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102 articles across 9 weeks of watch.

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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 dominantPubMed

Choline 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*)PubMed

Fanconi 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 dominantPubMed

A 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 dominantPubMed

Pathogenic 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 dominantPubMed

Opportunistic 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
PubMed

Clinical 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 dominantPubMed

Location 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
PubMed

HRDetect 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 dominantPubMed

Comprehensive 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)PubMed

Clinical 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
PubMed

Genetic 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 dominantPubMed

Ultra-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 dominantPubMed

Molecular 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
ADPubMed

Association 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
ADPubMed

Hereditary 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
PubMed

Genome 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 dominantPubMed

The 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 dominantPubMed

BRCA1 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 dominantPubMed

Frequency 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 dominantPubMed

Spectrum 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
PubMed

Performance 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 dominantPubMed

Damaging 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
PubMed

Neoadjuvant 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 dominantPubMed

Germline 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 dominantPubMed

Occult 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 dominantPubMed

Lynch 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 dominantPubMed

The 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
PubMed

The '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
PubMed

Comprehensive 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
PubMed

Are 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 dominantPubMed

Neoadjuvant 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
PubMed

Germline 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
PubMed

Prevalence 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 dominantPubMed

A 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 dominantPubMed

Identification 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
PubMed

Real-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 dominantPubMed

Integrated 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
PubMed

Low-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
PubMed

Mutations 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
PubMed

Radiation 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
PubMed

Colonoscopy 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 dominantmedRxiv

Telomere 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
PubMed

Germline 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 dominantPubMed

Germline 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
medRxiv

Diverse 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 dominantPubMed

WGS 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 dominantPubMed

Uptake 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 dominantbioRxiv

Decoding 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
ADPubMed

Survival 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
ADPubMed

Surgical 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
ADPubMed

Breast 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
ADPubMed

Neoadjuvant 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
ADPubMed

European 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
ADPubMed

Gene-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
ADPubMed

ACT-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 dominantPubMed

Characterizing 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
PubMed

Rucaparib — 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 dominantPubMed

Survival 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 dominantPubMed

Histologic 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 dominantPubMed

International 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 dominantPubMed

DICER1 Syndrome and Tumor Pathology: An Updated Review for Diagnostic Practice.

DICER1 syndrome / tumor predisposition
0
Phenotypic expansion
Adv Anat Pathol 2026· JunRead
TP53
Autosomal dominantPubMed

Interpreting 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
PubMed

Hereditary 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 dominantPubMed

Clinicopathologic 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
PubMed

Association 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
PubMed

Outcomes 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
PubMed

Impact 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
PubMed

Mismatch 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 dominantPubMed

Comparison 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 dominantPubMed

Genotypic 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
PubMed

Cancer 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)
PubMed

End 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 dominantPubMed

Germline 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 dominantbioRxiv

Epithelial 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 dominantPubMed

Lynch 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
ADPubMed

Prevalence 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 dominantPubMed

Long-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 dominantPubMed

The 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 dominantPubMed

Spectrum 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
PubMed

Proton 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
PubMed

Recent 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
PubMed

Pancreatic 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 dominantPubMed

Hereditary 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)medRxiv

Differential 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
medRxiv

Rare 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 dominantmedRxiv

Targeted 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
PubMed

Expanding 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