance.
Germline BRCA2 cancer — PARP inhibitor resistance mechanisms through reversion mutations
0
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
BRCA1
ADPubMedSurvival Outcomes With or Without Risk-Reducing Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers
HBOC — Hereditary breast cancer (primary prevention)
0
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
0
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
0
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)
0
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
0
Li-Fraumeni / TP53Recurrent variantPenetrance update
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
0
Lynch syndromePenetrance update
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
0
Mainstreaming
Gynecologic Oncology, 2026· AprRead
Breast cancer
Autosomal dominantPubMedCharacterizing Breast Cancer Prevalence Among Female SDHx Pathogenic Variant Carriers in a Laboratory Research Registry
Breast cancer in *SDHx* pathogenic variant carriers
0
Breast cancerPenetrance update
Eur J Breast Health 2026· JulRead
Breast cancer
PubMedRucaparib — a PARP inhibitor for the treatment of BRCA-mutated metastatic castration-resistant prostate cancer
Metastatic castration-resistant prostate cancer — germline *BRCA* variants
0
Breast cancerPARP inhibitor
Future Oncol 2026· JunRead
Neurofibromatosis type 1 — malignant peripheral nerve sheath tumours (MPNST)
Autosomal dominantPubMedSurvival and prognosis of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours: a systematic review and meta-analysis
Neurofibromatosis type 1 — malignant peripheral nerve sheath tumours (MPNST)
0
Penetrance update
Orphanet J Rare Dis 2026· JunRead
BRCA1/2-associated hereditary pancreatic ductal adenocarcinoma
Autosomal dominantPubMedHistologic Spectrum of BRCA-Associated Pancreatic Ductal Adenocarcinoma: A Descriptive Morphologic Study
BRCA1/2-associated hereditary pancreatic ductal adenocarcinoma
0
Recurrent variant
Hum Pathol 2026· JunRead
Prophylactic surgery *BRCA1/2* — concurrent hysterectomy
Autosomal dominantPubMedInternational Trends in Concurrent Hysterectomy at Risk-Reducing Surgery in BRCA1/2 pathogenic variant carriers: A mixed-methods study
Prophylactic surgery *BRCA1/2* — concurrent hysterectomy
0
Prophylactic surgery
Am J Obstet Gynecol 2026· JunRead
DICER1
Autosomal dominantPubMedDICER1 Syndrome and Tumor Pathology: An Updated Review for Diagnostic Practice.
DICER1 syndrome / tumor predisposition
0
Phenotypic expansion
Adv Anat Pathol 2026· JunRead
TP53
Autosomal dominantPubMedInterpreting TP53 pathogenic variants: diagnostic complexities of mosaic and germline variants.
Li-Fraumeni syndrome / mosaic TP53 variants
0
Li-Fraumeni / TP53VUS reclassified
J Med Genet 2026· JunRead
VHL
PubMedHereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approach.
Hereditary renal tumor predisposition syndromes (VHL, TSC, BHD, HLRCC)
0
New recommendation
Clin Kidney J 2026· JunRead
MSH2
Autosomal dominantPubMedClinicopathologic Study of 39 Mismatch Repair-deficient Sarcomas Demonstrates Recurrent Histologic Patterns and Supports Universal Screening of Pleomorphic Rhabdomyosarcoma, Uterine Leiomyosarcoma, and Undifferentiated Sarcomas.
Lynch syndrome / MMR-deficient sarcomas
0
Lynch syndromeNew recommendationMainstreaming
Am J Surg Pathol 2026· JunRead
BRCA1
PubMedAssociation of high and moderate penetrance monogenic variants, polygenic risk, and family history with breast cancer in an ancestrally diverse population.
Breast cancer — integration of monogenic variants, polygenic risk score, and family history in a diverse population
0
Breast cancerPenetrance updateMainstreaming
Cancer Genet 2026· JunRead
Lynch syndrome
PubMedOutcomes of multigene panel testing for hereditary cancer in two Israeli medical centers 2013-2024.
Oncogenetics — real-world multigene panel testing outcomes over 11 years
0
Lynch syndromeMainstreaming
Cancer Genet 2026· JunRead
BRCA1
PubMedImpact of Ethnicity on the Uptake of Risk Reducing Mastectomy in Unaffected BRCA1/2 and PALB2 Carriers in Canada.
Risk-reducing mastectomy in BRCA1/2 and PALB2 carriers — ethnicity impact on uptake
0
Breast cancerProphylactic surgery
Ann Surg Oncol 2026· JunRead
Lynch syndrome
PubMedMismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.
Muir-Torre syndrome (Lynch) — benign and atypical ocular sebaceous neoplasms
0
Lynch syndromeMainstreaming
Am J Ophthalmol 2026· JunRead
VHL
Autosomal dominantPubMedComparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome.
Von Hippel-Lindau syndrome with hereditary clear cell renal cell carcinoma
0
Recurrent variantPenetrance update
J Med Genet 2026· MayRead
TP53
Autosomal dominantPubMedGenotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.
