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Info & Infographics about Genes, Germline Mutations, and Hereditary Cancer Prevention
It is estimated that 1 in 279 people carry an inherited mutation that puts them at risk of developing cancer.
However, hereditary cancers are the most preventable. Knowledge is power. Genetic testing saves lives.

(Please note: This is just a simple glossary of terms and some of the more common inherited genetic mutations that may increase the risk of hereditary cancer. For questions or concerns about anything presented here, please talk to your doctor and/or a genetic counselor.)

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A
AIP genes encode a tumor suppressor protein. Pathogenic germline AIP mutations are associated with Familial Isolated Pituitary Adenomas.
AKT1 genes contain instructions for making a protein called AKT1 kinase, which helps control cell division and growth. It also helps control the self-destruction, or apoptosis, of cells that are not functioning properly or are no longer needed. AKT1 genetic variants can increase susceptibility to thyroid cancer
APC gene provides the genetic instructions for making APC protein, a tumor suppressor. Pathogenic germline APC mutations may increase the risk for colorectal (colon) cancer, intestinal cancer, and other cancers. Familial Adenomatous Polyposis (FAP) can also be caused by a germline mutation in an APC gene.
Apoptosis is the process of programmed cell death, which is the self-destruction of cells that are not functioning properly or are no longer needed.
ATM is a tumor suppressor gene. It helps repair damaged DNA. Pathogenic germline mutations in this gene are associated with lymphoma, leukemia, stomach cancer, brain cancer, ovarian cancer, breast cancer, skin cancer, liver cancer, and others.
ATRIP or the ATR Interacting Protein gene, encodes protein important in DNA repair. Germline mutations in the ATRIP gene can increase the risk of breast cancer.
AXIN2 is a protein coding gene. Pathogenic germline mutations are associated with colorectal (colon) cancer.
B
BAP1 gene provides instructions for making BRCA1-Associated Protein1, which helps control cell growth, repair, and cell death. Pathogenic germline mutations in this gene are associate with BAP1 Tumor Predisposition Syndrome and an increased risk of melanoma, mesothelioma, and other cancers.
BARD1 gene works in conjunction with the BRCA1 gene to repair damaged DNA and also as a tumor suppressor gene. Pathogenic BARD1 germline mutations are associated with an increased risk of neuroblastoma, lung, breast, and cervical cancers.
Biomarker Testing looks for proteins, genes, and other substances found in body fluid and tissue. Since each person's cancer is different, biomarker testing can offer information about the particular cancer. It also can often offer clues to what treatments would be the most effective.
BMPR1A gene makes a protein that regulates cell growth and division. Pathogenic germline mutations in this gene are associated with Juvenile Polyposis Syndrome and an increased risk of colorectal (colon), stomach, and intestinal cancer. 
BRCA stands for (BReast CAncer gene). Everybody has BRCA1 & BRCA2 tumor suppressor genes. BRCA genes produce proteins that help repair damaged DNA and prevent cancer. Pathogenic germline mutations in these genes are linked to various types of cancer, including breast (men and women), ovarian, prostate, melanoma, pancreatic, and other cancers. 
BRIP1 or BRCA1 Interacting Protein 1, works with BRCA1 to repair DNA. Pathogenic germline mutations in a BRIP1 gene may increase the risk for ovarian cancer and breast cancer.
C
Cascade Testing is one of the most important steps in breaking the cycle of hereditary cancer in families. This testing-sharing-testing-sharing of genetic information plays a vital role in protecting the health and lives of loved ones in families with a history of cancer. 

Cascade testing requires
two very important steps: 


1. Having testing done. 
2. Sharing information. 

That includes sharing test results and the specific mutation in the gene, like 5385delAG in BRCA1. 
The information should be shared with all these living genetic relatives: parents, siblings, aunts, uncles, nieces, nephews, and cousins. And it needs to be shared as soon as the information is known.
 


(More helpful tools for sharing info with family here.)

