Variant · Indel

CHEK2 1100DELC

CI-VAR-00000023Explore in graph →NP_009125.1:p.Thr367MetfsNM_007194.3:c.1100delCClinVar 128042 CIViC 785 rs555607708

Curated evidence

Evidence by cancer (3 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–3 of 3 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Breast Neoplasm1
CHEK2 1100DELC	(prognostic)	Prognostic	B	Supports Poor Outcome	4	submitted	EID7235 CHECK2 1100DELC carriers (n=124) had an increased rate of contralateral breast cancer (multivariate hazard ratio 3.97, 95% confidence interval 2.59-6.07) and worse survival rates than non-carriers. T… (full text at CIViC) PMID 24918820 · Kriege et al., 2014 · Open in CIViC	civic
Malignant Prostate Neoplasm2
CHEK2 1100DELC	(predisposing)	Predisposing	B	Supports Predisposition	3	rejected	EID1849 Meta-analysis linking CHEK2 1100delC to a higher risk in prostate cancer ((OR 3.29; 95% confidence interval: 1.85-5.85; P = 0.00) ). PMID 26629066 · Wang et al., 2015 · Open in CIViC

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
128042	Pathogenic	criteria provided, multiple submitters, no conflicts	2	CHEK2-related cancer predisposition; Hereditary cancer-predisposing syndrome; Familial cancer of breast; Breast and colorectal cancer, susceptibility to; Breast neoplasm; Breast cancer, susceptibility to; Leiomyosarcoma; Bone osteosarcoma; Prostate cancer; Li-Fraumeni syndrome; Astrocytoma; Malignant tumor of breast; Breast and/or ovarian cancer; Carcinoma of pancreas; Breast carcinoma; Hereditary breast ovarian cancer syndrome; Predisposition to cancer; Colorectal cancer; Li-Fraumeni syndrome 1; Ovarian neoplasm; TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL; Inherited breast cancer and ovarian cancer; CHEK2-related disorder; Familial prostate cancer; NICE approved PARP inhibitor treatment; Inherited prostate cancer; Breast-ovarian cancer, familial, susceptibility to, 1