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CHEK2 gene related symptoms and diseases

All the information presented here about the CHEK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CHEK2 gene

Symptoms // Phenotype % Cases
Neoplasm Common - Between 50% and 80% cases
Prostate cancer Common - Between 50% and 80% cases
Breast carcinoma Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Melanoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CHEK2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Sarcoma
  • Stomach cancer
  • Neoplasm of the pancreas

  • Rarely - Less than 30% cases

  • Joint swelling
  • Pain
  • Fever
  • Weight loss
  • Abnormality of the metaphysis

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CHEK2 gene

Here you will find a list of rare diseases related to the CHEK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL PROSTATE CANCER

Alternate names

FAMILIAL PROSTATE CANCER Is also known as prca1

Description

Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.

Most common symptoms of FAMILIAL PROSTATE CANCER

  • Neoplasm
  • Prostate cancer


More info about FAMILIAL PROSTATE CANCER

SOURCES: ORPHANET OMIM

LI-FRAUMENI SYNDROME

Alternate names

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni, sbla syndrome

Description

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

Most common symptoms of LI-FRAUMENI SYNDROME

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


More info about LI-FRAUMENI SYNDROME

SOURCES: OMIM ORPHANET

OSTEOSARCOMA

Alternate names

OSTEOSARCOMA Is also known as osteogenic sarcoma

Description

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

Most common symptoms of OSTEOSARCOMA

  • Pain
  • Fever
  • Weight loss
  • Abnormality of the metaphysis
  • Osteolysis


More info about OSTEOSARCOMA

SOURCES: ORPHANET

HEREDITARY BREAST AND OVARIAN CANCER SYNDROME

Description

Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.

Most common symptoms of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME

  • Neoplasm
  • Carcinoma
  • Melanoma
  • Breast carcinoma
  • Ovarian neoplasm


More info about HEREDITARY BREAST AND OVARIAN CANCER SYNDROME

SOURCES: OMIM ORPHANET

LI-FRAUMENI SYNDROME 2; LFS2

Most common symptoms of LI-FRAUMENI SYNDROME 2; LFS2

  • Neoplasm
  • Breast carcinoma
  • Sarcoma
  • Meningioma
  • Stomach cancer


More info about LI-FRAUMENI SYNDROME 2; LFS2

SOURCES: MESH OMIM



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