Cascade Testing Infographic thumbnail
Cascade Genetic Testing PDF

Pruebas genéticas en cascada PDF

CDC73 gene carries the instructions for producing a protein called parafibromin, a tumor suppressor. Pathogenic germline mutations in CDC73 are associated with renal and endocrine cancers. 
CDH1 gene is involved in making epithelial cadherin protein. A pathogenic germline mutation in a CDH1 gene is associated with Hereditary Diffuse Gastric Cancer syndrome (HDGC) which increases the risk of gastric, breast, colorectal, ovarian, and thyroid cancers.
CDK4 gene is a tumor suppressor gene. A pathogenic germline CDK4 mutation is associated with an increased risk hereditary melanoma and other cancers.
CDKN2A genes furnish instructions for making several proteins which act as tumor suppressors. A pathogenic germline mutation in a CDKN2A gene can increase the risk of for melanoma, pancreatic cancer, and other cancers.
CDKN1B gene carries the instructions for producing p27 protein, a tumor suppressor protein involved in cell growth and division. Pathogenic germline in CDKN1B are associated with Multiple Endocrine Neoplasia Type 4 (MEN4) pituitary, parathyroid, and pancreatic neuroendocrine tumors.
Cowden Syndrome is a hard-to-recognize condition characterized by benign overgrowths called hamartomas. There is an increased lifetime risk of breast, thyroid, and other cancers. Pathogenic germline mutations in PTEN, AKT1, and PIK3CA genes have been linked to the syndrome.
CTNNA1 germline mutations are associated with gastric cancer. (Also see CDH1 and Hereditary Diffuse Gastric Cancer.)

D

DDX41is a protein coding gene. Pathogenic germline mutations in DDX41 genes are associated blood cancers, specifically, familial myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs).
De Novo Mutations are DNA changes that were not inherited. De novo mutations can occur at conception, during embryonic or fetal development, after birth, or later in life. 
DICER1 is RNA process regulating gene. Pathogenic germline mutations in this gene are associated with breast, ovarian, lung, brain, and other cancers.
DNA or Deoxyribonucleic acid, is the material that holds genetic instructions for the development, functioning, and hereditary traits of every living organism on the planet. Four smaller molecules called nucleotides make up all DNA at the basic level. Nucleotides are the building blocks of DNA. These building blocks are composed of three parts: phosphate, sugar, and one of four types of nitrogen bases: adenine (often denoted as "A"), cytosine ("C"), guanine ("G"), and thymine ("T"). Also see RNA.
E
EGFR gene carries the instructions for making Epidermal Growth Factor Receptor (EGFR) protein. EGFR is a protein that helps cells grow. Pathogenic germline mutations in the EGFR gene are linked to a predisposition to lung cancer and other conditions.
EPCAM is a protein coding gene. Pathogenic germline mutations can increase the risk of Lynch syndrome. Which includes many cancers, but particularly colon and the rectal cancer and uterine cancer.
F
Family Health/Cancer History Pedigree Knowing your family's health history, especially if there is any history of cancer, is very important. Download the Family Health/Cancer History Pedigree PDF to fill out to take to your doctor and/or genetic counselor.

Family Health History Pedigree - Family  Pedigree - Family Tree

Download the Fillable Pedigree PDF

 FH (Fumarate Hydratase) is a tumor suppressor gene. Pathogenic germline mutations in this gene are linked to uterine fibroids, renal/urinary track cancer and endocrine cancer.
Follow the Firsts is a concept in cascade testing for germline mutations that no matter who is being tested, there is always another first-degree relative that might need to be tested as well. Download the infographic.
G
GALNT12 is a protein-coding gene. Pathogenic germline mutations in GALNT12 genes are associated with an increased for colorectal cancer.
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) GAPPS can cause polyps to form on the inside lining of the stomach. Polyps can be benign, but can turn cancerous spread to other parts of the body. 

(More GAPPS info from the National Institute of Health.)

Germline Mutation -- In simple terms, germline means the DNA that you inherit at conception. Germline mutations are broken parts of certain genes that you may inherit at conception. Some germline mutations might put you at risk for developing cancer. 


