Cancer syndrome to consider based on indication Flashcards
>5 cumulative basal cell carcinomas (BCCs) or BCC dx at age 30 or under
Nevoid basal cell carcinoma syndrome (NBCCS) (Gorlin Syndrome)
Brain tumor dx before 18
Mismatch repair cancer syndrome (CMMRD)
Brain tumor and two additional cases of any LS-associated cancer in the same person or in relatives
Lynch Syndrome (LS)
Brain tumor and one additional tumor in the same person or in two relatives, one dx 45 or under
Li Fraumeni syndrome (tumor should be a LFS-associated tumor)
Astrocytoma and melanoma in the same person or in two first-degree relatives
Melanoma-Astrocytoma Syndrome (MAS)
Subependymal giant cell astrocytoma and one additional criteria in the same person
Tuberous Sclerosis Complex
Medulloblastoma and >10 cumulative adenomatous colon polyps in the same person
FAP
Medulloblastoma (PNET) dx at age 18 or under
Nevoid basal cell carcinoma syndrome (NBCCS) (Gorlin Syndrome)
Breast cancer dx at 35 or younger
HBOC or Li-Fraumeni
Triple-negative breast cancer dx at 60 or younger
HBOC
2+ primary breast cancers in the same person
HBOC
AJ ancestry and breast cancer at any age
HBOC
3 or more cases of breast, ovarian, pancreatic, and/or aggressive prostate cancer in close relatives, inclinding the patient
HBOC
Breast cancer and one additional LFS tumor in the same person or in two relatives, one dx at age 45 or younger
Li-Fraumeni Syndrome
Breast cancer and 1+ PJ polyp in the same person
Peutz-Jeghers Syndrome (PJS)
Lobular breast cancer and diffuse gastric cancer in the same person
Hereditary diffuse gastric cancer (HDGC)
Lobular breast cancer in one relative and diffuse gastric cancer in another, one dx at age 50 or under
Hereditary diffuse gastric cancer (HDGC)
Breast cancer and 2 additional criteria (ex. macrocephaly, LDD tumor)
Cowden syndrome
Male breast cancer
HBOC
Colorectal cancer dx before 50 years of age
Lynch-Syndrome (LS), Mismatch repair cancer syndrome (CMMRD), MUTYH-associated polyposis (MAP)
Colorectal cancer dx 50+ with an first-degree relative with colorectal or endometrial cancer at any age
Lynch-Syndrome (LS), Mismatch repair cancer syndrome (CMMRD), MUTYH-associated polyposis (MAP)
Synchronous or metachronous colorectal or endometrial cancers in the same person
Lynch-Syndrome (LS), Mismatch repair cancer syndrome (CMMRD), MUTYH-associated polyposis (MAP)
Colorectal cancer showing mismatch repair deficiency on tumor screening
Lynch-Syndrome (LS) or Mismatch repair cancer syndrome (CMMRD)
Colorectal cancer and two additional cases of any LS-associated cancer in the same person or in close relatives
Lynch-Syndrome (LS), Mismatch repair cancer syndrome (CMMRD)
Colorectal cancer and two additional criteria (ex. macrocephaly, LDD tumor)
Cowden Syndrome (criteria = cowden syndrome criteria)
Colorectal cancer and one additional tumor in the same person or in two relatives, one dx at 45 or younger
Lynch Syndrome
Colorectal cancer with 10+ cumulative adenomatous colon polyps in the same person
FAP, AFAP, MUTYH-associated polyposis (MAP)
10+ cumulative adenomatous colon polyps in the same person
FAP, MAP, AFAP
3-5 cumulative histologically proven juvenile polyps in the same person
Juvenile-polyposis syndrome (JPS)
Any number of juvenile polyps with a positive family hx
Juvenile-polyposis syndrome (JPS)
Multiple juvenile polyps throughout the GI tract in the same person
Juvenile-polyposis syndrome (JPS)
One PJ polyp and mucocutaneous hyperpigmentation in the same person
Peutz-Jeghers Syndrome (PJS)
GI hamartoma or ganglioneuroma and two additional critera
Cowden Syndrome
Rectal hamartomatous polyps and one additional criterion
Tuberous Sclerosis Complex
Diffuse ganglioneuromatosis of the GI tract
MEN2
5+ serrated polyps proximal to the sigmoid colon, two of which are >1 cm in diameter, in the same person
Serrated Polyposis Syndrome (SPS)
20+ serrated polyps at any site in the large bowel in the same person
Serrated Polyposis Syndrome (SPS)
Any number of SPs proximal to the sigmoid colon and a positive family history
Serrated Polyposis Syndrome (SPS)
10+ cumulative polyps with >1 histology in the same person
