Table 1.

Germline and somatic genes mutations involved in HR and related tumors ¹⁹

Gene	Tumor types with somatic alterations (mutation, deletion or promoter hypermethylation)	Tumor types or syndromes with germline mutation
BRCA 1	TNBC, HGSOC, lung cancer, prostate cancer, mCRPC, and PDAC.	TNBC, HGSOC and PDAC
BRCA 2	BC, HGSOC, PDAC, prostate cancer, mCRPC, gastric, bladder and lung cancer, DLBCL and sarcoma	BC, HGSOC, PDAC and leukemia
ATM	T‑PLL, BC, GBM, ccRCC, lung adenocarcinoma, sarcoma, and prostate, gastric, bladder, colorectal, uterine and pancreatic cancer	Leukemia, lymphoma, medulloblastoma, glioma and ataxia telangiectasia
ATR	Breast, colorectal, head and neck, gastric and uterine cancer	Oropharyngeal cancer and familial cutaneous telangiectasia and cancer syndrome
CHEK 2 (CHK2)	Uterine cancer and HGSOC	BC
PALB2	Gastric cancer and HGSOC	Wilms tumor, medulloblastoma, AML, Fanconi anemia, BC, PDAC and HGSOC

AML, acute myeloid leukemia; ATM, ataxia telangiectasia mutated; ATR, ataxia telangiectasia; DLBCL, diffuse large B cell lymphoma; GBM, glioblastoma; ccRCC, clear cell renal cell carcinoma; HGSOC, high grade serous-ovarian cancer, mCRPC, metastatic castration-resistant prostate cancer; PDAC, pancreatic ductal adenocarcinoma, TNBC, triple negative breast cancer; T‑PLL, T-cell prolymphocytic leukemia; WRN, Werner syndrome, RecQ helicase-like.