Download the PDF

H 
Hamartomas are usually slow-growing noncancerous tumors. However, hamartomas may increase the risk of certain cancers. Hamartomas can grow almost anywhere on the body, but are typically found in the lungs, breast, and colon. Hamartomas are usually caused by an inherited genetic mutation. 
HBOC stands for Hereditary Breast and Ovarian Cancer Syndrome. It is an inherited syndrome that increases the risk for breast, ovarian, and other cancers. HBOC is caused by germline mutations passed down in families. BRCA1 and BRCA2 mutations are the most common ones associated with HBOC. PALB2, ATM and CHEK2 are some of the other mutations also associated with HBOC.
Hereditary Cancer Week is a yearly event that begins on the last Sunday in September, with National Previvor Day being celebrated on the Wednesday of that week. In 2010, Congress unanimously passed a resolution creating National Hereditary Breast and Ovarian Cancer Week and National Previvor Day. Since then, the week has been renamed National Hereditary Cancer Week to encompass all the hereditary cancers.
Hereditary Diffuse Gastric Cancer (HDGC) is a rare cancer syndrome with an increased risk of developing two types of cancer: diffuse gastric cancer (DGC) and lobular breast cancer (LBC). It is also associated with an increased the risk of ovarian and thyroid cancers. 

(More HDGC info from the National Institute of Health.)
I
Inherited Mutations
(see germline mutations)

Infographics about inherited Lynch Syndrome and BRCA mutations:

J
K
KIT is a protein coding gene. Pathogenic germline mutations are associated with rare Familial Gastrointestinal Stromal Tumors (GIST).

L

Li-Fraumeni Syndrome is a rare inherited condition that increases the risk of breast cancer, osteosarcoma, gliomas and leukemia. Pathogenic germline mutations in the TP53  gene are associated with this disorder.
Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal (colon) cancer, endometrial, ovarian cancer, pancreatic cancer, and other cancers. MLH1, MSH2, MSH6, PMS2, and EPCAM pathogenic germline mutations are all linked to the risk of Lynch Syndrome.
M 
MEN1 or Multiple Endocrine Neoplasia type 1, is a tumor suppressor gene. Pathogenic germline mutations in MEN1 genes are associated with pituitary, parathyroid, and enteropancreatic tumors.
MLH1, MSH2, MSH3, MSH6, pathogenic germline mutations in these genes can increase the risk of Lynch syndrome. Which includes many cancers, but particularly colon and rectal cancer.
Mutation -- In genetics, a mutation is a DNA sequence change that was caused by deleting, adding, or replacing parts of your DNA. Genetic mutations can be somatic or germline. And they can be either benign (causing no harm) or pathogenic (increased risk of disease.) 
MUTYH gene is a DNA repair gene. A pathogenic germline mutation in this gene can increase the risk of colorectal (colon) cancer, thyroid cancer, ovarian cancer, and other cancers.
N
Neoplasms are abnormal growth of cells in the body. They can be cancerous or benign (non-cancerous).
NF1 and NF2 genes carries the genetic instructions for producing neurofibromin protein, a tumor suppressor. Pathogenic germline mutations is these genes are associated with brain cancer, breast cancer, endocrine cancer, nervous system cancer,  and gastric cancer. 
Nucleotides are organic compounds that the form the basic building blocks of nucleic acids DNA and RNA. The four nucleobases used in DNA are adenine (A), cytosine (C), guanine (G) and thymine (T). In RNA, the base uracil (U) takes the place of thymine. Nucleotides in genes are connected in a specific order to convey hereditary information.
O
Oncogenes are genes that control cell growth and division that have mutated. Oncogenes have the potential to cause cancer by causing loss of function or uncontrolled cell growth.
Other Helpful Materials
P
PALB2 genes work with BRCA2 genes in DNA damage repair. Pathogenic germline mutations in PALB2 genes increases the risk for breast cancer, pancreatic,and ovarian cancer. PALB2 genes are sometimes referred to as “BRCA3” genes.
Pathogenic Variant (mutation) is a change in a gene that increases the risk of diseases like cancer.
Peutz-Jeghers Syndrome (PJS) is an inherited cancer syndrome involving mutations in the STK11 gene. PJS is a hereditary cancer syndrome characterized by gastrointestinal polyps and dark spots in the body and an increased cancer risk.
PMS2 is one of the genes known as a mismatch repair (MMR) genes. A pathogenic germline mutation in a PMS2 gene is a cause of Lynch syndrome. This mutation increases the risk for colorectal (colon) cancer, uterine (endometrial) cancer, and other cancers.
PTEN is a tumor suppressor gene. Pathogenic germline mutations in this gene are linked to Cowden Syndrome which increases your risk to breast cancer, uterine (endometrial) cancer, thyroid cancer, colorectal (colon and rectal) cancer, kidney cancer.
Previvor is someone who has not been diagnosed with cancer but is at a higher risk for cancer due to certain inherited genetic mutations in tumor suppressor genes (BRCA1, BRCA2, CHEK2, ATM, PALB2, PTEN, MLH1, MSH2, MSH6, etc.) or family history.

