Full archive

Metastatic castration-resistant prostate cancer

Hereditary diffuse gastric cancer

Neurofibromatosis type 1 and cancer risk

Hereditary breast and ovarian cancer (HBOC)

Prostate cancer — germline predisposition

Hereditary colorectal cancer — MSH3 or MLH3 deficiency

Hereditary cancer predisposition — familial risk stratification

Hereditary lung cancer predisposition

Hereditary breast cancer (BRCA2 variants of uncertain significance)

Hereditary cancers (expanded testing beyond NCCN criteria)

*BRCA1*-deficient ovarian cancer — metastasis

Fanconi anemia — premalignant field cancerization of the oral mucosa

TP53 missense variant functional classification / Li-Fraumeni syndrome

Hereditary prostate cancer — germline variants in real-world multiethnic cohort

Opportunistic BRCA1, BRCA2, and PALB2 screening in Finnish hospital biobank participants

Hereditary breast cancer — clinical performance of genetic testing criteria (Korean vs ASCO-SSO/NCCN guidelines)

Familial acute myeloid leukaemia with germline CEBPA variants

Tubo-ovarian carcinoma — HRD stratification and PARP inhibitor implications

Hereditary breast and ovarian cancer (HBOC)

Lynch syndrome due to constitutional MLH1 promoter hypermethylation

Germline predisposition to Wilms tumor

BRCA1/BRCA2 hereditary breast, ovarian, prostate, and pancreatic cancer predisposition — PARP inhibitors as germline therapeutic biomarker

Early-onset breast cancer — ultra-rare germline variants in predisposition genes and pathways

Early-onset gastroesophageal cancer (<50 years) — enrichment in germline CDH1 and TP53 variants

Hereditary breast cancer (HBOC) in young patients (≤40 years)

Hereditary diffuse gastric cancer (HDGC) spectrum — CTNNA1-related

Hereditary cancer predispositions — undiagnosed after WES

HER2-negative early breast cancer in young carriers

Urinary tract cancer

Early-onset cancers in young male patients

Prostate cancer, inherited genetic risk

NF2-related schwannomatosis

Pancreatic cancer, germline predisposition

Attenuated Li-Fraumeni syndrome — TP53 p.Gly334Arg variant

HR-positive/HER2-negative metastatic breast cancer in BRCA2 carriers

Hereditary breast and ovarian cancer — healthy relatives

PTEN hamartoma tumour syndrome (PHTS)

Invasive lobular breast carcinoma

Li-Fraumeni syndrome

Secondary findings in cancer predisposition genes

Hereditary prostate cancer

*BRCA1/2* carriers — risk communication and management decision-making

Hereditary breast and ovarian cancer — *BRCA1* founder variant in the Spanish Roma population

Breast cancer in young women (≤40 years) — germline predisposition

Hereditary breast and ovarian cancer — double heterozygosity

Early-onset colorectal cancer — family history-based screening criteria

Breast cancer penetrance modifiers in *BRCA1* 185delAG carriers

MMR-deficient colorectal cancer — neoadjuvant immunotherapy

Hereditary ovarian cancer — germline *BRCA1/2* variants by domain

Prophylactic surgery *BRCA1/2* — occult lesions at risk-reducing salpingo-oophorectomy

Lynch syndrome — ethnic disparities

Lynch syndrome

Hereditary prostate cancer predisposition

Hereditary prostate cancer / BRCA1/2

Prophylactic mastectomy — update of Polish recommendations for hereditary breast cancer predispositions

Germline BRCA1/2 early triple-negative breast cancer — response to neoadjuvant pembrolizumab plus chemotherapy

Early-onset pediatric solid tumors — germline structural variants for predisposition

MMR-deficient endometrial cancers in young Japanese patients — universal Lynch testing

MEN1 (multiple endocrine neoplasia type 1), de novo MEN1 mutation, pediatric insulinoma at age 4

Lynch syndrome — novel EPCAM-MSH2 intergenic deletion, MSH2 epigenetic silencing mechanism

Hereditary ovarian cancer in older women (≥70 years) — real-world genetic testing data

Lynch syndrome — germline mutational landscape in a North Indian cohort (CRC + EC)

Breast chemoprevention — noninvasive neoplasia and high-risk lesions

Lynch syndrome — immunoprevention, MSI precancerous lesions

Early breast cancer in BRCA1/2 carriers — radiotherapy vs mastectomy

Lynch syndrome (HNPCC) — effectiveness of colonoscopic surveillance

Hereditary cancer predisposition via long-telomere syndrome (POT1, TINF2, ACD) — non-medullary thyroid cancer and melanoma

Pancreatic adenocarcinoma with germline predisposition

Hereditary early-onset breast cancer (Ethiopia)

Unexplained familial cancers without known pathogenic variant

Lynch syndrome — hereditary colorectal and associated cancer predisposition linked to MMR genes

Germline variants identified through cancer precision medicine — cascade testing of relatives (BRCA1/2, ATM, MSH2, APC, BAP1, CDK4, CDKN2A, RAD51C)