Li-Fraumeni syndrome
0
Li-Fraumeni / TP53Recurrent variantPenetrance update
Fam Cancer 2026· MayRead
Lynch syndrome
PubMedCancer Spectrum and Gene-Specific Patterns in Lynch Syndrome: Insights From 47 Families in a Brazilian Institutional Cohort.
Lynch syndrome — gene-specific tumor spectrum (Brazilian cohort)
0
Lynch syndromePenetrance update
JCO Glob Oncol 2026· MayRead
Low-grade mosaicism in tumor predisposition syndromes (VHL, NF1, NF2)
PubMedEnd of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.
Low-grade mosaicism in tumor predisposition syndromes (VHL, NF1, NF2)
0
Recurrent variantMainstreaming
J Med Genet 2026· MayRead
ATRIP
Autosomal dominantPubMedGermline ATRIP variants and the risk of ovarian cancer.
ATRIP-related ovarian cancer predisposition
0
Breast cancerNew genePenetrance update
Genetics in Medicine 2026· AprRead
BRCA1
Autosomal dominantbioRxivEpithelial mesenchymal transition initiates precancer states in BRCA1 mutation carriers.
BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition
0
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
Lynch syndrome
Autosomal dominantPubMedLynch syndrome integrative epidemiology and genetics (LINEAGE): rationale for cohort design.
Lynch syndrome — integrative epidemiological cohort (genetics, environment, penetrance)
0
Lynch syndromePenetrance updateMainstreaming
Fam 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
0
Mainstreaming
JAMA Network Open, 2025· SepRead
BRCA1
Autosomal dominantPubMedLong-Term Outcomes in Patients With Recurrent Ovarian Cancer and Exceptional Response to PARP Inhibitors
Recurrent ovarian cancer — exceptional response to PARP inhibitors
0
Breast cancerPARP inhibitorPenetrance update
JAMA Oncol 2026· JunRead
DICER1
Autosomal dominantPubMedThe SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition
*DICER1*-related tumour predisposition
0
Functional SNV
J Med Genet 2026· JunRead
RB1
Autosomal dominantPubMedSpectrum of Germline Cytogenomic Alterations in RB1 in Mexican Patients With Retinoblastoma.
Retinoblastoma — germline RB1 cytogenomic spectrum in Mexican patients
0
Recurrent variant
Pediatr Blood Cancer 2026· JunRead
TP53
PubMedProton therapy in young breast cancer patients with germline TP53 and ATM mutations: a case series.
Breast cancer — proton therapy in carriers of germline TP53 and ATM mutations
0
Breast cancerProphylactic surgery
Strahlenther Onkol 2026· JunRead
CHEK2
PubMedRecent advances in genetic predisposition to primary testicular tumors.
Genetic predisposition to primary testicular tumors (germ cell and stromal)
0
Penetrance update
Semin Diagn Pathol 2026· MayRead
Pancreatic cystic lesions in hereditary cancer predisposition syndromes
PubMedPancreatic cystic lesions in hereditary syndromes: Diagnostic role of endoscopic ultrasound.
Pancreatic cystic lesions in hereditary cancer predisposition syndromes
0
New recommendation
Best Pract Res Clin Gastroenterol 2026· MarRead
VHL
Autosomal dominantPubMedHereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family.
Von Hippel-Lindau disease type 2 with pediatric pheochromocytoma
0
Recurrent variantPenetrance update
J Clin Res Pediatr Endocrinol 2026· MayRead
PALB2
Autosomal recessive (MUTYH) + autosomal dominant (PALB2)medRxivDifferential causative effects of germline pathogenic variants in MUTYH and PALB2 in a patient with colorectal polyposis and breast cancer
MINAS (Multi-locus Inherited Neoplasia Allele Syndrome) — biallelic MUTYH + heterozygous PALB2
0
PARP inhibitor
medRxiv 2026· MayRead
Germline variants predictive of exceptional response to cancer treatments
medRxivRare Germline Variants in Immune and Drug Target Genes Among Cancer Exceptional Responders
Germline variants predictive of exceptional response to cancer treatments
0
Recurrent variant
medRxiv 2026· MayRead
BRCA1
Autosomal dominantmedRxivTargeted BRCA1/BRCA2 Sequencing in a Bangladeshi Clinically Referred Cohort Identifies Candidate BRCA1 Loss-of-Function Variants and a Multi-Exon Deletion-Like CNV Signal
Hereditary breast and ovarian cancer (HBOC) — Bangladeshi population
0
Breast cancerRecurrent variant
medRxiv 2026· MayRead
EPAS1
PubMedExpanding the clinical tumor phenotype of the EPAS1-associated tumor syndrome.
EPAS1/HIF2α-associated tumor syndrome (Pacak-Zhuang syndrome)
0
Phenotypic expansion
Journal of Clinical Endocrinology and Metabolism 2026· MayRead