Being a previvor does not mean you will get cancer. But a previvor needs to be proactive and monitored appropriately to reduce the risk. Many hereditary cancers can be detected early and successfully treated, or even avoided all together with preventative action.

Previvor Infographic
Download the PDF

Q
QDPR (Quinoid Dihydropteridine Reductase) is a protein coding gene responsible for producing the enzyme Quinoid Dihydropteridine Reductase. Mutations in this gene can cause tetrahydrobiopterin deficiency, which affects levels of neurotransmitters and phenylalanine in the body. It is a rare disorder. A deficiency in Quinoid Dihydropteridine Reductase can also cause immune suppression in pancreatic cancer.
R
RAD51C, RAD51D genes are essential for DNA repair. Pathogenic germline mutations in these genes are linked to breast and gynecologic cancers (cervical, ovarian, uterine).
RB1 is a tumor suppressor gene. RB1 was the first tumor suppressor gene discovered. Pathogenic germline mutations in RB1 can cause Retinoblastoma, a childhood cancer of the retina.
RNA or ribonucleic acid, is a single-stranded nucleic acid that carries out the genetic instructions encoded in DNA. There are three types of RNA, Messenger RNA (mRNA), Ribosomal RNA (rRNA), Transfer RNA (tRNA). Each has a specific function. 
S
SDHA genes provide the instructions for making one part of succinate dehydrogenase (SDH) enzyme. This enzyme plays an important role helping convert food into a form of energy that cells can use. Pathogenic germline mutations in SDHA genes are linked to gastrointestinal and endocrine tumors and cancers.
Sharing Genetic information 
Somatic Mutations are genetic changes that happen occur after conception to the some of the cells in your body. Somatic mutations are normal and happen throughout your life. However, some of these mutations can affect your health. 

Somatic Mutations Graphic
Download the PDF

STK11 genes are a tumor suppressor genes that helps regulate cell growth and programmed cell death. Pathogenic germline mutations in the STK11 genes are the cause most cases of Peutz-Jeghers Syndrome
T
TP53 is a tumor suppressor gene. It is the most frequently mutated gene found in cancer. Pathogenic germline TP53 mutations are linked to breast, colorectal, and other cancers. It is also associated with Li-Fraumeni syndrome.
Tumor Suppressor Genes are genes that play important roles in regulating cell growth, cell proliferation, DNA repair, and programmed cell death (apoptosis.) If tumor suppressor genes don't function properly because of a mutation, cells can grow out of control and lead to cancer.
TSC1 & TSC2 are protein encoding genes that help regulate cell growth and division. Pathogenic germline mutations in these genes are associated with endocrine, gastrointestinal, renal/urinary tract, and nervous system/brain cancers.
U
Unknown Primary or Cancer of Unknown Primary (CUP) is when it is uncertain which organ or tissue a cancer originally came from. CUP can be associated with inherited cancer syndromes.
UGT1A1 is a gene that codes for an enzyme involved in normal liver metabolism. A normal variation (a polymorphism) of the UGT1A1 gene called UGT1A1*28 is associated with a hereditary syndrome called Gilbert's Syndrome which affects about 10% of the population. Gilbert syndrome is a benign condition that causes the liver to have problems removing bilirubin from the blood.

