Activity
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| Adult solid tumours cancer susceptibility v2.40 | CHEK2 | Arina Puzriakova Publications for gene: CHEK2 were set to 40335619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.39 | CHEK2 |
Ida Ertmanska changed review comment from: PMID: 40335619 Stubbins et al., 2025 Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001). In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history. PMID: 39966186 Weis et al., 2025 Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients). PMID: 25798211 Kaczmarek-Rys et al., 2015 Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019). CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026. The association between CHEK2 and AD CHEK2-related cancer predisposition was classified as Definitive in ClinGen (Hereditary Cancer GCEP, Nov 2024).; to: PMID: 40335619 Stubbins et al., 2025 Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001). In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history. PMID: 39966186 Weis et al., 2025 Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients). PMID: 36360192 Kirchner et al., 2022 Study of a cohort of 150 Croatian men with prostate cancer, plus 442 cancer-free controls. 4/150 individuals harboured a P/LP variant in CHEK2, and developed prostate cancer on average almost 9 years earlier than individuals without CHEK2 variants. PMID: 25798211 Kaczmarek-Rys et al., 2015 Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019). CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026. The association between CHEK2 and AD CHEK2-related cancer predisposition was classified as Definitive in ClinGen (Hereditary Cancer GCEP, Nov 2024). |
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| Adult solid tumours cancer susceptibility v2.39 | CHEK2 | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported with CHEK2 variants and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope.; to: Comment on list classification: There are numerous individuals reported with CHEK2 variants and solid tumors e.g., in breast, thyroid, and prostate cancer. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.39 | CHEK2 | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported with CHEK2 variants (most often p.Ile157Thr) and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope.; to: Comment on list classification: There are numerous individuals reported with CHEK2 variants and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.39 | CHEK2 |
Ida Ertmanska changed review comment from: PMID: 40335619 Stubbins et al., 2025 Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001). In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history. PMID: 39966186 Weis et al., 2025 Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients). PMID: 25798211 Kaczmarek-Rys et al., 2015 Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019). CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026.; to: PMID: 40335619 Stubbins et al., 2025 Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001). In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history. PMID: 39966186 Weis et al., 2025 Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients). PMID: 25798211 Kaczmarek-Rys et al., 2015 Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019). CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026. The association between CHEK2 and AD CHEK2-related cancer predisposition was classified as Definitive in ClinGen (Hereditary Cancer GCEP, Nov 2024). |
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| Adult solid tumours cancer susceptibility v2.39 | CHEK2 | Ida Ertmanska edited their review of gene: CHEK2: Changed publications to: 25798211, 39966186, 40335619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.39 | CHEK2 |
Ida Ertmanska changed review comment from: PMID: 40335619 Stubbins et al., 2025 Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001). In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history.; to: PMID: 40335619 Stubbins et al., 2025 Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001). In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history. PMID: 39966186 Weis et al., 2025 Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients). PMID: 25798211 Kaczmarek-Rys et al., 2015 Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019). CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026. |
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| Adult solid tumours cancer susceptibility v2.39 | CHEK2 | Ida Ertmanska Phenotypes for gene: CHEK2 were changed from Breast cancer to Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.38 | CHEK2 | Ida Ertmanska Publications for gene: CHEK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.37 | CHEK2 | Ida Ertmanska Classified gene: CHEK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.37 | CHEK2 | Ida Ertmanska Added comment: Comment on list classification: There are numerous individuals reported with CHEK2 variants (most often p.Ile157Thr) and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.37 | CHEK2 | Ida Ertmanska Gene: chek2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.36 | CHEK2 | Ida Ertmanska Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.35 | CHEK2 |
Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: CHEK2. Tag Q2_26_expert_review tag was added to gene: CHEK2. |
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| Adult solid tumours cancer susceptibility v2.35 | CHEK2 | Ida Ertmanska reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40335619; Phenotypes: Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | CHEK2 | Ivone Leong Source NHS GMS was added to CHEK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility | CHEK2 | Ellen McDonagh classified CHEK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility | CHEK2 | Clare Turnbull reviewed CHEK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||