Hereditary Mixed Polyposis Syndrome (HMPS)
Endometrial cancer diagnosed at younger than 50 years of age
Lynch Syndrome
Endometrial cancer dx at age 50+ with a first degree relative with colorectal or endometrial cancer at any age
Lynch Syndrome
Synchronous or metachronous colorectal or endometrial cancer
Lynch Syndrome
Endometrial cancer showing mismatch repair deficiency on tumor screening
Lynch Syndrome
Epithelial endometrial cancer and macrocephaly
Cowden Syndrome
2 or more cases of gastric cancer, one dx younger than 50 years of age
Hereditary diffuse gastric cancer (HDGC)
3 or more cases of gastric cancer in close relatives
Hereditary diffuse gastric cancer (HDGC)
Diffuse gastric cancer at younger than 40 years of age
Hereditary diffuse gastric cancer (HDGC)
Diffuse gastric cancer and lobular breast cancer in the same person
Hereditary diffuse gastric cancer (HDGC)
Diffuse gastric cancer in one relative and lobular breast cancer in another, one dx before 50 years of age
Hereditary diffuse gastric cancer (HDGC)
Gastric cancer and 2 additional cases of any LS-associated cancer in the same person or in close relatives
Lynch Syndrome
Leukemia dx before 18 years of age plus cafe-au-lait macules and/or other signs of NF1, or hypopigmented skin lesions, or consaguineous parents, or family history of LS-associated cancers, second primary cancer, sibling with a childhood cancer
Mismatch repair cancer syndrome (CMMRD)
Leukemia and one additional tumor in the same person or in 2 close relatives, one dx at 45 years or younger
Li-Fraumeni Syndrome (tumor should be a LFS criteria one)
3+ cases of melanoma and/or pancreatic cancer in close relatives
Hereditary Melanoma (HM)
3 or more primary melanomas in the same person
Hereditary Melanoma (HM)
Melanoma and pancreatic cancer in the same person
Hereditary Melanoma (HM)
Melanoma and astrocytoma in the same person or in 2 first-degree relatives
Hereditary Melanoma (HM) or Melanoma-Astrocytoma Syndrome (MAS)
Ovarian/Fallopian tube/Primary peritoneal cancer
HBOC, Lynch Syndrome
Pancreatic cancer dx at any age, if any of the following criteria are met: - 2+ cases of pancreas cancer in close relatives - 2+ cases of breast, ovarian, and/or aggressive prostate cancer in close relatives - AJ ancestry
HBOC, Familial Pancreatic Cancer
Pancreatic cancer and 1 or more PJ polyp in the same person
Peutz-Jeghers Syndrome (PJS)
Pancreatic cancer and two additional cases of any Lynch-associated cancer in the same person or in close relatives
Lynch Syndrome
3+ cases of pancreatic cancer and/or melanoma in close relatives
Hereditary Melanoma (OMIM 155600)
2+ cases of prostate cancer at age 55 or younger in close relatives
Familial Prostate Cancer (FP)
3 or more first degree relatives with prostate cancer
Familial Prostate Cancer (FP)
Aggressive (Gleason score >7) prostate cancer and 2+ cases of breast, ovarian, and/or pancreas cancer in close relatives
HBOC
Renal cell carcinoma (RCC) with clear cell histology, if any of the following criteria are met: diagnosed before age 50, bilateral or multifocal tumors, 1 close relative with clear cell RCC
von-Hippel Lindau (VHL), Birt-Hogg-Dube (BHD)
RCC with papillary type 1 histology
Hereditary papillary renal cancer (HPRC)
RCC with papillary type 2 histology
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)
RCC with collecting duct histology
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)
RCC with tubulopapillary histology
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)
RCC with crhomophobe, oncocytoma, or oncocytic hybrid
Birt-Hogg-Dube (BHD)
Urothelial carcinoma (or transitional cell carcinoma) and 2 additional cases of cancer in the same person or in relatives
Lynch Syndrome
RCC and macrocephaly
Cowden Syndrome
Angiomyolipomas of the kidney and one addtional criteria
Tuberous Sclerosis complex
Medullary Thyroid Cancer
MEN2
Nonmedullary thyroid cancer and one additional criteria
Carney
Nonmedullary thyroid cancer and 2 additional criteria
Cowden
Papillary thyroid cancer (cribriform-morular variant)
FAP
Colorectal adenocarcinoma
Lynch Syndrome associated tumor