However, with a UGT1A1 polymorphism, you may metabolize specific chemotherapy drugs differently - namely
Irinotecan which is commonly used in colorectal cancer - causing more of the drug to build up in your system which causes more drug side effects. Before taking Irinotecan or other drugs in this class, you should be screened for UGT1A1 polymorphism.
V
Variant -- in genetics, is a permanent alteration in a gene's DNA makeup. See mutation.
Variant of Uncertain Significance (VUS) is a change in a gene, but it is unknown whether that variant is actually connected to any health condition, such as cancer. Determining whether or not a VUS is disease-causing can be a lengthy process that relies on multiple sources of collected evidence.
VHL gene, is a tumor suppressor gene. Germline pathogenic mutations in VHL genes are linked to specific types of cysts, tumors--both benign and malignant--in several organ systems. 
W
Werner's Syndrome affects children/young adults and predisposes them to cancer due to an inherited mutation in the WRN gene which may cause errors in DNA to accumulate. Werner's Syndrome is an autosomal recessive syndrome, which means a mutated gene from both parents must be passed on for a child to be affected.
WRN Genes are DNA repair genes. WRN genes provide instructions for producing the Werner protein, which is critical for repairing damaged DNA. 
WT1 or Wilms' Tumor Suppressor Gene 1 has an essential role in healthy urinary, kidney, and blood cell development. Pathogenic germline WT1 gene mutations are associated with a number of malignancies.
X
X chromosome is one of two sex chromosomes found in many organisms, including humans. It is found in both males and females. The other sex chromosome is Y. These two special chromosomes, along with many other genes in our genome, determine our sex. Generally, females have a pair of X chromosomes, while males have one X and one Y chromosome.
Xeroderma Pigmentosum are is an inherited syndrome predisposing individual to skin cancer, including melanoma, caused by mutation in the XP gene. XP genes are involved in repairing DNA. Xeroderma Pigmentosum is an autosomal recessive syndrome, which means a mutated gene from both parents must be passed on for a child to be affected.
Y
Y chromosome is one of two sex chromosomes found in many organisms, including humans. It is commonly associated with males, but the Y chromosome does not singularly determine a person's gender. The other sex chromosome is X

It is not uncommon to for people to be born with an extra copy of a chromosome, (YXX, YYX, XXX) or to lose a Y chromosome as they age.)
Z
Z-DNA is one of the many structures of DNA. It is the "lefthanded" form. That means its double helix winds to the left in a zigzag pattern instead of to the right like the more common B-DNA form. 
 

Click on any image below to
download the infographic PDF.

PDFs are free to use as long as the
art and text are not changed.

If you have been diagnosed with a pathogenic germline mutation, hereditary cancer, or need genetic counseling and testing because of family cancer history, visit these nonprofit organizations for assistance:


NSGC

Find a genetic counselor at the National Society of Genetic Counselors. 

Connect My Variant Logo
Connect My Variant

Prevention through connection. Connect with relatives to reduce inherited disease risk.


FORCE-Facing Our Risk of Cancer Empowered

Helping to improve the lives of individuals and families facing hereditary cancer. 



My Faulty Gene is a nonprofit organization which provides information and assistance to underrepresented, uninsured, and underinsured individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. 
Genetic testing saves lives!


Family Gene Share
Testimonials from individuals affected by hereditary cancers.


Jacqueline Rush Foundation

Helping to save lives by improving public and medical community awareness of Lynch Syndrome and to raise funds for Lynch Syndrome research.


AliveandKick'n
 

To improve the lives of individuals and families affected by Lynch syndrome and associated cancers through research, education and screening


No Stomach For Cancer (NSFC)
helps you recognize the signs and symptoms of stomach cancer, and understand the risk factors and preventative efforts you can make. Here you can find answers to questions about stomach cancer treatments, including gastrectomy, and ways to help improve the quality of your life without a stomach. NSFC is a network of caring.


26.2 Step Mini Marathon
 

is a one-of-a-kind event. It brings the fun of a mini marathon together with the goal to raise awareness of high-risk cancers; to empower people to make a health care plan; and to help them take those next action "steps".

 

BRCAStrong
offers education, information, support and advocacy for women who are uninsured or under insured, by women who care. Support comes in all forms , from premastectomy care packages, gynecological care packages, post-mastectomy garments, prosthetics and other treatment necessities; and is provided at zero cost to recipients.

 

 

Other Cancer-Related Resources

 
 

 

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Genetics, genetic mutations, and hereditary cancer are very complex subjects. The content provided here on Genetionary.org is provided for informational purposes only. It is not intended to diagnose or offer hereditary cancer treatment advice. Please consult with healthcare professionals with any questions or concerns you might have regarding your family cancer history, your own genetic inheritance, and/or hereditary cancer diagnosis. 

This page will be updated as new information becomes available.

 

Genetionary.org is a not-for-profit website created to raise more awareness about hereditary cancer and how it can be prevented by Mark A. Hicks. Read more about his advocacy here

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