Library of Genetic Testing Fact Sheets

This library contains fact sheets about inherited cancer risk and genetic testing. Genetic counselors at the Mass General Cancer Center created these fact sheets. The Language Access, Quality & Patient Experience (QPE) Team at Mass General Brigham translated them into multiple languages. Genetic counselors review and update the fact sheets on a bi-annual basis. The version date is listed in the footer of each document.

These fact sheets are not intended to be a substitute for professional medical advice, diagnosis, or treatment. We encourage patients to review this information with their own healthcare team.

Fact sheets are available in multiple languages (Arabic, Chinese, English, Haitian Creole, Portuguese, Russian, Spanish). Browse fact sheets by language, gene or syndrome.

Browse by Language

Arabic - العربيّة

View fact sheets (pdfs) in Arabic/العربيّة:

Chinese - 中文

View fact sheets (pdfs) in Chinese/中文:

English
Haitian Creole - Kreyòl Ayisyen

View fact sheets (pdfs) in Haitian Creole/Kreyòl Ayisyen:

Portuguese - Português

View fact sheets (pdfs) in Portuguese/Português:

Russian - Pусский

View fact sheets (pdfs) in Russian/Pусский:

Spanish - Español

View fact sheets (pdfs) in Spanish/Español:

Browse by Gene

APC

Information for families with a pathogenic variant in the APC gene. Mutations in the APC gene cause the following cancer predisposition conditions:

  • Attenuated Familial Adenomatous Polyposis (AFAP) syndrome
  • Familial Adenomatous Polyposis (FAP) syndrome

View AFAP factsheets (pdfs):

View FAP factsheets (pdfs):

ATM

Information for families with a pathogenic variant in the ATM gene.

View ATM factsheets (pdfs):

BRCA1

Information for families with a pathogenic variant in the BRCA1 gene. Mutations in the BRCA1 gene cause a cancer predisposition condition called Hereditary Breast and Ovarian Cancer syndrome (also known as HBOC syndrome).

View BRCA1 factsheets (pdfs):

BRCA2

Information for families with a pathogenic variant in the BRCA2 gene. Mutations in the BRCA2 gene cause a cancer predisposition condition called Hereditary Breast and Ovarian Cancer syndrome (also known as HBOC syndrome).

View BRCA2 factsheets (pdfs):

BRIP1

View BRIP1 factsheet (pdf):

CDH1

Information for families with a pathogenic variant in the CDH1 gene. Mutations in the CDH1 gene cause a cancer predisposition condition called Hereditary Diffuse Gastric Cancer (HDGC) syndrome.

View CDH1 factsheets (pdfs):

CHEK2

Information for families with a pathogenic variant in the CHEK2 gene.

View CHEK2 factsheets (pdfs):

MLH1

Information for families with a pathogenic variant in the MLH1 gene. Mutations in the MLH1 gene cause a hereditary cancer predisposition condition called Lynch syndrome (also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome).

View MLH1 factsheets (pdfs):

MSH2/EPCAM

Information for families with a pathogenic variant in the MSH2 gene. Mutations in the MSH2/EPCAM genes cause a hereditary cancer predisposition condition called Lynch syndrome (also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome).

View MSH2/EPCAM factsheets (pdfs):

MSH6

Information for families with a pathogenic variant in the MSH6 gene. Mutations in the MSH6 gene cause a hereditary cancer predisposition condition called Lynch syndrome (also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome).

View MSH6 factsheets (pdfs):

MUTYH

Information for families with a pathogenic variant in both copies of the MUTYH gene. Having mutations in both copies of the MUTYH gene (also known as MYH) causes a cancer predisposition condition called MUTYH-Associated Polyposis (MAP) syndrome.

View MUTYH factsheets (pdfs):

PALB2

Information for families with a pathogenic variant in the PALB2 gene.

View PALB2 factsheets (pdfs):

PMS2

Information for families with a pathogenic variant in the PMS2 gene. Mutations in the PMS2 gene cause a hereditary cancer predisposition condition called Lynch syndrome (also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome)..

View PMS2 factsheets (pdfs):

PTEN

Information for families with a pathogenic variant in the PTEN gene. Mutations in the PTEN gene cause a cancer predisposition condition called PTEN-hamartoma tumor syndrome (PHTS). Cowden syndrome is one of the PHTS syndromes.

View PTEN factsheets (pdfs):

RAD51C

View RAD51C factsheet (pdf):

RAD51D

View RAD51D factsheet (pdf):

TP53

Information for families with a pathogenic variant in the TP53 gene. Mutations in the TP53 gene are linked to a cancer predisposition condition called Li-Fraumeni syndrome (also known as LFS).

View TP53 factsheets (pdfs):

Browse by Syndrome

Attenuated Familial Adenomatous Polyposis (AFAP) syndrome

Attenuated Familial Adenomatous Polyposis Syndrome (AFAP syndrome): Information for families with a pathogenic variant in the APC gene.

View AFAP factsheets (pdfs):

Cowden syndrome

Information for families with a pathogenic variant in the PTEN gene. Mutations in the PTEN gene cause a cancer predisposition condition called PTEN-hamartoma tumor syndrome (PHTS). Cowden syndrome is one of the PHTS syndromes.

View PTEN factsheets (pdfs):

Familial Adenomatous Polyposis syndrome (FAP) syndrome

Familial Adenomatous Polyposis syndrome (FAP syndrome): Information for families with a pathogenic variant in the APC gene.

View FAP factsheets (pdfs):

Hereditary Breast and Ovarian Cancer (HBOC) syndrome

Mutations in the BRCA1 and BRCA2 genes cause a cancer predisposition condition called Hereditary Breast and Ovarian Cancer (HBOC) syndrome.

View BRCA1 factsheets (pdfs):

View BRCA2 factsheets (pdfs):

Hereditary Diffuse Gastric Cancer (HDGC) syndrome

Mutations in the CDH1 gene cause a cancer predisposition condition called Hereditary Diffuse Gastric Cancer (HDGC) syndrome.

View CDH1 factsheets (pdfs):

Li-Fraumeni syndrome

Mutations in the TP53 gene are linked to a cancer predisposition condition called Li-Fraumeni syndrome (LFS).

View TP53 factsheets (pdfs):

Lynch syndrome

Mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes cause a hereditary cancer predisposition condition called Lynch syndrome (also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome).

View MLH1 factsheets (pdfs):

View MSH2/EPCAM factsheets (pdfs):

View MSH6 factsheets (pdfs):

View PMS2 factsheets (pdfs):

MUTYH-Associated Polyposis (MAP) syndrome

Having mutations in both copies of the MUTYH gene (also known as MYH) causes a cancer predisposition condition called MUTYH-Associated Polyposis (MAP) syndrome.

View MUTYH factsheets (pdfs):