Germline BRCA2 cancer — PARP inhibitor resistance mechanisms through reversion mutations

HBOC — Hereditary breast cancer (primary prevention)

HBOC — surgical safety data for risk-reducing mastectomy

Hereditary breast cancer — definition of the mainstream oncology testing panel

gBRCA1/2 breast cancer, early stage (triple negative or luminal)

Li-Fraumeni syndrome (attenuated) — pan-cancer predisposition

Lynch syndrome — gene-specific cancer risks in female carriers

Hereditary cancer predisposition — cascade testing implementation

DICER1-related tumour predisposition

Hereditary haemorrhagic telangiectasia type 2

Mismatch repair and CpG hypermutation in tumours

Lynch syndrome

Metastatic castration-resistant prostate cancer

Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT)

Lynch syndrome

HER2-negative locally advanced or metastatic breast cancer in germline BRCA carriers

Lynch syndrome and hereditary colorectal cancer predisposition

Hereditary cancers, Indian cohort

Early-onset colorectal cancer, mismatch repair deficiency

von Hippel-Lindau disease, renal cell carcinoma

Childhood cancer predisposition syndromes

Interpretation of hereditary cancer variants in tumor-only sequencing

Familial glioblastoma

Breast cancer — CHEK2 p.I157T carriers

Lynch syndrome gynaecological cancers (dMMR/MSS phenotype)

Lynch syndrome

Therapy-related myeloid neoplasms (t-MN)

Hereditary diffuse gastric cancer (CDH1 carriers)

BAP1 tumor predisposition syndrome (BAP1-TPDS)

Breast cancer in *SDHx* pathogenic variant carriers

Metastatic castration-resistant prostate cancer — germline *BRCA* variants

Neurofibromatosis type 1 — malignant peripheral nerve sheath tumours (MPNST)

BRCA1/2-associated hereditary pancreatic ductal adenocarcinoma

Prophylactic surgery *BRCA1/2* — concurrent hysterectomy

DICER1 syndrome / tumor predisposition

Li-Fraumeni syndrome / mosaic TP53 variants

Hereditary renal tumor predisposition syndromes (VHL, TSC, BHD, HLRCC)

Lynch syndrome / MMR-deficient sarcomas

Breast cancer — integration of monogenic variants, polygenic risk score, and family history in a diverse population

Oncogenetics — real-world multigene panel testing outcomes over 11 years

Risk-reducing mastectomy in BRCA1/2 and PALB2 carriers — ethnicity impact on uptake

Muir-Torre syndrome (Lynch) — benign and atypical ocular sebaceous neoplasms

Von Hippel-Lindau syndrome with hereditary clear cell renal cell carcinoma

Li-Fraumeni syndrome

Lynch syndrome — gene-specific tumor spectrum (Brazilian cohort)

Low-grade mosaicism in tumor predisposition syndromes (VHL, NF1, NF2)

ATRIP-related ovarian cancer predisposition

BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition

Lynch syndrome — integrative epidemiological cohort (genetics, environment, penetrance)

Breast cancer — prevalence and ethnic disparities of BRCA1/2 variants

Malignant peripheral nerve sheath tumour associated with neurofibromatosis type 1

Muir-Torre syndrome

Ovarian, breast, prostate and pancreatic cancers with homologous recombination gene alterations

High-risk prostate cancer and germline predisposition variants

Pheochromocytomas and paragangliomas related to the SDHC c.397C>T founder variant

Metastatic risk in pheochromocytoma and paraganglioma

High-grade serous ovarian carcinoma

Multilocus inherited neoplasia alleles syndrome

NF1-negative optic pathway glioma

Hereditary primary hyperparathyroidism — fumarate hydratase deficiency

Hereditary retinoblastoma (RB1 variants)

Li-Fraumeni syndrome

Germline and somatic mosaicism (implications for cancer genetics)

Recurrent ovarian cancer — exceptional response to PARP inhibitors

*DICER1*-related tumour predisposition

Retinoblastoma — germline RB1 cytogenomic spectrum in Mexican patients

Breast cancer — proton therapy in carriers of germline TP53 and ATM mutations

Genetic predisposition to primary testicular tumors (germ cell and stromal)

Pancreatic cystic lesions in hereditary cancer predisposition syndromes

Von Hippel-Lindau disease type 2 with pediatric pheochromocytoma

MINAS (Multi-locus Inherited Neoplasia Allele Syndrome) — biallelic MUTYH + heterozygous PALB2

Germline variants predictive of exceptional response to cancer treatments

Hereditary breast and ovarian cancer (HBOC) — Bangladeshi population

EPAS1/HIF2α-associated tumor syndrome (Pacak-Zhuang syndrome)

Hepatocellular carcinoma in high-altitude-adapted populations and antiangiogenic tyrosine kinase inhibitor resistance

Premature surgical menopause after risk-reducing salpingo-oophorectomy in BRCA carriers

Hereditary gastric cancer

BRCA1/2 carriers — prophylactic mastectomy

Paediatric/AYA CNS tumours — BRCA1/2 variants

Lung adenocarcinoma in Li-Fraumeni syndrome