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Cancer Risk Profile

Cancer genetic testing involves analyzing an individual's DNA to identify specific genetic changes linked to an increased risk of developing certain types of cancer. These tests aim to detect inherited genetic mutations that can predispose individuals to various cancer types, guiding decisions about screenings, prevention strategies, and potential treatments. The results inform risk assessment, family health history, and can guide personalized treatment approaches, especially in precision medicine.

Conditions and Genes

The table below outlines some key gene mutations and their associations with specific cancer conditions. It is important to note that these associations may vary, and genetic testing results should be interpreted by healthcare professionals. The table serves as a reference for understanding the genetic basis of certain cancers and can aid in targeted screening and treatment approaches.
Conditions
Genes
Mesothelioma
BAP1
Peutz-Jeghers Syndrome
STK11
Neurofibromatosis Type 1
NF1
Hereditary Hemorrhagic Telangiectasia
SMAD4
Melanoma
CDKN2A, CDK4, BAP1, MITF, TERT, KIT
Familial Atypical Multiple Mole Melanoma Syndrome
CDKN2A
Breast Cancer
BRCA1, BRCA2, TP53, PTEN, PALB2, ATM, CHEK2, RAD51C, RAD51D, NBN, BARD1, CDH1, STK11, NF1, MSH6
Thyroid Cancer
PTEN
Cowden Syndrome
PTEN
Juvenile Polyposis Syndrome
BMPR1A, SMAD4
Lynch Syndrome
MLH1, MSH2, MSH6, PMS2, EPCAM
Hereditary Diffuse Gastric Cancer
CDH1
Nervous System Tumors
NF1, TP53
Pancreatic Cancer
BRCA2, ATM, PALB2, CDKN2A, STK11, TP53
Bloom Syndrome
BLM
Colorectal Cancer
APC, MUTYH, MLH1, MSH2, MSH6, PMS2, BMPR1A, SMAD4, POLD1, POLE, GREM1, BLM, CHEK2
Gastrointestinal Stromal Tumors (GIST)
KIT
Endometrial Cancer
PTEN, MLH1, MSH2, MSH6, PMS2, EPCAM
Ovarian Cancer
BRCA1, BRCA2, TP53, BRIP1, PALB2, RAD51C, RAD51D, MSH2, MLH1, STK11
Leukemia
NF1, TP53
Li-Fraumeni Syndrome
TP53
Familial Adenomatous Polyposis
APC
Polyposis Syndromes
APC (Familial Adenomatous Polyposis), MUTYH (MUTYH-associated polyposis), POLD1, POLE (Polymerase proofreading-associated polyposis)
Gastric Cancer
CDH1, STK11

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